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Evidence against PALB2 involvement in Icelandic breast cancer susceptibility

By Haukur Gunnarsson, Adalgeir Arason, Elizabeth M Gillanders, Bjarni A Agnarsson, Gudrun Johannesdottir, Oskar Th Johannsson and Rosa B Barkardottir

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

Topics: Brief Report
Publisher: BioMed Central
OAI identifier: oai:pubmedcentral.nih.gov:2491591
Provided by: PubMed Central

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Citations

  1. (2007). A recurrent mutation in PALB2 in Finnish cancer families. Nature
  2. (2001). B: mtDNA and the Islands of the North Atlantic: Estimating the Proportions of Norse and Gaelic Ancestry.
  3. (1996). Barkardottir RB: High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res
  4. (1998). Barkardottir RB: Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients. Hum Mutat
  5. (2005). BL: Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization. Cancer Res
  6. (1993). Crockford GP: Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.
  7. (2007). de Winter JP: Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet
  8. (2006). DM: Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell
  9. Duffy's QIMR Homepage [http://www.qimr.edu.au/dav idD/]
  10. (1998). Egilsson V: A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/ BRCA2 linked breast cancer in Iceland.
  11. (2000). Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland. The American Journal of Human Genetics
  12. (1988). HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res
  13. (2007). MR: PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet
  14. (2007). N: Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet
  15. (2007). Narod SA: Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res
  16. (2001). Nevanlinna H: Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families.
  17. (2000). Nevanlinna H: Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.
  18. Olopade OI: Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations.
  19. (2008). The emerging landscape of breast cancer susceptibility. Nat Genet
  20. (1991). WD: Genetic analysis of breast cancer in the cancer and steroid hormone study.

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