| 1. |
- Couch, Fergus J., et al.
(författare)
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
- 2016
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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| 2. |
- Hardell, Lennart, et al.
(författare)
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Epidemiological studies on cancer and exposure to dioxins and related compounds.
- 2003. - 2
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Ingår i: Dioxins and health. - Linköping : Linköpings universitet. - 0471433551 - 9780471433552 ; , s. 729-764
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Now in its third edition, Dioxins and Healthis the most respected reference of its kind, presenting the latest scientific findings on dioxins, dibenzofurans, polychlorinated biphenyls and related compounds, and their impact on human health. The book fully examines the many toxicological effects—including immunological, neurological, developmental, dermatological, and cardiological—these chemicals have on health.This Third Editionhas been greatly expanded with the latest research findings on dioxins and related compounds. Moreover, it now includes coverage of other persistent organic pollutants (POPs) and endocrine disruptors, including:Brominated flame retardants, such as polybrominated diphenyl ethers and hexabromocyclododecanePerfluorinated chemicals such as perfluorooctanoic acid and perfluorooctanesulfonic acidOther endocrine disrupting chemicals similar to POPs such as bisphenol AReaders will also learn about the latest findings on the long-term impacts caused by the use of Agent Orange in Vietnam. Other chapters review the Seveso disaster in Italy and the Yusho and Yucheng rice oil poisoning incidents in Japan and Taiwan. In addition, there is a full chapter dedicated to the dioxin poisoning of former Ukraine President Victor Yushchenko.All the chapters in the book have been written by leading international experts. References at the end of each chapter guide readers to the primary literature in the field.Expertly organized in one volume, Dioxins and Health offers readers quick access to essential information about dioxins and related compounds written in clear, simple language that is accessible to not only scientists, clinicians and public health professionals, but also general readers.
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| 3. |
- Lawrenson, Kate, et al.
(författare)
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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