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A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes

Abstract

The BRCA2 gene on chromosome 13 has been shown to be associated with familial male and female breast cancer. Here we describe a study on BRCA2 in 21 Icelandic families, including 9 with male breast cancer. We have previously reported linkage to the BRCA2 region in an Icelandic male breast cancer family1 and subsequently found a strong indication of linkage to BRCA2 and the same BRCA2 haplotype in breast cancer cases from 15 additional families, indicating a common origin. We describe a five base-pair deletion in exon 9 of BRCA2 in an affected male from the male breast cancer family2. The same mutation occurs in all the families with the shared BRCA2 haplotype indicating a founder effect. Among mutation carriers there are 12 males with breast cancer, which accounts for 40% of all males diagnosed with breast cancer in Iceland over the past 40 years. Three of them have no family history of breast cancer indicating that this mutation may have variable penetrance. The same BRCA2 mutation appears to be associated with different cancer phenotypes in this population including male and female breast cancer, prostate cancer, pancreas cancer and ovarian cancer.

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References

  1. Thorlacius, S. et al. Linkage to BRCA2 region in hereditary male breast cancer. Lancet 346, 544–545 (1995).

    Article  CAS  Google Scholar 

  2. Tavtigian, S. et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nature Genet. 12, 333–337 (1996).

    Article  CAS  Google Scholar 

  3. Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–792 (1995).

    Article  CAS  Google Scholar 

  4. Jonasson, J.G., Agnarrson B.A., Thorlacius, S., Eyfjord, J.E. & Tulinius, H. Male breast cancer in Iceland. Int. J. Cancer 65, 446–449 (1996).

    Article  CAS  Google Scholar 

  5. Parkin, D.M., Muir, C.S., Whelan, S.L., Gao, Y.T., Ferlay, J. & Powell, J. in Cancer incidence in five continents. VI, 618–621 (IARC, Lyon, 1992).

    Google Scholar 

  6. Struewing, J.R. et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 11, 198–200 (1995).

    Article  CAS  Google Scholar 

  7. Barkardottir, R.B., Arason, A., Egilsson, V., Gudmundsson, J., Jonasdottir, A. & Johannesdottir, G. Chromosome 17q-linkage seems to be infrequent in Icelandic families at risk of breast cancer. Acta Oncol. 34, 657–662 (1995).

    Article  CAS  Google Scholar 

  8. Schutte, M. et al. Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region. Proc. Natl. Acad. Sci. USA 92, 5950–5954 (1995).

    Article  CAS  Google Scholar 

  9. Tonin, P. et al. A large multisite cancer family is linked to BRCA2. J. Med. Genet. 32, 982–984 (1995).

    Article  CAS  Google Scholar 

  10. Wright, O.K. & Manos, M. Sample preparation from paraffin-embedded tissues, in PCR Protocols; A Guide to Methods and Applications, (eds Innis, MA, Gelfand, D. H., Sninsky, J.J. & White, T.J.) 153–158 (Academic Press, San Diego, 1990).

    Google Scholar 

  11. Thorlacius, S., Borresen, A.L. & Eyfjord, J.E. Somatic p53 mutations in human breast carcinomas in an Icelandic population: a prognostic factor. Cancer Res. 53, 1637–1641 (1993).

    CAS  PubMed  Google Scholar 

  12. Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risk on small computers. Am. J. Hum. Genet. 36, 460–465 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

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Correspondence to Jorunn E. Eyfjörd.

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Thorlacius, S., Olafsdottir, G., Tryggvadottir, L. et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 13, 117–119 (1996). https://doi.org/10.1038/ng0596-117

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