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PMID: 12918074 已发表 · ppublish 英语

Hereditary ovarian cancer in Poland.

International journal of cancer ·第 106 卷 ·第 6 期 ·2003-11-17

Menkiszak Janusz, Gronwald Jacek, Górski Bohdan, Jakubowska Anna, Huzarski Tomasz, Byrski Tomasz, Foszczyńska-Kłoda Małgorzata, Haus Olga, Janiszewska Hanna, Perkowska Magdalena, Brozek Izabela, Grzybowska Ewa, Zientek Helena, Góźdź Stanisław, Kozak-Klonowska Beata, Urbański Krzysztof, Miturski Roman, Kowalczyk Jerzy, Pluzańska Anna, Niepsuj Stanisław, Koc Jan, Szwiec Marek, Drosik Kazimierz, Mackiewicz Andrzej, Lamperska Katarzyna, Strózyk Elwira, Godlewski Dariusz, Stawicka Małgorzata, Waśko Bernard, Bebenek Marek, Rozmiarek Andrzej, Rzepka-Górska Izabella, Narod Steven A, Lubiński Jan

摘要

There is increasing evidence that hereditary factors play a greater role in ovarian cancer than in any of the other common cancers of adulthood. This is attributable, to a large extent, to a high frequency of mutations in the BRCA1 or BRCA2 genes. In Poland, 3 common founder mutations in BRCA1 account for the majority of families with identified BRCA mutations. Our study was conducted in order to estimate the prevalence of any of 3 founder BRCA1 mutations (5382insC, C61G and 4153delA) in 364 unselected women with ovarian cancer, and among 177 women with ovarian cancer and a family history of breast or ovarian cancer. A mutation was identified in 49 out of 364 unselected women with ovarian cancer (13.5%) and in 58 of 177 women with familial ovarian cancer (32.8%). The majority of women with ovarian cancer and a BRCA1 mutation have no family history of breast or ovarian cancer. The high frequency of BRCA1 mutations in Polish women with ovarian cancer supports the recommendation that all Polish women with ovarian cancer should be offered testing for genetic susceptibility, and that counseling services be made available to them and to their relatives. It is important that mutation surveys be conducted in other countries prior to the introduction of national genetic screening programs.

文献信息
期刊
International journal of cancer
期刊简称
Int J Cancer
发表日期
2003-11-17
收录日期
2003-08-14
更新日期
2016-03-03
语言
英语
国家/地区
United States
NLM ID
0042124
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