A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

ABSTRACT: Germline mutations within the coding region of CDKN2A have been observed in affected members of melanoma-prone families. G101W is the most common CDKN2A missense mutation identified to date. It has been reported in several families from around the world, with a particularly high occurrence in France and Italy. Given the frequency of this mutation, we were interested in determining whether the mutation resulted from a single origin or represented a mutational hotspot in the CDKN2A gene. In addition, given the geographical distribution of the mutation, we examined the date of origination of the mutation and its migratory spread. We examined 10 families from Italy, 4 families from the United States, and 6 families from France with the G101W mutation. The following eight markers were employed

SUBMITTER: Ciotti P 

PROVIDER: S-EPMC1287180 | biostudies-literature | 2000 Aug

REPOSITORIES: biostudies-literature