Two Percent of Men with Early-Onset Prostate Cancer Harbor Germline Mutations in the BRCA2 Gene
作者： Stephen M Edwards , Zsofia Kote-Jarai , Julia Meitz , Rifat Hamoudi , Questa Hope
DOI: 10.1086/345310
关键词:
摘要: Studies of families with breast cancer have indicated that male carriers BRCA2 mutations are at increased risk prostate cancer, particularly an early age. To evaluate the contribution to early-onset we screened complete coding sequence for germline mutations, in 263 men diagnoses who were ≤55 years Protein-truncating found six (2.3%; 95% confidence interval 0.8%–5.0%), and all these clustered outside ovarian-cancer cluster region. The relative developing by age 56 from a deleterious mutation was 23-fold. Four patients did not family history or ovarian cancer. Twenty-two variants uncertain significance also identified. These results confirm is high-risk prostate-cancer–susceptibility gene potential implications management both their relatives.
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