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. 1997 May;60(5):1050–1058.

A low proportion of BRCA2 mutations in Finnish breast cancer families.

P Vehmanen 1, L S Friedman 1, H Eerola 1, L Sarantaus 1, S Pyrhönen 1, B A Ponder 1, T Muhonen 1, H Nevanlinna 1
PMCID: PMC1712419  PMID: 9150152

Abstract

One hundred breast cancer families were identified at the Helsinki University Central Hospital in Finland and were screened for germ-line mutations in the coding regions and splice boundaries of the BRCA2 gene. Eight families (8%) were found to carry five different mutations, all of which are predicted to prematurely truncate the protein product. These BRCA2 families have early-onset breast cancer (mean and median age = 49 years), with four of the eight families including ovarian cancer but with no families including male breast cancer. A wide spectrum of other cancers also is seen in these families. Three mutations were identified in more than one family, and haplotype analysis in the families suggested a common founder for each recurrent mutation. One recurrent mutation, 999del5, previously has been noted as a common mutation in Iceland. The relationship between the Icelandic 999del5 mutation and the Finnish 999del5 mutation was explored by comparison of families from both countries. A common haplotype covering a minimal region intragenic to the BRCA2 gene was shared between the Icelandic and the Finnish mutation carriers.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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