The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer

and the Hereditary Breast Cancer Clinical Study Group

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

The objective of this study was to estimate the lifetime risk of breast cancer in women with a BRCA1 or BRCA2 mutation with and without at least 1 first-degree relative with breast cancer. A total of 2835 women with a BRCA1 or BRCA2 mutation were followed. Age- and gene-specific breast cancer rates were calculated. The relative risks of breast cancer for subjects with a family history of breast cancer, compared to no family history were calculated. The mean age at baseline was 41.1 years, and they were followed for a mean of 6.0 years. The estimated penetrance of breast cancer to age 80 years was 60.8% for BRCA1 and 63.1% for BRCA2. For all BRCA carriers, the penetrance of breast cancer to age 80 for those with no first-degree relative with breast cancer was 60.4% and 63.3% for those with at least 1 first-degree relative with breast cancer. The risk of breast cancer for BRCA carriers with no first-degree relative with breast cancer is substantial, and as a result, clinical management for these women should be the same as those for women with an affected relative.

Original languageEnglish (US)
Pages (from-to)1063-1068
Number of pages6
JournalClinical Genetics
Volume93
Issue number5
DOIs
StatePublished - May 2018

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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