Evidence against PALB2 involvement in Icelandic breast cancer susceptibility
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- 作者：Haukur Gunnarsson (1)
Adalgeir Arason (1)
Elizabeth M Gillanders (2)
Bjarni A Agnarsson (1)
Gudrun Johannesdottir (1)
Oskar Th Johannsson (3)
Rosa B Barkardottir (1) - 刊名：Journal of Negative Results in BioMedicine
- 出版年：2008
- 出版时间：December 2008
- 年：2008
- 卷：7
- 期：1
- 全文大小：165KB
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Adalgeir Arason (1)
Elizabeth M Gillanders (2)
Bjarni A Agnarsson (1)
Gudrun Johannesdottir (1)
Oskar Th Johannsson (3)
Rosa B Barkardottir (1)
1. Department of Pathology, Landspitali 鈥?University Hospital, Reykjavik, Iceland
2. Inherited Disease Research Branch, National Human Genome Research Institute, NIH, Baltimore, Maryland, USA
3. Department of Oncology, Landspitali 鈥?University Hospital, Reykjavik, Iceland - ISSN：1477-5751
文摘
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.