Prevalence of two BRCA1 mutations, 5382insC and 300T   & gt;  G, in ovarian cancer patients from Ukraine

AbstractOvarian cancer is the seventh most common cancer in women worldwide and the leading cause of gynecological malignant diseases-related deaths in women. The most significant risk factor for ovarian cancer is an inherited genetic mutation in one of two genes:breast cancer gene 1 (BRCA1) orbreast cancer gene 2 (BRCA2). The germline mutation c.5266dupC (also known as 5382insC or 5385insC) is the most common mutation among Slavic patients with breast and/or ovarian cancer. Missense mutation c.181T  >  G (also known as 300T >  G or p.C61G) is regarded as the founder change in many Central European countries. We screened 306 ovarian cancer patients diagnosed at different ages by mutagenically separated polymerase chain reaction (PCR) and real-time PCR. A total of 25BRCA1 mutations were detected (18 cases of 5382insC and 7 cases of 300  T >  G). The frequency of theBRCA1 5382insC mutation is similar in breast and ovarian cancer patients from Ukraine, but the frequency of 300T  >  G was estimated in Ukraine at first time.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research