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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