title: Evidence against PALB2 involvement in Icelandic breast cancer susceptibility.
abstract: Several mutations in the PALB2 gene (partner and localizer of BRCA2) have been associated with an increased risk of breast cancer, including a founder mutation, 1592delT, reported in Finnish breast cancer families. Although most often the risk is moderate, it doesn't exclude families with high-risk mutations to exist and such observations have been reported. To see if high-risk PALB2-mutations may be present in the geographically confined population of Iceland, linkage analysis was done on 111 individuals, thereof 61 breast cancer cases, from 9 high-risk non-BRCA1/BRCA2 breast cancer families, targeting the PALB2 region. Also, screening for the 1592delT founder mutation in the 9 high-risk families and in 638 unselected breast cancer cases was performed. The results indicate no linkage in any of the high-risk families and screening for the 1592delT mutation was negative in all samples. PALB2 appears not to be a significant factor in high-risk breast cancer families in Iceland and the 1592delT mutation is not seen to be associated with breast cancer in Iceland.
authors.affiliation: Department of Pathology, Landspitali - University Hospital, Reykjavik, Iceland. haukur@landspitali.is
authors.forename: Haukur
authors.initials: H
authors.lastname: Gunnarsson
authors.forename: Adalgeir
authors.initials: A
authors.lastname: Arason
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Gillanders
authors.forename: Bjarni A
authors.initials: BA
authors.lastname: Agnarsson
authors.forename: Gudrun
authors.initials: G
authors.lastname: Johannesdottir
authors.forename: Oskar Th
authors.initials: OT
authors.lastname: Johannsson
authors.forename: Rosa B
authors.initials: RB
authors.lastname: Barkardottir
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007055:Iceland; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D015203:Reproducibility of Results; 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