Hereditary ovarian cancer in Poland

• Published in: International journal of cancer Vol. 106; no. 6; pp. 942 - 945
• Main Authors: Menkiszak, Janusz, Gronwald, Jacek, Górski, Bohdan, Jakubowska, Anna, Huzarski, Tomasz, Byrski, Tomasz, Foszczyńska‐Kłoda, Małgorzata, Haus, Olga, Janiszewska, Hanna, Perkowska, Magdalena, Brożek, Izabela, Grzybowska, Ewa, Zientek, Helena, Góźdź, Stanisław, Kozak‐Klonowska, Beata, Urbański, Krzysztof, Miturski, Roman, Kowalczyk, Jerzy, Plużańska, Anna, Niepsuj, Stanisław, Koc, Jan, Szwiec, Marek, Drosik, Kazimierz, Mackiewicz, Andrzej, Lamperska, Katarzyna, Stróżyk, Elwira, Godlewski, Dariusz, Stawicka, Małgorzata, Waśko, Bernard, Bebenek, Marek, Rozmiarek, Andrzej, Rzepka‐Górska, Izabella, Narod, Steven A., Lubiński, Jan
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 10.10.2003; Wiley-Liss
• Subjects: Biological and medical sciences; BRCA1; BRCA2 Protein - genetics; epidemiology; Female; Female genital diseases; Gene Frequency; Genes, BRCA1; Genetic Predisposition to Disease; Gynecology. Andrology. Obstetrics; hereditary ovarian cancer; Humans; Medical sciences; Middle Aged; Mutation - genetics; Neoplasm Proteins - genetics; Ovarian Neoplasms - epidemiology; Ovarian Neoplasms - genetics; Poland; Poland - epidemiology; Prevalence; Tumors; Poland; Europe; Human; Prevalence; Malignant tumor; Founder effect; Hereditary; Epidemiology; Female genital diseases; Genetic disease; Ovarian diseases; Ovary; Genetics; Mutation; Public health; Tumor suppressor gene
• ISSN: 0020-7136; 1097-0215
• DOI: 10.1002/ijc.11338

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. © 2003 Wiley‐Liss, Inc.