Blecharz Paweł, Szatkowski Wiktor, Klimek Małgorzata, Urbański Krzysztof
Klinika Ginekologii Onkologicznej, Centrum Onkologii, Instytut im.M.Skłodowskiej-Curie, Oddział Kraków.
Przegl Lek. 2009;66(12):1046-8.
Germinal mutations of BRCA1/BRCA2 genes are one of the important reasons of breast and ovarian cancer development. The prevalence of BRCA1 mutations in Polish population is relatively frequent, particularly among families at high-risk of breast and/or ovarian cancer. Moreover, the presence of "founder effect" is characteristic for those families. The aim of this paper was analysis of the incidence of BRCA1 mutation among such families in province of Malopolska, Poland.
In the Genetic Outpatient Clinic of Center of Oncology, Cracow Department 630 families with positive and characteristic for hereditary breast and/or ovarian cancer familial history were registered since 2004. The main criterion were recommendations for genetic testing of families at high-risk, expressed in National Program for Cancer Control in Poland. The BRCA1 test was done in 710 representatives of families at high-risk of breast and/or ovarian cancer.
The BRCA1 mutations were found in 101 (16%) families. The domination of 3 types of mutation--5382insC, C61G and 4153delA--typical for Polish population, was described. They have been found in 94.6% of all mutation carriers.
The prevalence of BRCA1 mutations in families at high-risk of breast and/or ovarian cancer is relatively frequent. Among the carriers, the founder mutations were found in the most of cases.
BRCA1/BRCA2基因的胚系突变是乳腺癌和卵巢癌发生的重要原因之一。BRCA1突变在波兰人群中的发生率相对较高，尤其是在乳腺癌和/或卵巢癌高危家族中。此外，这些家族具有“奠基者效应”的特征。本文旨在分析波兰小波兰省此类家族中BRCA1突变的发生率。
自2004年起，在克拉科夫肿瘤中心遗传门诊登记了630个有遗传性乳腺癌和/或卵巢癌家族史且特征阳性的家族。主要标准是波兰国家癌症控制计划中对高危家族进行基因检测的建议。对710名乳腺癌和/或卵巢癌高危家族的代表进行了BRCA1检测。
在101个（16%）家族中发现了BRCA1突变。描述了3种典型的波兰人群突变类型——5382insC、C61G和4153delA——的主导地位。它们在所有突变携带者中的占比为94.6%。
乳腺癌和/或卵巢癌高危家族中BRCA1突变的发生率相对较高。在携带者中，大多数病例发现有奠基者突变。
