Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

ABSTRACT:

Background

The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer.

Methods

These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents.

Results

Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the ef

SUBMITTER: Goldstein AM 

PROVIDER: S-EPMC2598064 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature