Realizing the promise of cancer predisposition genes

被引：456

作者：

Rahman, Nazneen ^{[1
,2
]}

机构：

[1] Inst Canc Res, Div Genet & Epidemiol, London SW2 5NG, England

[2] Royal Marsden Hosp Fdn Trust, Canc Genet Unit, London SM2 5PT, England

来源：

NATURE | 2014年 / 505卷 / 7483期

关键词：

GENOME-WIDE ASSOCIATION; OF-FUNCTION MUTATIONS; BREAST-CANCER; GERMLINE MUTATIONS; OVARIAN-CANCER; WILMS-TUMOR; SUSCEPTIBILITY; BRCA2; PENETRANCE; RISK;

D O I：

10.1038/nature12981

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Genes in which germline mutations confer highly or moderately increased risks of cancer are called cancer predisposition genes. More than 100 of these genes have been identified, providing important scientific insights in many areas, particularly the mechanisms of cancer causation. Moreover, clinical utilization of cancer predisposition genes has had a substantial impact on diagnosis, optimized management and prevention of cancer. The recent transformative advances in DNA sequencing hold the promise of many more cancer predisposition gene discoveries, and greater and broader clinical applications. However, there is also considerable potential for incorrect inferences and inappropriate clinical applications. Realizing the promise of cancer predisposition genes for science and medicine will thus require careful navigation.

引用

页码：302 / 308

页数：7

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