Evidence against PALB2 involvement in Icelandic breast cancer susceptibility

• Published in: Journal of Negative Results in BioMedicine
• Main Authors: Gunnarsson, Haukur, Arason, Adalgeir, Gillanders, Elizabeth M, Agnarsson, Bjarni A, Johannesdottir, Gudrun, Johannsson, Oskar Th, Barkardottir, Rosa B
• Format: Text
• Language: English
• Published: BioMed Central 2008
• Subjects: Brief Report; Iceland
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2491591; http://www.ncbi.nlm.nih.gov/pubmed/18637200; https://doi.org/10.1186/1477-5751-7-5

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.