Over the last few years, there has been mixed information about the risk of melanoma in BRCA1/2 carriers – while earlier studies had suggested an association,1,2 other studies showed no association.3,4 Thus, based on current evidence, it is unclear if BRCA1 and/or BRCA2 pathogenic variants increase melanoma risk based on the current evidence.5,6 However, more recently, a study, which included ICARE participants, reported that compared to 1.5% in the general population, the risk of melanoma may be slightly higher in BRCA1 carriers (2.5%) and BRCA2 carriers (2.3%).7 Ultimately, given it is reasonable to do a regular skin exam in the general population, this suggestion certainly holds in individuals with a BRCA1 or BRCA2 mutation as well.
1Breast Cancer Linkage Consortium. J Natl Cancer Inst. 1999;91(15):1310-6. PMID: 10433620;
2Moran, et al. Fam Cancer. 2012;11(2):235-42. PMID: 22187320;
3van Asperen, et al. J Med Genet. 2005;42(9):711-9. PMID: 16141007;
4Kadouri, et al. Fam Cancer. 2009;8(1):29-32. PMID: 18679827;
5Gumaste, et al. Br J Dermatol. 2015;172(6):1498-506. PMID: 25524463;
6Johansson, et al. Melanoma Res. 2019;29(5):483-490. PMID: 31464824;
7Narod, et al. Hered Cancer Clin Pract. 2024;22(1):7. PMID: 38741145.
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