作者
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
发表日期
2004/7/10
期刊
International journal of cancer
卷号
110
期号
5
页码范围
683-686
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
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 …
引用总数
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B Górski, A Jakubowska, T Huzarski, T Byrski… - International journal of cancer, 2004
