Schayek Hagit, De Marco Luiz, Starinsky-Elbaz Sigal, Rossette Mariana, Laitman Yael, Bastos-Rodrigues Luciana, da Silva Filho Agnaldo Lopes, Friedman Eitan
Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte 30130-100, Brazil.
Cancer Genet. 2016 Jan-Feb;209(1-2):50-2. doi: 10.1016/j.cancergen.2015.11.003. Epub 2015 Dec 1.
In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil.
在巴西，高危乳腺癌病例中已报告BRCA1和BRCA2有几种反复出现的突变以及一种TP53突变（R337H）。我们推测，在米纳斯吉拉斯州的普通人群和卵巢癌病例中也可能检测到这些反复出现的突变。为了验证这一观点，我们从巴西米纳斯吉拉斯州贝洛奥里藏特市联邦米纳斯吉拉斯大学医学中心的门诊和妇科诊所招募了参与者。使用经过验证的技术对BRCA1（c.68_69delAG、c.5266dupC、c.181T>G、c.4034delA、c.5123C>A）、BRCA2（c.5946delT、c.8537_8538delAG、4936_4939delGAAA）、c.156_157insAlu* BRCA2和c.1010G>A *TP53突变进行基因分型。总体而言，研究了513名无癌参与者（273名男性）（平均年龄47.7±15.1岁）和103例卵巢癌病例（诊断时平均年龄58.7±9.6岁）。未发现任何参与者携带任何一种基因分型突变。我们得出结论，在巴西这个地理区域的普通人群或连续的卵巢癌病例中，无法检测到BRCA1、BRCA2和TP53的反复出现的突变。
