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- Title
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.
- Authors
Agalliu, I.; Karlins, E.; Kwon, E. M.; Iwasaki, L. M.; Diamond, A.; Ostrander, E. A.; Stanford, J. L.
- Abstract
Studies of families who segregate BRCA2 mutations have found that men who carry disease-associated mutations have an increased risk of prostate cancer, particularly early-onset disease. A study of sporadic prostate cancer in the UK reported a prevalence of 2.3% for protein-truncating BRCA2 mutations among patients diagnosed at ages < or =55 years, highlighting the potential importance of this gene in prostate cancer susceptibility. To examine the role of protein-truncating BRCA2 mutations in relation to early-onset prostate cancer in a US population, 290 population-based patients from King County, Washington, diagnosed at ages <55 years were screened for germline BRCA2 mutations. The coding regions, intron-exon boundaries, and potential regulatory elements of the BRCA2 gene were sequenced. Two distinct protein-truncating BRCA2 mutations were identified in exon 11 in two patients. Both cases were Caucasian, yielding a mutation prevalence of 0.78% (95% confidence interval (95%CI) 0.09-2.81%) and a relative risk (RR) of 7.8 (95%CI 1.8-9.4) for early-onset prostate cancer in white men carrying a protein-truncating BRCA2 mutation. Results suggest that protein-truncating BRCA2 mutations confer an elevated RR of early-onset prostate cancer. However, we estimate that <1% of early-onset prostate cancers in the general US Caucasian population can be attributed to these rare disease-associated BRCA2 mutations.
- Subjects
UNITED States; WASHINGTON (State); PROSTATE cancer; GERM cells; RELATIVE medical risk; WHITE men; MALE reproductive organs; STATISTICS on Black people; AGE factors in disease; COMPARATIVE studies; DISEASE susceptibility; GENES; GENETIC polymorphisms; RESEARCH methodology; MEDICAL cooperation; GENETIC mutation; PROSTATE tumors; PUBLIC health surveillance; RESEARCH; RESEARCH funding; RISK assessment; WHITE people; EVALUATION research; BRCA genes; CASE-control method; SEQUENCE analysis; ODDS ratio
- Publication
British Journal of Cancer, 2007, Vol 97, Issue 6, p826
- ISSN
0007-0920
- Publication type
journal article
- DOI
10.1038/sj.bjc.6603929