Localization of a novel melanoma susceptibility locus to 1p22

Gillanders, Elizabeth, Juo, Suh-Hang Hank, Holland, Elizabeth A., Jones, MaryPat, Nancarrow, Derek, Freas-Lutz, Diana, Sood, Raman, Park, Naeun, Faruque, Mezbah, Markey, Carol, Kefford, Richard F., Palmer, Jane, Bergman, Wilma, Bishop, D. Timothy, Tucker, Margaret A., Bressac-de Paillerets, Brigitte, Hansson, Johan, The Lund Melanoma Study Group, Stark, Mitchell, Gruis, Nelleke, Newton Bishop, Julia, Goldstein, Alisa M., Bailey-Wilson, Joan E., Mann, Graham J., Hayward, Nicholas, Trent, Jeffrey, Martin, Nicholas G. and The Melanoma Genetics Consortium (2003) Localization of a novel melanoma susceptibility locus to 1p22. American Journal of Human Genetics, 73 2: 301-313. doi:10.1086/377140


Author Gillanders, Elizabeth
Juo, Suh-Hang Hank
Holland, Elizabeth A.
Jones, MaryPat
Nancarrow, Derek
Freas-Lutz, Diana
Sood, Raman
Park, Naeun
Faruque, Mezbah
Markey, Carol
Kefford, Richard F.
Palmer, Jane
Bergman, Wilma
Bishop, D. Timothy
Tucker, Margaret A.
Bressac-de Paillerets, Brigitte
Hansson, Johan
The Lund Melanoma Study Group
Stark, Mitchell
Gruis, Nelleke
Newton Bishop, Julia
Goldstein, Alisa M.
Bailey-Wilson, Joan E.
Mann, Graham J.
Hayward, Nicholas
Trent, Jeffrey
Martin, Nicholas G.
The Melanoma Genetics Consortium
Title Localization of a novel melanoma susceptibility locus to 1p22
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2003
Sub-type Article (original research)
DOI 10.1086/377140
Volume 73
Issue 2
Start page 301
End page 313
Total pages 13
Editor S. T. Warren
Place of publication Chicago
Publisher University of Chicago Press
Collection year 2003
Language eng
Subject C1
321015 Oncology and Carcinogenesis
730108 Cancer and related disorders
Abstract Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which CDKN2A and CDK4 involvement has been excluded. The highest two-point parametric LOD score (1.82; recombination fraction [theta] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (theta = 0) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores 13 in this subset, with the highest parametric LOD score, 4.95 (theta = 0) ( nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.
Keyword Dysplastic Nevus Syndrome
Familial Melanoma
Linkage Analysis
Germline Mutations
Cutaneous Melanoma
Pancreatic-cancer
Dutch Families
Prone Families
Risk
Q-Index Code C1

 
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