A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma.

ABSTRACT: Background:Statistically significant linkage of melanoma to chromosome 9q21 was previously reported in a Danish pedigree resource and independently confirmed in Utah high-risk pedigrees, indicating strong evidence that this region contains a melanoma predisposition gene. Methods:Whole-exome sequencing of pairs of related melanoma case subjects from two pedigrees with evidence of 9q21 linkage was performed to identify the responsible predisposition gene. Candidate variants were tested for association with melanoma in an independent set of 454 unrelated familial melanoma case subjects and 396 unrelated cancer-free control subjects from Utah, and 1534 melanoma case subjects and 1146 noncancer control subjects from Texas (MD Anderson) via a two-sided Fisher exact test. Results:A rare nonsynony

SUBMITTER: Teerlink CC 

PROVIDER: S-EPMC6292789 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature