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Genome-wide association study identifies novel breast cancer susceptibility loci
TLDR
To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation. Expand
IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer.
TLDR
Examination of association of SNPs in the IGF1 and IGFBP3 genes with circulating levels of their gene products in a population-based study of 600 middle-aged men and women and in a breast cancer case-control study suggests that higher IGF1 levels may increase the risk of breast cancer but higher IGF BP3 levels may be protective. Expand
A common coding variant in CASP8 is associated with breast cancer risk
TLDR
It is demonstrated that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies, as well as the need for further studies to confirm putative genetic associations with breast cancer. Expand
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
TLDR
Strong evidence is found for additional susceptibility loci on 3p and 17q and potential causative genes include SLC4A7 and NEK10 on3p and COX11 on 17q. Expand
Multiple loci with different cancer specificities within the 8q24 gene desert.
TLDR
It is concluded that there are at least five separate functional variants in this region that are associated with the risk of prostate, colorectal, and ovarian cancer, but not breast cancer. Expand
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics
TLDR
The findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct. Expand
POT1 loss-of-function variants predispose to familial melanoma
TLDR
It is shown that POT1 variants predispose to melanoma formation via a direct effect on telomeres, disrupting protein-telomere binding and leading to increased telomere length. Expand
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
TLDR
Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks. Expand
Telomere length in prospective and retrospective cancer case-control studies.
TLDR
Mean telomere length was shorter in retrospectively collected cases than in controls but the equivalent association was markedly weaker in the prospective studies, suggesting that telomeres shortening largely occurs after diagnosis, and therefore, might not be of value in cancer prediction. Expand
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
TLDR
Analysis of 4,405 variants in 89,050 European subjects from 41 case-control studies identified three independent association signals for estrogen-receptor-positive tumors at 11q13, and Chromatin conformation studies demonstrate that these enhancer and silencer elements interact with each other and with their likely target gene, CCND1. Expand
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