Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22

Lisa Cannon‐Albright(University of Utah), David E. Goldgar(University of Utah), Laurence J. Meyer(University of Utah), Cathryn M. Lewis(University of Utah), David E. Anderson(The University of Texas MD Anderson Cancer Center), Jane W. Fountain(Center for Cancer Research), Monika E. Hegi(National Institutes of Health), Roger W. Wiseman(National Institutes of Health), Elizabeth M. Petty(Yale University), A. Bale(Yale University), Olufunmilayo I. Olopade(University of Chicago Medical Center), Manuel O. Dı́az(University of Chicago Medical Center), David J. Kwiatkowski(Brigham and Women's Hospital), Michael W. Piepkorn(University of Washington), John J. Zone(University of Utah), Mark H. Skolnick(University of Utah)
Science
November 13, 1992
10.1126/science.1439824
Cited by 525

Abstract

Linkage analysis of ten Utah kindreds and one Texas kindred with multiple cases of cutaneous malignant melanoma (CMM) provided evidence that a locus for familial melanoma susceptibility is in the chromosomal region 9p13-p22. The genetic markers analyzed reside in a candidate region on chromosome 9p21, previously implicated by the presence of homozygous deletions in melanoma tumors and by the presence of a germline deletion in an individual with eight independent melanomas. Multipoint linkage analysis was performed between the familial melanoma susceptibility locus (MLM) and two short tandem repeat markers, D9S126 and the interferon-alpha (IFNA) gene, which reside in the region of somatic loss in melanoma tumors. An analysis incorporating a partially penetrant dominant melanoma susceptibility locus places MLM near IFNA and D9S126 with a maximum location score of 12.71. Therefore, the region frequently deleted in melanoma tumors on 9p21 presumably contains a locus that plays a critical role in predisposition to familial melanoma.

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