El Tannouri R, Albuisson E, Jonveaux P, Luporsi E
INSERM U954, University of Lorraine, Vandœuvre-lès-Nancy, France.
IECL CNRS, UMR 7502, BIOBASE, Pôle S2R, CHRU Nancy, InSciDens, Vandœuvre-lès-Nancy, France.
Fam Cancer. 2019 Jan;18(1):1-8. doi: 10.1007/s10689-018-0079-1.
Tumor characteristics are used today to evaluate the possibility of mutation and to target mutation screening in families with high risk of breast and/or ovarian cancer. We studied the breast tumor profile associated to the c.3481_3491del11 French founder effect mutation on the BRCA1 gene to an attempt to identify any particularity or difference when comparing it to that related to other BRCA1 mutations. Within the population who were referred to our oncogenetic clinic at the Lorraine Oncology Institute in France and who underwent genetic testing between 1994 and 2012, we identified 404 women carrying a BRCA1 mutation. Interestingly, 45% (180/404) women had the germline c.3481_3491del11 mutation. These included 91 patients affected by first breast cancer. Clinical and pathologic data were retrieved from medical files. Descriptive statistics were conducted using the SPSS software (version 20.0). For the entire cohort of 91 women, the mean age was 43.64 years (SD 10.04). Tumors were identified in 37.4% of cases aged < 40 years. Estrogen receptor status and progesterone receptor status were reported to 67 patients. Seventy-four percent were ER negative. Hormonal receptors status was negative in 68.6% of tumors. HER2 status was available for 32 tumors. The triple-negative subtype was found in 21 cases, which accounts for 65.6% of the patients. High tumor grade was found in 81% of triple negative breast cancer patients. Based on our results compared to those of previous international studies, we concluded that the breast cancer associated to the c.3481_3491del11 is not different from that associated to other BRCA1 mutations. A larger cohort with complete information on the breast cancer pathologic characteristics and including other BRCA1 mutations would allow us to statistically compare the breast tumor profile associated to the c.3481_3491del11 to that related to other BRCA1 mutations.
如今，肿瘤特征被用于评估突变的可能性，并针对乳腺癌和/或卵巢癌高风险家族进行突变筛查。我们研究了与BRCA1基因上c.3481_3491del11法国始祖效应突变相关的乳腺肿瘤特征，试图找出将其与其他BRCA1突变相关特征进行比较时的任何特殊性或差异。在法国洛林肿瘤研究所我们的肿瘤遗传学诊所就诊并于1994年至2012年间接受基因检测的人群中，我们确定了404名携带BRCA1突变的女性。有趣的是，45%（180/404）的女性携带种系c.3481_3491del11突变。其中包括91名首次患乳腺癌的患者。临床和病理数据从医疗档案中获取。使用SPSS软件（版本20.0）进行描述性统计。在91名女性的整个队列中，平均年龄为43.64岁（标准差10.04）。在37.4%年龄<40岁的病例中发现了肿瘤。向67名患者报告了雌激素受体状态和孕激素受体状态。74%为雌激素受体阴性。68.6%的肿瘤激素受体状态为阴性。32个肿瘤的HER2状态可用。三阴性亚型在21例中发现，占患者的65.6%。81%的三阴性乳腺癌患者肿瘤分级高。基于我们的结果与先前国际研究结果的比较，我们得出结论，与c.3481_3491del11相关的乳腺癌与其他BRCA1突变相关的乳腺癌没有差异。一个拥有关于乳腺癌病理特征的完整信息且包括其他BRCA1突变的更大队列将使我们能够从统计学上比较与c.3481_3491del11相关的乳腺肿瘤特征与其他BRCA1突变相关的特征。
