BackgroundCausative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland.MethodsWe examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We studied 13 Polish causative founder variants in BRCA1 (c.5266dupC, c.4035delA, c.5251C > T, c.181 T > G, c.676delT, c.68_69delAG, c.3700_3704delGTAAA, c.1687C > T, c.3756_3759delGTCT) and in BRCA2 (c.658_659delGT, c.7910_7914delCCTTT, c.3847_3848delGT, c.5946delT).ResultsA BRCA1 causative founder variants were detected in 10 of the 158 (6.3%) ovarian cancer cases. BRCA2 causative founder variants were not observed. The c.5266dupC mutation was detected in 6 patients, c.181 T > G mutation in 3 patients and the c.676delT mutation in 1 patient. The median age of diagnosis of the 10 hereditary ovarian cancers was 55.5 years of age.ConclusionsThe frequency of 13 causative founder variants in Podkarpacie was lower than in other regions of Poland. Testing of three BRCA1 mutations (c.5266dupC, c.181 T > G, c.676delT) should be considered a sensitive test panel.

中文翻译：

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波兰东南部卵巢癌患者中 BRCA1 和 BRCA2 致病基因变异的频率

背景 BRCA1 和 BRCA2 的致病变异是乳腺癌和卵巢癌的公认危险因素。在波兰，BRCA1 中的致病创始人变异是造成很大比例的卵巢癌病例的原因，然而，各种突变频率的区域差异可能存在。尚未在波兰东南部地区研究卵巢癌患者之间 BRCA1/2 突变的谱和频率。方法我们检查了来自 Podkarpacie 地区的 158 例连续未选择的卵巢癌患者病例。我们研究了 BRCA1 中的 13 个波兰致病创始人变异（c.5266dupC、c.4035delA、c.5251C > T、c.181 T > G、c.676delT、c.68_69delAG、c.3700_3704delGTAAA、c.1687C > T、c .3756_3759delGTCT）和 BRCA2（c.658_659delGT、c.7910_7914delCCTTT、c.3847_3848delGT、c.5946delT）。结果 158 例（6.3%）卵巢癌病例中有 10 例（6.3%）检测到 BRCA1 致病创始人变异。未观察到 BRCA2 致病创始人变异。6例患者检测到c.5266dupC突变，3例患者检测到c.181 T > G突变，1例患者检测到c.676delT突变。10 例遗传性卵巢癌的中位诊断年龄为 55.5 岁。结论 Podkarpacie 的 13 种致病创始人变异的频率低于波兰其他地区。三个 BRCA1 突变（c.5266dupC、c.181 T > G、c.676delT）的测试应被视为敏感测试组。1 名患者发生 676delT 突变。10 例遗传性卵巢癌的中位诊断年龄为 55.5 岁。结论 Podkarpacie 的 13 种致病创始人变异的频率低于波兰其他地区。三个 BRCA1 突变（c.5266dupC、c.181 T > G、c.676delT）的测试应被视为敏感测试组。1 名患者发生 676delT 突变。10 例遗传性卵巢癌的中位诊断年龄为 55.5 岁。结论 Podkarpacie 的 13 种致病创始人变异的频率低于波兰其他地区。三个 BRCA1 突变（c.5266dupC、c.181 T > G、c.676delT）的测试应被视为敏感测试组。