PubMed:9463314 JSONTXT

{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T4","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T5","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T6","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T8","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T9","span":{"begin":1003,"end":1076},"obj":"CompositeMention"},{"id":"T10","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":243,"end":246},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":520,"end":523},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":727,"end":730},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":959,"end":962},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1003,"end":1076},"obj":"CompositeMention"},{"id":"T12","span":{"begin":1248,"end":1251},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T4","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T5","span":{"begin":455,"end":478},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T9","span":{"begin":767,"end":790},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T11","span":{"begin":1003,"end":1076},"obj":"CompositeMention"},{"id":"T12","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T4","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T5","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T9","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T11","span":{"begin":1003,"end":1076},"obj":"CompositeMention"},{"id":"T12","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":164},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":165,"end":278},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":279,"end":501},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":502,"end":687},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":688,"end":791},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":792,"end":926},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":927,"end":1098},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1099,"end":1218},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1219,"end":1384},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":164},"obj":"Sentence"},{"id":"T2","span":{"begin":165,"end":278},"obj":"Sentence"},{"id":"T3","span":{"begin":279,"end":501},"obj":"Sentence"},{"id":"T4","span":{"begin":502,"end":687},"obj":"Sentence"},{"id":"T5","span":{"begin":688,"end":791},"obj":"Sentence"},{"id":"T6","span":{"begin":792,"end":926},"obj":"Sentence"},{"id":"T7","span":{"begin":927,"end":1098},"obj":"Sentence"},{"id":"T8","span":{"begin":1099,"end":1218},"obj":"Sentence"},{"id":"T9","span":{"begin":1219,"end":1384},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":3},"obj":"gene:472"},{"id":"T1","span":{"begin":32,"end":53},"obj":"disease:C0004135"},{"id":"T2","span":{"begin":0,"end":3},"obj":"gene:472"},{"id":"T3","span":{"begin":126,"end":134},"obj":"disease:C0023418"},{"id":"T4","span":{"begin":0,"end":3},"obj":"gene:472"},{"id":"T5","span":{"begin":150,"end":163},"obj":"disease:C0006142"},{"id":"T6","span":{"begin":0,"end":3},"obj":"gene:472"},{"id":"T7","span":{"begin":150,"end":163},"obj":"disease:C0678222"},{"id":"T8","span":{"begin":106,"end":109},"obj":"gene:472"},{"id":"T9","span":{"begin":32,"end":53},"obj":"disease:C0004135"},{"id":"T10","span":{"begin":106,"end":109},"obj":"gene:472"},{"id":"T11","span":{"begin":150,"end":163},"obj":"disease:C0678222"},{"id":"T12","span":{"begin":106,"end":109},"obj":"gene:472"},{"id":"T13","span":{"begin":150,"end":163},"obj":"disease:C0006142"},{"id":"T14","span":{"begin":106,"end":109},"obj":"gene:472"},{"id":"T15","span":{"begin":126,"end":134},"obj":"disease:C0023418"},{"id":"T16","span":{"begin":537,"end":540},"obj":"gene:472"},{"id":"T17","span":{"begin":611,"end":624},"obj":"disease:C0006142"},{"id":"T18","span":{"begin":537,"end":540},"obj":"gene:472"},{"id":"T19","span":{"begin":611,"end":624},"obj":"disease:C0678222"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"},{"id":"R9","pred":"associated_with","subj":"T16","obj":"T17"},{"id":"R10","pred":"associated_with","subj":"T18","obj":"T19"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"9463314-3#49#58#geners28904921","span":{"begin":551,"end":560},"obj":"geners28904921"},{"id":"9463314-3#109#122#diseaseC0006142","span":{"begin":611,"end":624},"obj":"diseaseC0006142"},{"id":"9463314-3#109#122#diseaseC0678222","span":{"begin":611,"end":624},"obj":"diseaseC0678222"}],"relations":[{"id":"49#58#geners28904921109#122#diseaseC0006142","pred":"associated_with","subj":"9463314-3#49#58#geners28904921","obj":"9463314-3#109#122#diseaseC0006142"},{"id":"49#58#geners28904921109#122#diseaseC0678222","pred":"associated_with","subj":"9463314-3#49#58#geners28904921","obj":"9463314-3#109#122#diseaseC0678222"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9463314-0#0#3#gene472","span":{"begin":0,"end":3},"obj":"gene472"},{"id":"9463314-0#106#109#gene472","span":{"begin":106,"end":109},"obj":"gene472"},{"id":"9463314-0#32#53#diseaseC0004135","span":{"begin":32,"end":53},"obj":"diseaseC0004135"},{"id":"9463314-0#126#134#diseaseC0023418","span":{"begin":126,"end":134},"obj":"diseaseC0023418"},{"id":"9463314-0#32#53#diseaseC0004135","span":{"begin":32,"end":53},"obj":"diseaseC0004135"},{"id":"9463314-0#126#134#diseaseC0023418","span":{"begin":126,"end":134},"obj":"diseaseC0023418"},{"id":"9463314-2#6#9#gene472","span":{"begin":285,"end":288},"obj":"gene472"},{"id":"9463314-2#176#199#diseaseC0262404","span":{"begin":455,"end":478},"obj":"diseaseC0262404"}],"relations":[{"id":"0#3#gene47232#53#diseaseC0004135","pred":"associated_with","subj":"9463314-0#0#3#gene472","obj":"9463314-0#32#53#diseaseC0004135"},{"id":"0#3#gene472126#134#diseaseC0023418","pred":"associated_with","subj":"9463314-0#0#3#gene472","obj":"9463314-0#126#134#diseaseC0023418"},{"id":"0#3#gene47232#53#diseaseC0004135","pred":"associated_with","subj":"9463314-0#0#3#gene472","obj":"9463314-0#32#53#diseaseC0004135"},{"id":"0#3#gene472126#134#diseaseC0023418","pred":"associated_with","subj":"9463314-0#0#3#gene472","obj":"9463314-0#126#134#diseaseC0023418"},{"id":"106#109#gene47232#53#diseaseC0004135","pred":"associated_with","subj":"9463314-0#106#109#gene472","obj":"9463314-0#32#53#diseaseC0004135"},{"id":"106#109#gene472126#134#diseaseC0023418","pred":"associated_with","subj":"9463314-0#106#109#gene472","obj":"9463314-0#126#134#diseaseC0023418"},{"id":"106#109#gene47232#53#diseaseC0004135","pred":"associated_with","subj":"9463314-0#106#109#gene472","obj":"9463314-0#32#53#diseaseC0004135"},{"id":"106#109#gene472126#134#diseaseC0023418","pred":"associated_with","subj":"9463314-0#106#109#gene472","obj":"9463314-0#126#134#diseaseC0023418"},{"id":"6#9#gene472176#199#diseaseC0262404","pred":"associated_with","subj":"9463314-2#6#9#gene472","obj":"9463314-2#176#199#diseaseC0262404"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":32,"end":38},"obj":"HP:0001251"},{"id":"TI2","span":{"begin":39,"end":53},"obj":"HP:0001009"},{"id":"AB1","span":{"begin":220,"end":226},"obj":"HP:0001251"},{"id":"AB2","span":{"begin":227,"end":241},"obj":"HP:0001009"},{"id":"TI3","span":{"begin":126,"end":134},"obj":"HP:0001909"},{"id":"TI4","span":{"begin":136,"end":144},"obj":"HP:0002665"},{"id":"AB3","span":{"begin":1003,"end":1011},"obj":"HP:0001909"},{"id":"AB4","span":{"begin":1013,"end":1021},"obj":"HP:0002665"},{"id":"AB5","span":{"begin":1060,"end":1076},"obj":"HP:0012189"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":150,"end":156},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":611,"end":617},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":32,"end":53},"obj":"ORDO:100"},{"id":"AB1","span":{"begin":220,"end":241},"obj":"ORDO:100"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":150,"end":156},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":611,"end":617},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier:D001260"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease:D007938"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease:D008223"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease:D001943"},{"id":"T5","span":{"begin":220,"end":241},"obj":"Modifier:D001260"},{"id":"T6","span":{"begin":243,"end":246},"obj":"Modifier:D001260"},{"id":"T7","span":{"begin":455,"end":478},"obj":"SpecificDisease:D013132"},{"id":"T8","span":{"begin":520,"end":523},"obj":"Modifier:D001260"},{"id":"T9","span":{"begin":611,"end":624},"obj":"SpecificDisease:D001943"},{"id":"T10","span":{"begin":727,"end":730},"obj":"Modifier:D001260"},{"id":"T11","span":{"begin":767,"end":790},"obj":"SpecificDisease:D013132"},{"id":"T12","span":{"begin":959,"end":962},"obj":"Modifier:D001260"},{"id":"T13","span":{"begin":1003,"end":1011},"obj":"SpecificDisease:D007938"},{"id":"T14","span":{"begin":1013,"end":1021},"obj":"SpecificDisease:D008223"},{"id":"T15","span":{"begin":1060,"end":1076},"obj":"SpecificDisease:D006689"},{"id":"T16","span":{"begin":1248,"end":1251},"obj":"Modifier:D001260"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Test","denotations":[{"id":"T124","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T125","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T126","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T127","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T128","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T129","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T130","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T131","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T132","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T133","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T134","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T135","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T136","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T137","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T138","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T139","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"attributes":[{"id":"A124","pred":"database_id","subj":"T124","obj":"D001260"},{"id":"A125","pred":"database_id","subj":"T125","obj":"D007938"},{"id":"A126","pred":"database_id","subj":"T126","obj":"D008223"},{"id":"A127","pred":"database_id","subj":"T127","obj":"D001943"},{"id":"A128","pred":"database_id","subj":"T128","obj":"D001260"},{"id":"A129","pred":"database_id","subj":"T129","obj":"D001260"},{"id":"A130","pred":"database_id","subj":"T130","obj":"D013132"},{"id":"A131","pred":"database_id","subj":"T131","obj":"D001260"},{"id":"A132","pred":"database_id","subj":"T132","obj":"D001943"},{"id":"A133","pred":"database_id","subj":"T133","obj":"D001260"},{"id":"A134","pred":"database_id","subj":"T134","obj":"D013132"},{"id":"A135","pred":"database_id","subj":"T135","obj":"D001260"},{"id":"A136","pred":"database_id","subj":"T136","obj":"D007938"},{"id":"A137","pred":"database_id","subj":"T137","obj":"D008223"},{"id":"A138","pred":"database_id","subj":"T138","obj":"D006689"},{"id":"A139","pred":"database_id","subj":"T139","obj":"D001260"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":136,"end":144},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":247},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":455,"end":478},"obj":"Modifier"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":767,"end":790},"obj":"Modifier"},{"id":"T9","span":{"begin":1003,"end":1011},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":1013,"end":1021},"obj":"DiseaseClass"},{"id":"T11","span":{"begin":1023,"end":1055},"obj":"CompositeMention"},{"id":"T12","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":247},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":455,"end":465},"obj":"Modifier"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":715,"end":726},"obj":"Modifier"},{"id":"T9","span":{"begin":767,"end":777},"obj":"Modifier"},{"id":"T10","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1023,"end":1055},"obj":"CompositeMention"},{"id":"T13","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T4","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T5","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T6","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T8","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T9","span":{"begin":1003,"end":1076},"obj":"CompositeMention"},{"id":"T10","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T6","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T7","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T9","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T11","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T13","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1023,"end":1055},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T17","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":243,"end":246},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T8","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T10","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T11","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1023,"end":1055},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":455,"end":478},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":611,"end":624},"obj":"Modifier"},{"id":"T6","span":{"begin":767,"end":790},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":1003,"end":1076},"obj":"CompositeMention"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":136,"end":144},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":247},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":455,"end":465},"obj":"Modifier"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":767,"end":777},"obj":"Modifier"},{"id":"T9","span":{"begin":1003,"end":1011},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":1013,"end":1021},"obj":"DiseaseClass"},{"id":"T11","span":{"begin":1023,"end":1034},"obj":"Modifier"},{"id":"T12","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T6","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T7","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T8","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T10","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T11","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1023,"end":1055},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T124","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T125","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T126","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T127","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T128","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T129","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T130","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T131","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T132","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T133","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T134","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T135","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