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PMID: 22693372 已发表 · ppublish 英语

BRCA1 and BRCA1 Genes and Inherited Breast and/or Ovarian Cancer: Benefits of Genetic Testing.

Indian journal of surgical oncology ·第 1 卷 ·第 3 期 ·2012-08-23

Somasundaram Kumaravel

摘要

The breast cancer associated genes BRCA1 and BRCA2 were discovered in 1994 and 1995 respectively. Since then in addition to our understanding how these proteins function in particular reference to DNA repair, enormous amount of knowledge has been gained regarding genetic epidemiology of inherited breast and ovarian cancer, mutation prevalence among different ethnic groups, presence of founder mutations, varying penetrance, genetic testing and potential management options of mutation carriers. This review will focus on the status of understanding of the role of BRCA1 and BRAC2 mutations among Indian women, structure and biology of these two genes, different methods used for mutation detection and different management options available for BRCA1 and BRCA2 mutation carriers.

关键词
BRCA1 BRCA2 Familial breast and/or ovarian cancer Inherited breast cancer
文献信息
期刊
Indian journal of surgical oncology
期刊简称
Indian J Surg Oncol
ISSN
0976-6952
发表日期
2012-08-23
收录日期
2012-06-13
更新日期
2013-05-29
语言
英语
国家/地区
India
NLM ID
101532448
外部链接
PubMed 原文
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