Get 20M+ Full-Text Papers For Less Than $1.50/day. Subscribe now for You or Your Team.

Learn More →

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and... Germ‐line mutations in BRCA1 and BRCA2 genes result in a significantly increased risk of breast and ovarian cancer. Other genes involved in an increased predisposition to breast cancer include the TP53 gene, mutated in Li‐Fraumeni syndrome. To estimate the frequency of germ‐line mutations in these three genes in Upper Silesia, we have analyzed 47 breast/ovarian cancer families from that region. We found five different disease predisposing mutations in 17 (36%) families. Twelve families (25.5%) carried known BRCA1 mutations (5382insC and C61G), four families (8.5%) carried novel BRCA2 mutations (9631delC and 6886delGAAAA), and one family (2%) harbored novel mutation 1095del8 in the TP53 gene, which is the largest germline deletion in coding sequence of this gene identified thus far. The 5382insC mutation in BRCA1 was found in 11 families and the 9631delC mutation in BRCA2 occurred in three families. These two mutations taken together contribute to 82% of all mutations found in this study, and 30% of the families investigated harbor one of these mutations. The very high frequency of common mutations observed in these families can only be compared to that reported for Ashkenazi Jewish, Icelandic, and Russian high‐risk families. This frequency, however, may not be representative for the entire Polish population. The observed distribution of mutations will favor routine pre‐screening of predisposed families using a simple and cost‐effective test. Hum Mutat 16:482–490, 2000. © 2000 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Mutation Wiley

Loading next page...
 
/lp/wiley/high-frequency-of-recurrent-mutations-in-brca1-and-brca2-genes-in-wtnE9BOCkH

References (38)

Publisher
Wiley
Copyright
Copyright © 2000 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1059-7794
eISSN
1098-1004
DOI
10.1002/1098-1004(200012)16:6<482::aid-humu5>3.0.co;2-o
Publisher site
See Article on Publisher Site

Abstract

Germ‐line mutations in BRCA1 and BRCA2 genes result in a significantly increased risk of breast and ovarian cancer. Other genes involved in an increased predisposition to breast cancer include the TP53 gene, mutated in Li‐Fraumeni syndrome. To estimate the frequency of germ‐line mutations in these three genes in Upper Silesia, we have analyzed 47 breast/ovarian cancer families from that region. We found five different disease predisposing mutations in 17 (36%) families. Twelve families (25.5%) carried known BRCA1 mutations (5382insC and C61G), four families (8.5%) carried novel BRCA2 mutations (9631delC and 6886delGAAAA), and one family (2%) harbored novel mutation 1095del8 in the TP53 gene, which is the largest germline deletion in coding sequence of this gene identified thus far. The 5382insC mutation in BRCA1 was found in 11 families and the 9631delC mutation in BRCA2 occurred in three families. These two mutations taken together contribute to 82% of all mutations found in this study, and 30% of the families investigated harbor one of these mutations. The very high frequency of common mutations observed in these families can only be compared to that reported for Ashkenazi Jewish, Icelandic, and Russian high‐risk families. This frequency, however, may not be representative for the entire Polish population. The observed distribution of mutations will favor routine pre‐screening of predisposed families using a simple and cost‐effective test. Hum Mutat 16:482–490, 2000. © 2000 Wiley‐Liss, Inc.

Journal

Human MutationWiley

Published: Dec 1, 2000

Keywords: hereditary breast‐ovarian cancer; BRCA1; BRCA2; TP53; p53; Li‐Fraumeni syndrome; LFS; recurrent mutations; Poland

There are no references for this article.