A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.
One of the most common melanoma-related CDKN2A mutations reported in North America is the V126D mutation. We examined nine markers surrounding CDKN2A in three American and four Canadian families carrying the V126D mutation. All seven families had a haplotype consistent with a common ancestor/founder for this mutation. In addition, the mutation appears to have originated 34-52 generations ago (1-LOD-unit support interval 13-98 generations).
Goldstein
A M
AM
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Liu
L
L
Shennan
M G
MG
Hogg
D
D
Tucker
M A
MA
Struewing
J P
JP
D002170:Canada; D004252:DNA Mutational Analysis; D018703:Founder Effect; D019942:Genes, p16 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D014481:United States