eISSN: 1897-4309
ISSN: 1428-2526
Contemporary Oncology/Współczesna Onkologia
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SCImago Journal & Country Rank
1/2001
vol. 5
 
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abstract:

BRCA2 mutation analysis in male breast cancer patients in Poland

Aldona Karczewska, Andrzej Mackiewicz, Danuta Bręborowicz, Dariusz Godlewski, Eliza Kwiatkowska, Katarzyna M. Lamperska, Marek Teresiak, Małgorzata Stawicka, Włodzimierz J. Krzyżosiak

Współcz Onkol (2001) vol. 5, 1 (5-8)
Online publish date: 2003/07/09
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Breast cancer is a rare disease in men. Germ-line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases. The present study was performed on a series of 38 consenting patients not selected for family history of breast/ovarian cancer. The entire coding region of the BRCA2 gene was analyzed for germ-line mutations to evaluate the association between BRCA2 gene and male breast cancer in Poland. We identified five frameshift mutations (13%) and five missense unclassified variants (13%) of the BRCA2 gene. The frequencies of missense alterations were examined in a set of 200 chromosomes. Six of 38 patients (16%) had a family history of breast cancer, in one first- or second-degree relative, including two mutation carriers. The results of this study suggest that germ-line BRCA2 mutations account for moderate proportion of male breast cancer in Poland.
keywords:

BRCA2, male breast cancer, germ-line mutations, mutation analysis

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