T136","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T137","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T138","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T139","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"attributes":[{"id":"A124","pred":"database_id","subj":"T124","obj":"D001260"},{"id":"A125","pred":"database_id","subj":"T125","obj":"D007938"},{"id":"A126","pred":"database_id","subj":"T126","obj":"D008223"},{"id":"A127","pred":"database_id","subj":"T127","obj":"D001943"},{"id":"A128","pred":"database_id","subj":"T128","obj":"D001260"},{"id":"A129","pred":"database_id","subj":"T129","obj":"D001260"},{"id":"A130","pred":"database_id","subj":"T130","obj":"D013132"},{"id":"A131","pred":"database_id","subj":"T131","obj":"D001260"},{"id":"A132","pred":"database_id","subj":"T132","obj":"D001943"},{"id":"A133","pred":"database_id","subj":"T133","obj":"D001260"},{"id":"A134","pred":"database_id","subj":"T134","obj":"D013132"},{"id":"A135","pred":"database_id","subj":"T135","obj":"D001260"},{"id":"A136","pred":"database_id","subj":"T136","obj":"D007938"},{"id":"A137","pred":"database_id","subj":"T137","obj":"D008223"},{"id":"A138","pred":"database_id","subj":"T138","obj":"D006689"},{"id":"A139","pred":"database_id","subj":"T139","obj":"D001260"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T6","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T7","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T9","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T11","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T13","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1023,"end":1055},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T17","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":243,"end":246},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":520,"end":523},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":727,"end":730},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":959,"end":962},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":1248,"end":1251},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":247},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":611,"end":624},"obj":"Modifier"},{"id":"T5","span":{"begin":1003,"end":1076},"obj":"CompositeMention"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1023,"end":1076},"obj":"CompositeMention"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"123456","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Modifier"},{"id":"T2","span":{"begin":126,"end":134},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":136,"end":144},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":150,"end":163},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":220,"end":241},"obj":"Modifier"},{"id":"T6","span":{"begin":243,"end":246},"obj":"Modifier"},{"id":"T7","span":{"begin":520,"end":523},"obj":"Modifier"},{"id":"T8","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":727,"end":730},"obj":"Modifier"},{"id":"T10","span":{"begin":959,"end":962},"obj":"Modifier"},{"id":"T11","span":{"begin":1003,"end":1011},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1013,"end":1021},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1060,"end":1076},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1248,"end":1251},"obj":"Modifier"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}

{"project":"12345","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":126,"end":163},"obj":"CompositeMention"},{"id":"T3","span":{"begin":220,"end":241},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":243,"end":246},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":455,"end":478},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":520,"end":523},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":611,"end":624},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":727,"end":730},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":767,"end":790},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":959,"end":962},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1003,"end":1076},"obj":"CompositeMention"},{"id":"T12","span":{"begin":1248,"end":1251},"obj":"SpecificDisease"}],"text":"ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.\nWe report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T families, an ATM mutation (7271T--\u003eG) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 0025), although there is a less severe A-T phenotype in terms of the degree of cerebellar degeneration. This mutation (7271T--\u003eG) also allows expression of full-length ATM protein at a level comparable with that in unaffected individuals. In addition, we have studied 18 A-T patients, in 15 families, who developed leukemia, lymphoma, preleukemic T-cell proliferation, or Hodgkin lymphoma, mostly in childhood. A wide variety of ATM mutation types, including missense mutations and in-frame deletions, were seen in these patients. We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein."}