A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma

Craig C. Teerlink, Chad Huff, Jeff Stevens, Yao Yu, Sheri L. Holmen, Mark R. Silvis, Kirby Trombetti, Hua Zhao, Douglas Grossman, James M. Farnham, Jingran Wen, Julio C. Facelli, Alun Thomas, Markus Babst, Scott R. Florell, Laurence Meyer, John J. Zone, Sancy Leachman, Lisa A. Cannon-Albright

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1380-1385
Number of pages6
JournalJournal of the National Cancer Institute
Issue number12
StatePublished - Dec 1 2018

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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