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Träfflista för sökning "WFRF:(Tyrer JP) ;pers:(Tomlinson I);pers:(Pharoah PDP)"

Search: WFRF:(Tyrer JP) > Tomlinson I > Pharoah PDP

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1.	Bojesen, SE, et al. (author) Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer 2013 In: Nature genetics. - New york : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:4, s. 371-384 Journal article (peer-reviewed)
2.	Carvajal-Carmona, LG, et al. (author) Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk 2015 In: Human genetics. - : Springer Science and Business Media LLC. - 1432-1203 .- 0340-6717. ; 134:2, s. 231-245 Journal article (peer-reviewed)
3.	Cheng, THT, et al. (author) Five endometrial cancer risk loci identified through genome-wide association analysis 2016 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 48:6, s. 667- Journal article (peer-reviewed)
4.	Dennis, J, et al. (author) Rare germline copy number variants (CNVs) and breast cancer risk 2022 In: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 65- Journal article (peer-reviewed)abstract Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E−18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.
5.	Fachal, L, et al. (author) Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes 2020 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 52:1, s. 56-73 Journal article (peer-reviewed)
6.	Mavaddat, N, et al. (author) Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:1, s. 21-34 Journal article (peer-reviewed)
7.	O'Mara, TA, et al. (author) Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer 2015 In: Endocrine-related cancer. - 1479-6821. ; 22:5, s. 851-861 Journal article (peer-reviewed)
8.	O'Mara, TA, et al. (author) Identification of nine new susceptibility loci for endometrial cancer 2018 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 3166- Journal article (peer-reviewed)abstract Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study.
9.	Painter, JN, et al. (author) Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk 2015 In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:5, s. 1478-1492 Journal article (peer-reviewed)
10.	Painter, JN, et al. (author) Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses 2018 In: Cancer medicine. - : Wiley. - 2045-7634. ; 7:5, s. 1978-1987 Journal article (peer-reviewed)

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Result 1-10 of 12

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Type of publication: journal article (12)

Type of content: peer-reviewed (12)

Author/Editor: Brenner, H (12); Dennis, J (12); Hall, P (12); Czene, K (12); Michailidou, K (12); Bolla, MK (12); show more...; Tomlinson, I (12); Hopper, JL (12); Dunning, AM (12); Fasching, PA (12); Cox, A (12); Couch, FJ (12); Lambrechts, D (12); Chang-Claude, J (12); Easton, DF (12); Pharoah, PDP (12); Tyrer, JP (12); Wang, Q. (11); Lindblom, A (11); Giles, GG (11); Brauch, H (11); Shah, M (11); Beckmann, MW (11); Burwinkel, B (11); Dork, T (11); Swerdlow, AJ (11); Hillemanns, P (11); Kristensen, VN (11); Peto, J (10); Spurdle, AB (10); Meindl, A (10); Scott, RJ (10); Ekici, AB (9); Healey, CS (9); Goode, EL (9); Thompson, DJ (9); Hein, A (9); Martin, L (8); Mints, M (8); Amant, F (8); Tham, E. (8); Gorman, M (8); Fridley, BL (8); Durst, M (8); Runnebaum, I (8); Trovik, J (8); O'Mara, TA (8); Dowdy, SC (8); Werner, HMJ (8); Otton, G (8); show less...

University: Karolinska Institutet (12); Lund University (5); Uppsala University (4); Umeå University (1)

Language: English (12)

Research subject (UKÄ/SCB): Medical and Health Sciences (5)

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