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Functional evaluation of TERT-CLPTM1L genetic variants associated with susceptibility of papillary thyroid carcinoma

Nature
After genotyping 2300 PTC patients and frequency-matched 2300 unaffected controls, we found that TERT rs2736100 genetic variant is significantly associated...
104 months ago

Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status

Breast Cancer Research
We identified 230 genes in 86 loci that were associated with ER + BC and 66 genes in 29 loci that were associated with ER- BC at a Bonferroni threshold of...
9 months ago

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Nature
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8)...
104 months ago

Common breast cancer risk variants in the post-COGS era: a comprehensive review

Breast Cancer Research
This review will summarize the current understanding of common low penetrance susceptibility alleles that contribute to breast cancer risk.
132 months ago

Common variation and heritability estimates for breast, ovarian and prostate cancers

Nature
The studies from COGS included in this collection nearly double the number of common genetic variants significantly associated with susceptibility to breast,...
141 months ago

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Nature
Our results indicate that the association with chr5p15.33-Region 2 may be explained by rs36115365, a variant influencing TERT expression via ZNF148.
92 months ago

Capture Hi-C identifies putative target genes at 33 breast cancer risk loci

Nature
Genome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater...
82 months ago

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

Nature
Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of...
76 months ago

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

Nature
High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothesised that...
109 months ago

Functional annotation of susceptibility loci identified by COGS

Nature
It is likely that many of the cancer risk loci found by COGS influence gene regulation, as ~66% of confirmed susceptibility alleles lie within or near genes.
141 months ago