PubMed:15116316 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/15116316","sourcedb":"PubMed","sourceid":"15116316","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15116316","text":"Offspring gender ratio and the rate of recurrent spontaneous miscarriages in jewish women at high risk for breast/ovarian cancer.\nBRCA1/BRCA2 germline mutations are associated with an increased breast/ovarian cancer risk. Offspring gender ratios may be skewed against male births in BRCA1 mutation carriers. In addition, the lack of viable homozygous BRCA1/BRCA2-mutation carriers implies that recurrent miscarriages may be associated with homozygous fetuses. Jewish Israeli high-risk women who were tested for being carriers of the predominant BRCA1/BRCA2 mutations in Jewish high-risk families were analyzed for the sex of offspring and the rate of spontaneous miscarriages. Overall, 817 women participated: 393 BRCA1/BRCA2-mutation carriers (229 with breast/ovarian cancer) and 424 high-risk noncarriers (208 with breast/ovarian cancer). No differences between the male-to-female offspring ratios of all study groups were noted. Among mutation carriers, the offspring male-to-female ratio was 0.97 (444 : 460), and among mutation carriers with cancer it was 0.92 (262 : 284). Similarly, no offspring gender skewing was noted among high-risk noncarriers, regardless of health status. The rates of three or more spontaneous miscarriages among participants with at least one live birth were 4.37% (15/343) among mutation carriers and 3% (12/401) among high-risk women (P = not significant). In conclusion, the offspring gender ratio is similar in high-risk Jewish families and in the general population. The issue of the rate of recurrent miscarriages in high-risk Jewish women is unresolved.","tracks":[{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":107,"end":113},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":194,"end":200},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":754,"end":760},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":817,"end":823},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T3","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T4","pred":"source","obj":"performance-test"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":720,"end":725},"obj":"gene:675"},{"id":"T1","span":{"begin":761,"end":775},"obj":"disease:C0029925"},{"id":"T2","span":{"begin":720,"end":725},"obj":"gene:675"},{"id":"T3","span":{"begin":761,"end":775},"obj":"disease:C1140680"},{"id":"T4","span":{"begin":720,"end":725},"obj":"gene:675"},{"id":"T5","span":{"begin":824,"end":838},"obj":"disease:C0029925"},{"id":"T6","span":{"begin":720,"end":725},"obj":"gene:675"},{"id":"T7","span":{"begin":824,"end":838},"obj":"disease:C1140680"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":129},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":130,"end":221},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":222,"end":307},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":308,"end":459},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":460,"end":676},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":677,"end":709},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":710,"end":840},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":841,"end":931},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":932,"end":1007},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1008,"end":1072},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1073,"end":1078},"obj":"Sentence"},{"id":"TextSentencer_T12","span":{"begin":1079,"end":1185},"obj":"Sentence"},{"id":"TextSentencer_T13","span":{"begin":1186,"end":1390},"obj":"Sentence"},{"id":"TextSentencer_T14","span":{"begin":1391,"end":1503},"obj":"Sentence"},{"id":"TextSentencer_T15","span":{"begin":1504,"end":1592},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":129},"obj":"Sentence"},{"id":"T2","span":{"begin":130,"end":221},"obj":"Sentence"},{"id":"T3","span":{"begin":222,"end":307},"obj":"Sentence"},{"id":"T4","span":{"begin":308,"end":459},"obj":"Sentence"},{"id":"T5","span":{"begin":460,"end":676},"obj":"Sentence"},{"id":"T6","span":{"begin":677,"end":709},"obj":"Sentence"},{"id":"T7","span":{"begin":710,"end":840},"obj":"Sentence"},{"id":"T8","span":{"begin":841,"end":931},"obj":"Sentence"},{"id":"T9","span":{"begin":932,"end":1007},"obj":"Sentence"},{"id":"T10","span":{"begin":1008,"end":1072},"obj":"Sentence"},{"id":"T11","span":{"begin":1073,"end":1078},"obj":"Sentence"},{"id":"T12","span":{"begin":1079,"end":1185},"obj":"Sentence"},{"id":"T13","span":{"begin":1186,"end":1390},"obj":"Sentence"},{"id":"T14","span":{"begin":1391,"end":1503},"obj":"Sentence"},{"id":"T15","span":{"begin":1504,"end":1592},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T10","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T11","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T12","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T13","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T14","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T15","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"},{"subj":"T10","pred":"source","obj":"sentences"},{"subj":"T11","pred":"source","obj":"sentences"},{"subj":"T12","pred":"source","obj":"sentences"},{"subj":"T13","pred":"source","obj":"sentences"},{"subj":"T14","pred":"source","obj":"sentences"},{"subj":"T15","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":107,"end":113},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":194,"end":200},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":754,"end":760},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":817,"end":823},"obj":"http://purl.obolibrary.org/obo/UBERON_0000310"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T3","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T4","pred":"source","obj":"UBERON-AE"}]},{"project":"DisGeNet-2017-sample","denotations":[{"id":"T1503","span":{"begin":714,"end":719},"obj":"gene:672"},{"id":"T1504","span":{"begin":824,"end":838},"obj":"disease:C0029925"},{"id":"T1505","span":{"begin":720,"end":725},"obj":"gene:675"},{"id":"T1506","span":{"begin":761,"end":775},"obj":"disease:C0029925"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T1503","obj":"T1504"},{"id":"R2","pred":"associated_with","subj":"T1503","obj":"T1504"},{"id":"R3","pred":"associated_with","subj":"T1505","obj":"T1506"},{"id":"R4","pred":"associated_with","subj":"T1505","obj":"T1506"},{"id":"R5","pred":"associated_with","subj":"T1505","obj":"T1504"},{"id":"R6","pred":"associated_with","subj":"T1505","obj":"T1504"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T1503","pred":"source","obj":"DisGeNet-2017-sample"},{"subj":"T1504","pred":"source","obj":"DisGeNet-2017-sample"},{"subj":"T1505","pred":"source","obj":"DisGeNet-2017-sample"},{"subj":"T1506","pred":"source","obj":"DisGeNet-2017-sample"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15116316-5#37#42#gene672","span":{"begin":714,"end":719},"obj":"gene672"},{"id":"15116316-5#43#48#gene675","span":{"begin":720,"end":725},"obj":"gene675"},{"id":"15116316-5#147#161#diseaseC0029925","span":{"begin":824,"end":838},"obj":"diseaseC0029925"},{"id":"15116316-5#147#161#diseaseC1140680","span":{"begin":824,"end":838},"obj":"diseaseC1140680"},{"id":"15116316-5#84#98#diseaseC0029925","span":{"begin":761,"end":775},"obj":"diseaseC0029925"},{"id":"15116316-5#84#98#diseaseC1140680","span":{"begin":761,"end":775},"obj":"diseaseC1140680"},{"id":"15116316-5#147#161#diseaseC0029925","span":{"begin":824,"end":838},"obj":"diseaseC0029925"},{"id":"15116316-5#147#161#diseaseC1140680","span":{"begin":824,"end":838},"obj":"diseaseC1140680"}],"relations":[{"id":"37#42#gene672147#161#diseaseC0029925","pred":"associated_with","subj":"15116316-5#37#42#gene672","obj":"15116316-5#147#161#diseaseC0029925"},{"id":"37#42#gene672147#161#diseaseC1140680","pred":"associated_with","subj":"15116316-5#37#42#gene672","obj":"15116316-5#147#161#diseaseC1140680"},{"id":"37#42#gene67284#98#diseaseC0029925","pred":"associated_with","subj":"15116316-5#37#42#gene672","obj":"15116316-5#84#98#diseaseC0029925"},{"id":"37#42#gene67284#98#diseaseC1140680","pred":"associated_with","subj":"15116316-5#37#42#gene672","obj":"15116316-5#84#98#diseaseC1140680"},{"id":"37#42#gene672147#161#diseaseC0029925","pred":"associated_with","subj":"15116316-5#37#42#gene672","obj":"15116316-5#147#161#diseaseC0029925"},{"id":"37#42#gene672147#161#diseaseC1140680","pred":"associated_with","subj":"15116316-5#37#42#gene672","obj":"15116316-5#147#161#diseaseC1140680"},{"id":"43#48#gene675147#161#diseaseC0029925","pred":"associated_with","subj":"15116316-5#43#48#gene675","obj":"15116316-5#147#161#diseaseC0029925"},{"id":"43#48#gene675147#161#diseaseC1140680","pred":"associated_with","subj":"15116316-5#43#48#gene675","obj":"15116316-5#147#161#diseaseC1140680"},{"id":"43#48#gene67584#98#diseaseC0029925","pred":"associated_with","subj":"15116316-5#43#48#gene675","obj":"15116316-5#84#98#diseaseC0029925"},{"id":"43#48#gene67584#98#diseaseC1140680","pred":"associated_with","subj":"15116316-5#43#48#gene675","obj":"15116316-5#84#98#diseaseC1140680"},{"id":"43#48#gene675147#161#diseaseC0029925","pred":"associated_with","subj":"15116316-5#43#48#gene675","obj":"15116316-5#147#161#diseaseC0029925"},{"id":"43#48#gene675147#161#diseaseC1140680","pred":"associated_with","subj":"15116316-5#43#48#gene675","obj":"15116316-5#147#161#diseaseC1140680"}],"attributes":[{"subj":"15116316-5#37#42#gene672","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#43#48#gene675","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#147#161#diseaseC0029925","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#147#161#diseaseC1140680","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#84#98#diseaseC0029925","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#84#98#diseaseC1140680","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#147#161#diseaseC0029925","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15116316-5#147#161#diseaseC1140680","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"performance-test","color":"#ec93d9","default":true},{"id":"DisGeNET","color":"#93ece5"},{"id":"sentences","color":"#eccb93"},{"id":"UBERON-AE","color":"#b193ec"},{"id":"DisGeNet-2017-sample","color":"#93ec97"},{"id":"DisGeNET5_gene_disease","color":"#ec93a9"}]}]}}