Roy Abhishikta Ghosh, Sarkar Bn, Roy Rakesh, Rao Vr, Bandyopadhyay Ar
Anthropological Survey of India, India.
Asian Pac J Cancer Prev. 2012;13(9):4477-9. doi: 10.7314/apjcp.2012.13.9.4477.
The high incidence and relatively good prognosis of breast cancer has made it the most prevalent cancer in the world today. A large number of distinct mutations and polymorphisms in the p53 gene have been reported worldwide, but there is no report regarding the role of this inherited susceptibility gene in breast cancer risk among the Bengalee Hindu Caste females of West Bengal, India.
We investigated the distribution and the nature of p53 gene mutations and polymorphisms in exons 5-7 in a cohort of 110 Bengalee Hindu breast cancer patients and 127 age, sex and caste matched controls by direct sequencing.
We did not observe any mutations and polymorphisms in our studied individuals.
We therefore conclude that mutations in exons 5-7 of p53 gene are rare causes of breast cancer among Bengalee Hindu caste females, and therefore of little help for genetic counseling and diagnostic purposes.
乳腺癌的高发病率及相对较好的预后使其成为当今世界最常见的癌症。全球已报道了大量p53基因的不同突变和多态性，但在印度西孟加拉邦的孟加拉印度教种姓女性中，关于这种遗传性易感基因在乳腺癌风险中的作用尚无报道。
我们通过直接测序，调查了110名孟加拉印度教乳腺癌患者及127名年龄、性别和种姓匹配的对照人群中p53基因第5至7外显子的突变和多态性分布及性质。
我们在所研究的个体中未观察到任何突变和多态性。
因此我们得出结论，p53基因第5至7外显子的突变在孟加拉印度教种姓女性中是乳腺癌的罕见病因，因此对遗传咨询和诊断用途帮助不大。
