Department of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute (NCRI), 16A Park Lane, Kolkata, 700016, India.
Fam Cancer. 2013 Sep;12(3):489-95. doi: 10.1007/s10689-012-9590-y.
The incidence of breast cancer in India is on the rise and is rapidly becoming the number one cancer in females pushing the cervical cancer to the second position. The mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, are frequently associated with familial breast cancer. The main objective of the study was to determine the frequency of the mutation 5382insC in BRCA1 of eastern Indian breast cancer patients and also study the hormonal receptor status and histopathology of the patients. Altogether 92 patients affected with breast cancer were included in this study. ARMS-PCR based amplification was used to detect the presence of mutation. The mutations were considered only after pedigree analysis. Out of 92 patients (age range: 20-77 years) with family history (57 individuals) and without family history (35 individuals) were screened. Fifty controls have been systematically investigated. Seven patients and two family members were found to be carriers of 5382insC mutation in BRCA1 gene. We have found 42.64 % ER(-)/PR(-) cancer and 20.58 % triple negative cancer. Invasive ductal carcinoma is the most common histology among the investigated individuals. The presented data confirm a noticeable contribution of BRCA1 5382insC mutation in BC development in Eastern India, which may justify an extended BRCA1 5382insC testing within this patient population. We found HER-2/neu negativity and BRCA1 positivity associated with familial breast cancer. From the hospital's patient history, it was revealed that the age of menarche plays an important role in development of breast cancer.
印度乳腺癌的发病率呈上升趋势,迅速成为女性中最常见的癌症,将宫颈癌推至第二位。两种乳腺癌易感性基因 BRCA1 和 BRCA2 的突变与家族性乳腺癌密切相关。该研究的主要目的是确定东方印度乳腺癌患者 BRCA1 中突变 5382insC 的频率,并研究患者的激素受体状态和组织病理学。共有 92 名患有乳腺癌的患者纳入本研究。采用 ARMS-PCR 扩增法检测突变的存在。只有在进行家系分析后才考虑突变。在有家族史(57 人)和无家族史(35 人)的 92 名患者(年龄范围:20-77 岁)中进行筛选。系统地调查了 50 名对照者。在 7 名患者和 2 名家庭成员中发现 BRCA1 基因存在 5382insC 突变。我们发现 42.64%的 ER(-)/PR(-)癌症和 20.58%的三阴性癌症。浸润性导管癌是调查个体中最常见的组织学类型。所提供的数据证实了 BRCA1 5382insC 突变在印度东部乳腺癌发展中的显著作用,这可能证明在该患者群体中进行扩展的 BRCA1 5382insC 检测是合理的。我们发现 HER-2/neu 阴性和 BRCA1 阳性与家族性乳腺癌有关。从医院的患者病史来看,初潮年龄在乳腺癌的发展中起着重要作用。