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
Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland.
Int J Cancer. 2003 Oct 10;106(6):942-5. 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.
越来越多的证据表明，遗传因素在卵巢癌中所起的作用比在成年期其他任何常见癌症中都更大。这在很大程度上归因于BRCA1或BRCA2基因的高突变频率。在波兰，BRCA1基因的3种常见始祖突变占已鉴定出BRCA突变的大多数家族。我们开展这项研究是为了估计364名未经选择的卵巢癌女性以及177名有卵巢癌且有乳腺癌或卵巢癌家族史的女性中3种BRCA1始祖突变（5382insC、C61G和4153delA）中任何一种的患病率。在364名未经选择的卵巢癌女性中有49名（13.5%）检测到突变，在177名家族性卵巢癌女性中有58名（32.8%）检测到突变。大多数有卵巢癌且携带BRCA1突变的女性没有乳腺癌或卵巢癌家族史。波兰卵巢癌女性中BRCA1突变的高频率支持了以下建议：应为所有波兰卵巢癌女性提供遗传易感性检测，并为她们及其亲属提供咨询服务。在引入国家基因筛查计划之前，在其他国家开展突变调查很重要。
