Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

ABSTRACT: Germline genetic variants have been identified, which predispose individuals and families to develop melanoma. Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether there is a heritable genetic contribution to variation in tumor thickness. If confirmed, this will justify the search for specific genetic variants influencing tumor thickness. To address this, we estimated the proportion of variation in tumor thickness attributable to genome-wide genetic variation (variant-based heritability) using unrelated patients with measured primary cutaneous melanoma thickness. As a secondary analysis, we conducted a genome-wide association study (GWAS) of tumor thickness. The analyses utilized 10 604 individuals with pri

SUBMITTER: Mangantig E 

PROVIDER: S-EPMC7788289 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature