PubMed:17585057 JSON TXT

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PMID_GLOBAL

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":39,"end":54},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":138,"end":153},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":294,"end":309},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":329,"end":332},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":350,"end":365},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":400,"end":415},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":540,"end":555},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":828,"end":843},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":972,"end":987},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":1168,"end":1171},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":1552,"end":1567},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":1727,"end":1742},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008315"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0008315"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0008315"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0017169"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0008315"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0008315"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0008315"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0008315"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0008315"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0017169"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0008315"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0008315"}],"text":"Common variation in the BRCA1 gene and prostate cancer risk.\nRare inactivating mutations in the BRCA1 gene seem to play a limited role in prostate cancer. To our knowledge, however, no study has comprehensively assessed the role of other BRCA1 sequence variations (e.g., missense mutations) in prostate cancer. In a study of 817 men with and without prostate cancer from 323 familial and early-onset prostate cancer families, we used family-based association tests and conditional logistic regression to investigate the association between prostate cancer and single nucleotide polymorphisms (SNPs) tagging common haplotype variation in a 200-kb region surrounding (and including) the BRCA1 gene. We also used the Genotype-Identity-by-Descent Sharing Test to determine whether our most strongly associated SNP could account for prostate cancer linkage to chromosome 17q21 in a sample of 154 families from our previous genome-wide linkage study. The strongest evidence for prostate cancer association was for a glutamine-to-arginine substitution at codon 356 (Gln(356)Arg) in exon 11 of the BRCA1 gene. The minor (Arg) allele was preferentially transmitted to affected men (P = 0.005 for a dominant model), with an estimated odds ratio of 2.25 (95% confidence interval, 1.21-4.20). Notably, BRCA1 Gln(356)Arg is not in strong linkage disequilibrium with other BRCA1 coding SNPs or any known HapMap SNP on chromosome 17. In addition, Genotype-Identity-by-Descent Sharing Test results suggest that Gln(356)Arg accounts (in part) for our prior evidence of prostate cancer linkage to chromosome 17q21 (P = 0.022). Thus, we have identified a common, nonsynonymous substitution in the BRCA1 gene that is associated with and linked to prostate cancer."}

DisGeNET

PubmedHPO

DisGeNET5_variant_disease

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"17585057-8#76#87#geners1799950","span":{"begin":1495,"end":1506},"obj":"geners1799950"},{"id":"17585057-8#133#148#diseaseC0376358","span":{"begin":1552,"end":1567},"obj":"diseaseC0376358"},{"id":"17585057-8#133#148#diseaseC0600139","span":{"begin":1552,"end":1567},"obj":"diseaseC0600139"}],"relations":[{"id":"76#87#geners1799950133#148#diseaseC0376358","pred":"associated_with","subj":"17585057-8#76#87#geners1799950","obj":"17585057-8#133#148#diseaseC0376358"},{"id":"76#87#geners1799950133#148#diseaseC0600139","pred":"associated_with","subj":"17585057-8#76#87#geners1799950","obj":"17585057-8#133#148#diseaseC0600139"}],"text":"Common variation in the BRCA1 gene and prostate cancer risk.\nRare inactivating mutations in the BRCA1 gene seem to play a limited role in prostate cancer. To our knowledge, however, no study has comprehensively assessed the role of other BRCA1 sequence variations (e.g., missense mutations) in prostate cancer. In a study of 817 men with and without prostate cancer from 323 familial and early-onset prostate cancer families, we used family-based association tests and conditional logistic regression to investigate the association between prostate cancer and single nucleotide polymorphisms (SNPs) tagging common haplotype variation in a 200-kb region surrounding (and including) the BRCA1 gene. We also used the Genotype-Identity-by-Descent Sharing Test to determine whether our most strongly associated SNP could account for prostate cancer linkage to chromosome 17q21 in a sample of 154 families from our previous genome-wide linkage study. The strongest evidence for prostate cancer association was for a glutamine-to-arginine substitution at codon 356 (Gln(356)Arg) in exon 11 of the BRCA1 gene. The minor (Arg) allele was preferentially transmitted to affected men (P = 0.005 for a dominant model), with an estimated odds ratio of 2.25 (95% confidence interval, 1.21-4.20). Notably, BRCA1 Gln(356)Arg is not in strong linkage disequilibrium with other BRCA1 coding SNPs or any known HapMap SNP on chromosome 17. In addition, Genotype-Identity-by-Descent Sharing Test results suggest that Gln(356)Arg accounts (in part) for our prior evidence of prostate cancer linkage to chromosome 17q21 (P = 0.022). Thus, we have identified a common, nonsynonymous substitution in the BRCA1 gene that is associated with and linked to prostate cancer."}

DisGeNET5_gene_disease

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17585057-0#24#29#gene672","span":{"begin":1090,"end":1095},"obj":"gene672"},{"id":"17585057-0#39#54#diseaseC0376358","span":{"begin":1392,"end":1554},"obj":"diseaseC0376358"},{"id":"17585057-0#39#54#diseaseC0600139","span":{"begin":1392,"end":1554},"obj":"diseaseC0600139"}],"relations":[{"id":"24#29#gene67239#54#diseaseC0376358","pred":"associated_with","subj":"17585057-0#24#29#gene672","obj":"17585057-0#39#54#diseaseC0376358"},{"id":"24#29#gene67239#54#diseaseC0600139","pred":"associated_with","subj":"17585057-0#24#29#gene672","obj":"17585057-0#39#54#diseaseC0600139"}],"text":"Common variation in the BRCA1 gene and prostate cancer risk.\nRare inactivating mutations in the BRCA1 gene seem to play a limited role in prostate cancer. To our knowledge, however, no study has comprehensively assessed the role of other BRCA1 sequence variations (e.g., missense mutations) in prostate cancer. In a study of 817 men with and without prostate cancer from 323 familial and early-onset prostate cancer families, we used family-based association tests and conditional logistic regression to investigate the association between prostate cancer and single nucleotide polymorphisms (SNPs) tagging common haplotype variation in a 200-kb region surrounding (and including) the BRCA1 gene. We also used the Genotype-Identity-by-Descent Sharing Test to determine whether our most strongly associated SNP could account for prostate cancer linkage to chromosome 17q21 in a sample of 154 families from our previous genome-wide linkage study. The strongest evidence for prostate cancer association was for a glutamine-to-arginine substitution at codon 356 (Gln(356)Arg) in exon 11 of the BRCA1 gene. The minor (Arg) allele was preferentially transmitted to affected men (P = 0.005 for a dominant model), with an estimated odds ratio of 2.25 (95% confidence interval, 1.21-4.20). Notably, BRCA1 Gln(356)Arg is not in strong linkage disequilibrium with other BRCA1 coding SNPs or any known HapMap SNP on chromosome 17. In addition, Genotype-Identity-by-Descent Sharing Test results suggest that Gln(356)Arg accounts (in part) for our prior evidence of prostate cancer linkage to chromosome 17q21 (P = 0.022). Thus, we have identified a common, nonsynonymous substitution in the BRCA1 gene that is associated with and linked to prostate cancer."}