Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer

I. Agalliu, E. Karlins, E. M. Kwon, L. M. Iwasaki, A. Diamond, E. A. Ostrander, J. L. Stanford

Research output: Contribution to journalArticlepeer-review

84 Scopus citations


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 ≤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.

Original languageEnglish (US)
Pages (from-to)826-831
Number of pages6
JournalBritish Journal of Cancer
Issue number6
StatePublished - Sep 11 2007
Externally publishedYes


  • BRCA2 gene
  • Early-onset disease
  • Prostate cancer
  • Protein-truncating BRCA2 mutations

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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