title: Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma.
abstract: PALB2 is a breast and pancreas cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. This functional relationship made PALB2 a candidate gene for susceptibility to BRCA2-related cancers such as melanoma. The purpose of this study was to screen for the presence of germline mutations in PALB2 in familial melanoma cases. We sequenced the exons and intron-exon boundaries of PALB2 in probands from 53 families with familial melanoma where CDKN2A mutations were absent. A number of previously reported coding and non-coding variants were observed. However, no truncating mutations were identified. These results indicate that deleterious PALB2 mutations are unlikely to play a significant role in familial melanoma.
authors.affiliation: Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Sabbaghian
authors.forename: R
authors.initials: R
authors.lastname: Kyle
authors.forename: A
authors.initials: A
authors.lastname: Hao
authors.forename: D
authors.initials: D
authors.lastname: Hogg
authors.forename: M
authors.initials: M
authors.lastname: Tischkowitz
mesh_terms: D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins