Martin Claudia Alejandra, Suárez Villasmil Lourdes, Sembaj Adela, Gomez Balangione Fabian, Zunino Silvia, Montes Cecilia Del Carmen, Borello Adriana, Del Castillo Andres, Zeballos Maximiliano, Rossi Norma Teresa
Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Programa de Fortalecimiento Institucional (PROFOIN). Córdoba, Argentina..
nstituto Privado de Radioterapia, Fundación Marie Curie, Córdoba, Argentina.
Rev Fac Cien Med Univ Nac Cordoba. 2022 Sep 16;79(3):228-234. doi: 10.31053/1853.0605.v79.n3.34533.
Hereditary predisposition syndromes to cancer represent 5-10% of cancer cases, the most studied being HBOC produced by mutations in the BRCA1/2 genes.
To describe clinical, histopathological and PV characteristics in patients with HBOC in Córdoba, Argentina and compare it with those without BRCA1/2 mutations.
Cross-sectional, correlational and observational analysis of patients from Córdoba. The ANOVA, Student's t test contingency tables and Fisher exact test were used the significance level was α = 0.05.
155 women with BC, OC and BC/OC were studied. 40 BRCA1 / 2 mutations were identified. No differences were found in the age of diagnosis between patients with and without BRCA1/2 mutations. A significant association was found between VP in BRCA1/2 and the type of cancer (p = 0.003); all cases with BC/OC presented mutations in BRCA1/2. No significant association was found between mutated/non-mutated and personal history, family background, and ER-PR-HER2. 23.1% and 38.1% of BC cases were TN in individuals with VP in BRCA 1 and 2, respectively. The prevalence of mutations was 25.8% and the prevalence of novel PV was 10.0%.
Patients with BC-VP BRCA1/2 are associated with ductal histology, and younger age of presentation with VP BRCA1. We did not find significant differences in the age at diagnosis of BC between patients with BRCA1 and BRCA2 mutations, a higher proportion of BC TN is observed than in the general population. In our sample, the prevalence of BRCA1/2 mutations among patients who meet criteria for HBOC is 25.8%, with 10% new pathogenic variant.
遗传性癌症易感性综合征占癌症病例的5 - 10%，其中研究最多的是由BRCA1/2基因突变引起的遗传性乳腺癌和卵巢癌综合征（HBOC）。
描述阿根廷科尔多瓦HBOC患者的临床、组织病理学和胚系变异（PV）特征，并与无BRCA1/2基因突变的患者进行比较。
对科尔多瓦的患者进行横断面、相关性和观察性分析。使用方差分析、学生t检验列联表和费舍尔精确检验，显著性水平为α = 0.05。
研究了155例患有乳腺癌（BC）、卵巢癌（OC）以及乳腺癌合并卵巢癌（BC/OC）的女性。鉴定出40个BRCA1 / 2基因突变。有和无BRCA1/2基因突变的患者在诊断年龄上未发现差异。发现BRCA1/2中的胚系变异与癌症类型之间存在显著关联（p = 0.003）；所有BC/OC病例均存在BRCA1/2基因突变。在突变/未突变与个人病史、家族背景以及雌激素受体（ER）-孕激素受体（PR）-人表皮生长因子受体2（HER2）之间未发现显著关联。在BRCA 1和2中存在胚系变异的个体中，分别有23.1%和38.1%的乳腺癌病例为三阴性（TN）。突变患病率为25.8%，新型胚系变异患病率为10.0%。
携带BRCA1/2胚系变异的乳腺癌患者与导管组织学相关，且携带BRCA1胚系变异的患者发病年龄较轻。我们未发现BRCA1和BRCA2基因突变患者在乳腺癌诊断年龄上有显著差异，观察到三阴性乳腺癌的比例高于一般人群。在我们的样本中，符合HBOC标准的患者中BRCA1/2基因突变的患病率为25.8%，其中10%为新的致病变异。
