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High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
Author(s) -
Grzybowska Ewa,
Zientek Helena,
Jasinska Anna,
Rusin Marek,
Kozlowski Piotr,
Sobczak Krzysztof,
Sikorska Anna,
Kwiatkowska Eliza,
Gorniak Laura,
Kalinowska Ewa,
UtrackaHutka Beata,
Wloch Jan,
Chmielik Ewa,
Krzyzosiak Wlodzimierz J.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200012)16:6<482::aid-humu5>3.0.co;2-o
Subject(s) - biology , genetics , mutation , germline , germline mutation , gene , li–fraumeni syndrome , mutation frequency , ovarian cancer , breast cancer , population , cancer , medicine , environmental health
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.