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Association analysis identifies 65 new breast cancer risk loci.
(2017-11)
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. ...
Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.
(2016-08)
A case-control study from two randomised breast cancer prevention trials of tamoxifen and raloxifene (P-1 and P-2) identified single-nucleotide polymorphisms (SNPs) in or near genes ZNF423 and CTSO as factors which predict ...
Gene-environment dependence creates spurious gene-environment interaction.
(CELL PRESS, 2014-09-04)
Gene-environment interactions have the potential to shed light on biological processes leading to disease and to improve the accuracy of epidemiological risk models. However, relatively few such interactions have yet been ...
RAD51B in Familial Breast Cancer.
(PUBLIC LIBRARY SCIENCE, 2016-05-05)
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ...
Candidate gene-environment interactions in breast cancer.
(BIOMED CENTRAL LTD, 2014-10-17)
Gene-environment interactions have the potential to shed light on biological processes leading to disease, identify individuals for whom risk factors are most relevant, and improve the accuracy of epidemiological risk ...
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
(NATURE PUBLISHING GROUP, 2015-01-22)
Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly ...
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
(NATURE PORTFOLIO, 2016-04-27)
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ...
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
(NATURE PUBLISHING GROUP, 2016-04-01)
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ...
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
(2018-09-13)
Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ...
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.
(COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-11-01)
Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human ...