Melanoma predisposition - A limited role for germline BRCA1 and BRCA2 variants.

PIGMENT CELL & MELANOMA RESEARCH(2020)

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摘要
For several decades, the role of germline BRCA1/BRCA2 variants in predisposition to melanoma has been controversial. Several groups have reported a positive association between BRCA variant status and melanoma formation, while other studies have failed to find an association (Gumaste et al., 2015). In the same way, analyses of familial melanoma cohorts have reported germline pathogenic alleles of BRCA2 (Gumaste et al., 2015; Tuominen et al., 2016) providing some evidence that germline variants in these genes might contribute to disease pathogenesis - but do they?.
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