PubMed:8554067 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":73},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":74,"end":244},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":245,"end":406},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":407,"end":465},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":466,"end":632},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":633,"end":678},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":679,"end":891},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":892,"end":979},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":980,"end":1094},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1095,"end":1251},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":73},"obj":"Sentence"},{"id":"T2","span":{"begin":74,"end":244},"obj":"Sentence"},{"id":"T3","span":{"begin":245,"end":406},"obj":"Sentence"},{"id":"T4","span":{"begin":407,"end":465},"obj":"Sentence"},{"id":"T5","span":{"begin":466,"end":632},"obj":"Sentence"},{"id":"T6","span":{"begin":633,"end":678},"obj":"Sentence"},{"id":"T7","span":{"begin":679,"end":891},"obj":"Sentence"},{"id":"T8","span":{"begin":892,"end":979},"obj":"Sentence"},{"id":"T9","span":{"begin":980,"end":1094},"obj":"Sentence"},{"id":"T10","span":{"begin":1095,"end":1251},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":245,"end":250},"obj":"gene:672"},{"id":"T1","span":{"begin":291,"end":305},"obj":"disease:C0029925"},{"id":"T2","span":{"begin":245,"end":250},"obj":"gene:672"},{"id":"T3","span":{"begin":291,"end":305},"obj":"disease:C1140680"},{"id":"T4","span":{"begin":245,"end":250},"obj":"gene:672"},{"id":"T5","span":{"begin":384,"end":405},"obj":"disease:C0242787"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8554067-2#0#5#gene672","span":{"begin":245,"end":250},"obj":"gene672"},{"id":"8554067-2#139#160#diseaseC0242787","span":{"begin":384,"end":405},"obj":"diseaseC0242787"}],"relations":[{"id":"0#5#gene672139#160#diseaseC0242787","pred":"associated_with","subj":"8554067-2#0#5#gene672","obj":"8554067-2#139#160#diseaseC0242787"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"DisGeNet-2017-sample","denotations":[{"id":"T1945","span":{"begin":20,"end":25},"obj":"gene:672"},{"id":"T1946","span":{"begin":49,"end":63},"obj":"disease:C0029925"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T1945","obj":"T1946"},{"id":"R2","pred":"associated_with","subj":"T1945","obj":"T1946"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":42,"end":48},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":94,"end":100},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":280,"end":286},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":392,"end":398},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":1153,"end":1159},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":387,"end":398},"obj":"http://purl.obolibrary.org/obo/UBERON_0016410"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":42,"end":48},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":94,"end":100},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":280,"end":286},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":392,"end":398},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":1153,"end":1159},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":387,"end":398},"obj":"http://purl.obolibrary.org/obo/UBERON_0016410"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":42,"end":63},"obj":"Modifier:D061325"},{"id":"T2","span":{"begin":94,"end":115},"obj":"Modifier:D061325"},{"id":"T3","span":{"begin":280,"end":305},"obj":"Modifier:D061325"},{"id":"T4","span":{"begin":387,"end":405},"obj":"SpecificDisease:D018567"},{"id":"T5","span":{"begin":1153,"end":1176},"obj":"SpecificDisease:D061325"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T299","span":{"begin":42,"end":63},"obj":"Modifier"},{"id":"T300","span":{"begin":94,"end":115},"obj":"Modifier"},{"id":"T301","span":{"begin":280,"end":305},"obj":"Modifier"},{"id":"T302","span":{"begin":387,"end":405},"obj":"SpecificDisease"},{"id":"T303","span":{"begin":1153,"end":1176},"obj":"SpecificDisease"}],"attributes":[{"id":"A299","pred":"database_id","subj":"T299","obj":"D061325"},{"id":"A300","pred":"database_id","subj":"T300","obj":"D061325"},{"id":"A301","pred":"database_id","subj":"T301","obj":"D061325"},{"id":"A302","pred":"database_id","subj":"T302","obj":"D018567"},{"id":"A303","pred":"database_id","subj":"T303","obj":"D061325"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T299","span":{"begin":42,"end":63},"obj":"Modifier"},{"id":"T300","span":{"begin":94,"end":115},"obj":"Modifier"},{"id":"T301","span":{"begin":280,"end":305},"obj":"Modifier"},{"id":"T302","span":{"begin":387,"end":405},"obj":"SpecificDisease"},{"id":"T303","span":{"begin":1153,"end":1176},"obj":"SpecificDisease"}],"attributes":[{"id":"A299","pred":"database_id","subj":"T299","obj":"D061325"},{"id":"A300","pred":"database_id","subj":"T300","obj":"D061325"},{"id":"A301","pred":"database_id","subj":"T301","obj":"D061325"},{"id":"A302","pred":"database_id","subj":"T302","obj":"D018567"},{"id":"A303","pred":"database_id","subj":"T303","obj":"D061325"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":42,"end":63},"obj":"CompositeMention"},{"id":"T2","span":{"begin":94,"end":115},"obj":"CompositeMention"},{"id":"T3","span":{"begin":280,"end":286},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":291,"end":305},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":392,"end":405},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1153,"end":1176},"obj":"CompositeMention"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":42,"end":63},"obj":"CompositeMention"},{"id":"T2","span":{"begin":94,"end":115},"obj":"CompositeMention"},{"id":"T3","span":{"begin":280,"end":305},"obj":"CompositeMention"},{"id":"T4","span":{"begin":392,"end":405},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1153,"end":1176},"obj":"CompositeMention"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":42,"end":63},"obj":"CompositeMention"},{"id":"T2","span":{"begin":94,"end":115},"obj":"CompositeMention"},{"id":"T3","span":{"begin":280,"end":305},"obj":"CompositeMention"},{"id":"T4","span":{"begin":387,"end":405},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1153,"end":1176},"obj":"DiseaseClass"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":42,"end":63},"obj":"CompositeMention"},{"id":"T2","span":{"begin":94,"end":115},"obj":"CompositeMention"},{"id":"T3","span":{"begin":280,"end":286},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":291,"end":305},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":387,"end":405},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1153,"end":1176},"obj":"CompositeMention"}],"text":"A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.\nWe have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family with a case of male breast cancer. Nine of these mutations have not been reported previously. The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2%-88% of the expected normal length. Two mutations altered the RING finger domain. Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families, and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families. A total of eight mutations were associated with a reduced quantity of BRCA1 transcript. We were unable to detect BRCA1 mutations in 4 of the 20 families, but only 1 of these was clearly linked to BRCA1. It is expected that the majority of clear examples of the breast-ovarian syndrome will be associated with germ-line mutations in the coding region of BRCA1."}