Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations

Kelly Metcalfe, Jan Lubinski, Henry T. Lynch, Parviz Ghadirian, William D. Foulkes, Charmaine Kim-Sing, Susan Neuhausen, Nadine Tung, Barry Rosen, Jacek Gronwald, Peter Ainsworth, Kevin Sweet, Andrea Eisen, Ping Sun, Steven A. Narod

Research output: Contribution to journalArticlepeer-review

85 Scopus citations


Women who carry a deleterious mutation in BRCA1 or BRCA2 have high lifetime risks of breast and ovarian cancers. However, the influence of a family history of these cancers on these risks in women with BRCA mutations is unclear. We calculated cancer incidence rates for a multinational cohort comprising 3011 women with BRCA1 or BRCA2 mutations who were followed up for a mean of 3.9 years, during which time 243 incident breast or ovarian cancers were recorded. The 10-year cumulative risks of breast cancer were 18.1% (95% confidence interval [CI] = 13.3% to 22.8%) for women with a BRCA1 mutation and 15.2% (95% CI = 9.1% to 21.2%) for women with a BRCA2 mutation. Among women with a BRCA1 mutation, the risk of breast cancer increased by 1.2-fold for each first-degree relative with breast cancer before age 50 years (hazard ratio [HR] = 1.21; 95% confidence interval [CI] = 0.94 to 1.57) and the risk of ovarian cancer increased by 1.6 fold for each first- or second-degree relative with ovarian cancer (HR = 1.61; 95% CI = 1.21 to 2.14). Among women with a BRCA2 mutation, the risk of breast cancer increased by 1.7-fold for each first-degree relative younger than 50 years with breast cancer (HR = 1.67; 95% CI = 1.04 to 2.07).

Original languageEnglish (US)
Pages (from-to)1874-1878
Number of pages5
JournalJournal of the National Cancer Institute
Issue number24
StatePublished - Dec 15 2010

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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