From candidate gene studies to GWAS and post-GWAS analyses in breast cancer

被引：72

作者：

Fachal, Laura ^{[1
,2
]}

Dunning, Alison M. ^{[1
]}

机构：

[1] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge CB1 8RN, England

[2] Univ Santiago de Compostela, CIBERER, Genom Med Grp, Santiago De Compostela 15706, Spain

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2015年 / 30卷

关键词：

GENOME-WIDE ASSOCIATION; MAMMARY-GLAND DEVELOPMENT; SUSCEPTIBILITY LOCI; CONFER SUSCEPTIBILITY; COMMON VARIANTS; OVARIAN-CANCER; RISK VARIANT; IDENTIFIES; MUTATIONS; ALLELES;

D O I：

10.1016/j.gde.2015.01.004

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

There are now more than 90 established breast cancer risk loci, with 57 new ones, revealed through genome-wide-association studies (GWAS) during the last two years. Established high, moderate and low penetrance genetic variants currently explain similar to 49% of familial breast cancer risk. GWAS-discovered variants account for 14%, and it is estimated that another 1000 yet-to-be-discovered loci could contribute an additional 14% of familial risk. Polygenic risk scores can already be used to stratify breast cancer risk in the female population and could improve the targeting of mammographic screening programmes, which are at present largely based on age-specific risks. Fine-scale mapping and functional analyses are revealing candidate causal variants and the molecular mechanisms by which GWAS-hits may act. Better-powered GWAS and genome-wide sequencing projects are likely to continue identifying new breast cancer causal variants.

引用

页码：32 / 41

页数：10

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