Dataset Information

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 nonsynonymous variant in Golgi Membrane Protein 1 (GOLM1), rs149739829, shared in two hypothesized predisposition carriers in one linked pedigree was observed. Segregation of this variant in additional affected relatives of the index carriers was confirmed. A statistically significant excess of carriers of the variant was observed among Utah case subjects and control subjects (odds ratio [OR] = 9.81, 95% confidence interval [CI] = 8.35 to 11.26, P < .001) and statistically significantly confirmed in Texas case subjects and control subjects (OR = 2.45, 95% CI = 1.65 to 3.25, P = .02). Conclusion:These findings support GOLM1 as a candidate melanoma predisposition gene.

SUBMITTER: Teerlink CC

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

REPOSITORIES: biostudies-literature

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

Teerlink Craig C CC Huff Chad C Stevens Jeff J Yu Yao Y Holmen Sheri L SL Silvis Mark R MR Trombetti Kirby K Zhao Hua H Grossman Douglas D Farnham James M JM Wen Jingran J Facelli Julio C JC Thomas Alun A Babst Markus M Florell Scott R SR Meyer Laurence L Zone John J JJ Leachman Sancy S Cannon-Albright Lisa A LA

Journal of the National Cancer Institute 20181201 12

<h4>Background</h4>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.<h4>Methods</h4>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 tes ...[more]

PMID: 29659923

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Dataset Information

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

Publications

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

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