Chakraborty Abhijit, Banerjee Debolina, Basak Jayasri, Mukhopadhyay Ashis
Dept. of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute, Kolkata, India E-mail :
Asian Pac J Cancer Prev. 2015;16(17):7929-33. doi: 10.7314/apjcp.2015.16.17.7929.
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. Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2. Alterations in these genes have been reported in different populations, some of which are population- specific mutations showing founder effects. Two specific mutations in the BRCA1 (185delAG) and BRCA2 (6174delT) genes have been reported to be of high prevalence in different populations. The aim of this study was to estimate the carrier frequency of 185delAG and 6174delT mutations in eastern Indian breast cancer patients.
We selected 231 histologically confirmed breast cancer patients from our tertiary cancer care center in eastern India. Family history was obtained by interview or a self-reported questionnaire. The presence of the mutation was investigated by allele specific duplex/multiplex-PCR on genomic DNA extracted from peripheral blood.
A total of 231 patients (age range: 26-77 years), 130 with a family history and 101 without were screened. The two founder mutations 185delAG in BRCA1 and 6174delT in BRCA2 were not found in any of the subjects. This was confirmed by molecular analysis.
Our findings suggest that these BRCA mutations may not have a strong recurrent effect on breast cancer among the eastern Indian population. The contribution of these founder mutations to breast cancer incidence is probably low and could be limited to specific subgroups. This may be particularly useful in establishing further pre-screening strategies.
印度乳腺癌的发病率呈上升趋势，迅速成为女性头号癌症，将宫颈癌挤至第二位。遗传性乳腺癌和卵巢癌的大多数易感性归因于两个肿瘤抑制基因BRCA1和BRCA2的遗传缺陷。不同人群中已报道了这些基因的改变，其中一些是显示奠基者效应的特定人群突变。据报道，BRCA1基因的两个特定突变（185delAG）和BRCA2基因的（6174delT）在不同人群中具有高患病率。本研究的目的是估计印度东部乳腺癌患者中185delAG和6174delT突变的携带者频率。
我们从印度东部的三级癌症护理中心选取了231例经组织学确诊的乳腺癌患者。通过访谈或自我报告问卷获取家族史。通过对从外周血提取的基因组DNA进行等位基因特异性双链/多重PCR来研究突变的存在。
共筛查了231例患者（年龄范围：26 - 77岁），其中130例有家族史，101例无家族史。在任何受试者中均未发现BRCA1基因的185delAG和BRCA2基因的6174delT这两个奠基者突变。分子分析证实了这一点。
我们的研究结果表明，这些BRCA突变可能对印度东部人群的乳腺癌没有强烈的复发影响。这些奠基者突变对乳腺癌发病率的贡献可能较低，可能仅限于特定亚组。这对于建立进一步的预筛查策略可能特别有用。
