Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma

PA Johansson, V Nathan, LM Bourke… - Melanoma …, 2019 - journals.lww.com
Germline mutations of BRCA1 and BRCA2 predispose individuals to a high risk of breast
and ovarian cancer, and elevated risk of other cancers, including those of the pancreas and
prostate. BRCA2 mutation carriers may have increased risk of uveal melanoma (UM) and
cutaneous melanoma (CM), but associations with these cancers in BRCA1 mutation carriers
have been mixed. Here, we further assessed whether UM and CM are associated with
BRCA1 or BRCA2 by assessing the presence, segregation and reported/predicted …