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

eISSN: 1897-4309
ISSN: 1428-2526

Contemporary Oncology/Współczesna Onkologia

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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 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

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

Aldona Karczewska

,

Andrzej Mackiewicz

,

Danuta Bręborowicz

,

Dariusz Godlewski

,

Eliza Kwiatkowska

,

Katarzyna M. Lamperska

,

Marek Teresiak

,

Małgorzata Stawicka

,

Włodzimierz J. Krzyżosiak