Genetics of Skin Cancer (references to BRCA (BAP1) and BRCA2

National Cancer Institute


BRCA-Associated Protein 1 (BAP1) BRCA-associated protein 1 (BAP1) has recently emerged as a gene implicated both in sporadic and hereditary melanomas......

BRCA2

The Breast Cancer Linkage Consortium found that mutations in BRCA2 were associated with a relative risk of melanoma of 2.58 (95% CI, 1.3–5.2).[155] A second study reported a similar increase in risk, although the result fell short of statistical significance.[156] In contrast, another large cohort study of BRCA2 mutation carriers in the Netherlands showed a decreased risk of melanoma; however, the expected incidence of melanoma was rare in this population, and this result reflects a difference of only two melanoma cases.[157] Ashkenazi Jewish melanoma patients have not been shown to have an increased prevalence of the three founder mutations in BRCA1 and BRCA2 that are commonly found in this population.[158] Overall, the evidence for increased risk of melanoma in the BRCA2 population is inconsistent at this time.

(Refer to the BRCA1 and BRCA2 section in the PDQ summary on Genetics of Breast and Ovarian Cancer for more information.)