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A high proportion of founder BRCA1 mutations in Polish breast cancer families

✍ Scribed by Bohdan Górski; Anna Jakubowska; Tomasz Huzarski; Tomasz Byrski; Jacek Gronwald; Ewa Grzybowska; Andrzej Mackiewicz; Malgorzata Stawicka; Marek Bębenek; Dagmara Sorokin; Łucja Fiszer-Maliszewska; Olga Haus; Hanna Janiszewska; Stanisław Niepsuj; Stanisław Góźdź; Lech Zaremba; Michał Posmyk; Maria Płużańska; Ewa Kilar; Dorota Czudowska; Bernard Waśko; Roman Miturski; Jerzy R. Kowalczyk; Krzysztof Urbański; Marek Szwiec; Jan Koc; Bogusław Dębniak; Andrzej Rozmiarek; Tadeusz Dębniak; Cezary Cybulski; Elzbieta Kowalska; Aleksandra Tołoczko-Grabarek; Stanisław Zajączek; Janusz Menkiszak; Krzysztof Mędrek; Bartłomiej Masojć; Marek Mierzejewski; Steven Alexander Narod; Jan Lubiński

Publisher
John Wiley and Sons
Year
2004
Tongue
French
Weight
71 KB
Volume
110
Category
Article
ISSN
0020-7136

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✦ Synopsis

Abstract

Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast–ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRCA mutations distributed throughout the country. This question has important implications for health policy and the design of epidemiologic studies. To establish the relative contributions of founder and nonfounder BRCA mutations, we established the entire spectrum of BRCA1 and BRCA2 mutations in a large set of breast–ovarian cancer families with origins in all regions of Poland. We sequenced the entire coding regions of the BRCA1 and BRCA2 genes in 100 Polish families with 3 or more cases of breast cancer and in 100 families with cases of both breast and ovarian cancer. A mutation in BRCA1 or BRCA2 was detected in 66% of breast cancer families and in 63% of breast–ovarian cancer families. Of 129 mutations, 122 (94.6%) were in BRCA1 and 7 (5.4%) were in BRCA2. Of the 122 families with BRCA1 mutations, 119 (97.5%) had a recurrent mutation (i.e., one that was seen in at least 2 families). In particular, 111 families (91.0%) carried one of the 3 common founder mutations. The mutation spectrum was not different between families with and without ovarian cancer. These findings suggest that a rapid and inexpensive assay directed at identifying the 3 common founder mutations will have a sensitivity of 86% compared to a much more costly and labor‐intensive full‐sequence analysis of both genes. This rapid test will facilitate large‐scale national epidemiologic and clinical studies of hereditary breast cancer, potentially including studies of chemoprevention. © 2004 Wiley‐Liss, Inc.

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