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BRCA2 germline mutations in male breast cancer patients in the Polish population

BRCA2 germline mutations in male breast cancer patients in the Polish population 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 37 consenting patients not selected for family history of breast/ovarian cancer. The entire coding region of the BRCA2 gene and two exons of the AR gene were analyzed for germ‐line mutations to evaluate the association between BRCA2 and AR genes and male breast cancer in Poland. We identified four frameshift mutations (11%) in exons 10, 11, 17 and 18, two of them were novel: 6495del3insC and 8457insA. Three missense unclassified variants (8%) of the BRCA2 gene were also identified. The frequencies of missense alterations were examined in a set of 200 chromosomes. No alteration of the AR gene was found. We did not observe much difference in clinicopathological features between carriers and non‐carriers of BRCA2 mutations. Five of 37 patients (14%) had a family history of breast cancer, in one first‐ or second‐degree relative, among the latter was one mutation carrier. The results of this study suggest that germ‐line BRCA2 mutations account for rather small proportion of male breast cancer in Poland. © 2001 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Mutation Wiley

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References (16)

Publisher
Wiley
Copyright
Copyright © 2001 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1059-7794
eISSN
1098-1004
DOI
10.1002/1098-1004(2001)17:1<73::aid-humu12>3.0.co;2-o
Publisher site
See Article on Publisher Site

Abstract

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 37 consenting patients not selected for family history of breast/ovarian cancer. The entire coding region of the BRCA2 gene and two exons of the AR gene were analyzed for germ‐line mutations to evaluate the association between BRCA2 and AR genes and male breast cancer in Poland. We identified four frameshift mutations (11%) in exons 10, 11, 17 and 18, two of them were novel: 6495del3insC and 8457insA. Three missense unclassified variants (8%) of the BRCA2 gene were also identified. The frequencies of missense alterations were examined in a set of 200 chromosomes. No alteration of the AR gene was found. We did not observe much difference in clinicopathological features between carriers and non‐carriers of BRCA2 mutations. Five of 37 patients (14%) had a family history of breast cancer, in one first‐ or second‐degree relative, among the latter was one mutation carrier. The results of this study suggest that germ‐line BRCA2 mutations account for rather small proportion of male breast cancer in Poland. © 2001 Wiley‐Liss, Inc.

Journal

Human MutationWiley

Published: Jan 1, 2001

Keywords: BRCA2; androgen receptor; AR; male breast cancer; germline BRCA2 mutations; epidemiology; Poland

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