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Article
Fine-map** of 150 breast cancer risk regions identifies 191 likely target genes
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining asso...
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Article
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants an...
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Article
Five endometrial cancer risk loci identified through genome-wide association analysis
Amanda Spurdle, Ian Tomlinson, Douglas Easton and colleagues conduct a GWAS meta-analysis and identify five new risk loci for endometrial cancer. Functional studies show that one risk-associated SNP is located...
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Article
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
Alison Dunning, Stacey Edwards and colleagues analyze 3,872 common variants across the ESR1 locus in 118,816 women. They find five independent variants within regulatory regions that associate with different brea...
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Article
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Doug Easton and colleagues report the results of a large-scale genome-wide association study of breast cancer. They discover 15 new susceptibility loci and highlight likely target genes in several of the newly...
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Article
Open AccessCandidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported w...
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Article
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations ...
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Article
Genome-wide association study identifies a common variant associated with risk of endometrial cancer
Amanda Spurdle and colleagues report results of a genome-wide association study of endometrial cancer. They identify a risk variant near HNF1B that has previously been associated with increased risk of prostate c...
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Article
Genome-wide association study identifies five new breast cancer susceptibility loci
Douglas Easton and colleagues report a genome-wide association study for breast cancer, identifying five new susceptibility loci.
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Article
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
Douglas Easton and colleagues report results of a large multistage genome-wide association study of breast cancer. The study identifies two new breast cancer risk loci on chromosomes 3p24 and 17q23.2.
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Article
Open AccessCommon variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk
Certain rare, familial mutations in the ATM, BRCA1, BRCA2, CHEK2 or TP53 genes increase susceptibility to breast cancer but it has not, until now, been clear whether common polymorphic variants in the same genes ...
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Article
Red clover-derived isoflavones and mammographic breast density: a double-blind, randomized, placebo-controlled trial [ISRCTN42940165]
Isoflavones are hypothesized to protect against breast cancer, but it is not clear whether they act as oestrogens or anti-oestrogens in breast tissue. Our aim was to determine the effects of taking a red clove...
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Article
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability
Inherited mutations in the gene BRCA2 predispose carriers to early onset breast cancer, but such mutations account for fewer than 2% of all cases in East Anglia. It is likely that low penetrance alleles explain t...
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Article
A polymorphic stop codon in BRCA2
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Article
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto–oncogene. These included cases of multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and f...