title: Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22.
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.
authors.affiliation: Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City 84132.
authors.forename: L A
authors.initials: LA
authors.lastname: Cannon-Albright
authors.forename: D E
authors.initials: DE
authors.lastname: Goldgar
authors.forename: L J
authors.initials: LJ
authors.lastname: Meyer
authors.forename: C M
authors.initials: CM
authors.lastname: Lewis
authors.forename: D E
authors.initials: DE
authors.lastname: Anderson
authors.forename: J W
authors.initials: JW
authors.lastname: Fountain
authors.forename: M E
authors.initials: ME
authors.lastname: Hegi
authors.forename: R W
authors.initials: RW
authors.lastname: Wiseman
authors.forename: E M
authors.initials: EM
authors.lastname: Petty
authors.forename: A E
authors.initials: AE
authors.lastname: Bale
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002648:Child; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D004416:Dysplastic Nevus Syndrome / Q000235:genetics; D005260:Female; D016147:Genes, Tumor Suppressor; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D013781:Texas; D014589:Utah
chemical_list: D005819:Genetic Markers