Skin cancer risk in BRCA1/2 mutation carriers

P. V. Gumaste, L. A. Penn, R. M. Cymerman, T. Kirchhoff, D. Polsky, B. McLellan

Research output: Contribution to journalReview articlepeer-review

46 Scopus citations


Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. Research evaluating the association between BRCA1/2 mutations and skin cancer is limited and has produced inconsistent results. Herein, we review the current literature on the risk of melanoma and nonmelanoma skin cancers in BRCA1/2 mutation carriers. No studies have shown a statistically significant risk of melanoma in BRCA1 families. BRCA2 mutations have been linked to melanoma in large breast and ovarian cancer families, though a statistically significant elevated risk was reported in only one study. Five additional studies have shown some association between BRCA2 mutations and melanoma, while four studies did not find any association. With respect to nonmelanoma skin cancers, studies have produced conflicting results. Given the current state of medical knowledge, there is insufficient evidence to warrant increased skin cancer surveillance of patients with a confirmed BRCA1/2 mutation or a family history of a BRCA1/2 mutation, in the absence of standard risk factors. Nonetheless, suspected BRCA1/2 mutation carriers should be counselled about skin cancer risks and may benefit from yearly full skin examinations. What's already known about this topic? While BRCA1/2 mutation carriers have a well-documented risk of breast and ovarian cancer, their risk of cancers at other sites is less clear. What does this study add? Our review demonstrates there is inconclusive evidence to support a strong link between BRCA1/2 mutations and skin cancer. Increased skin cancer surveillance in BRCA1/2 mutation carriers is not recommended.

Original languageEnglish (US)
Pages (from-to)1498-1506
Number of pages9
JournalBritish Journal of Dermatology
Issue number6
StatePublished - Jun 1 2015
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology


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