Evidence against PALB2 involvement in Icelandic breast cancer susceptibility

Haukur Gunnarsson¹ , Adalgeir Arason¹ , Elizabeth M Gillanders² , Bjarni A Agnarsson¹ , Gudrun Johannesdottir¹ , Oskar Th Johannsson³ and Rosa B Barkardottir¹

¹Department of Pathology, Landspitali – University Hospital, Reykjavik, Iceland

²Inherited Disease Research Branch, National Human Genome Research Institute, NIH, Baltimore, Maryland, USA

³Department of Oncology, Landspitali – University Hospital, Reykjavik, Iceland

author email corresponding author email

Journal of Negative Results in BioMedicine 2008, 7:5doi:10.1186/1477-5751-7-5


Published:	17 July 2008

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.