SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Wang Sophie R) ;pers:(Evans D. Gareth)"

Sökning: WFRF:(Wang Sophie R) > Evans D. Gareth

  • Resultat 1-3 av 3
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Lawrenson, Kate, et al. (författare)
  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
  • 2016
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • 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.
  •  
2.
  • Kirchhoff, Tomas, et al. (författare)
  • Breast cancer risk and 6q22.33 : combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
  • 2012
  • Ingår i: PLOS ONE. - : Public library of science. - 1932-6203. ; 7:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
  •  
3.
  • Walker, Logan C, et al. (författare)
  • Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
  • 2010
  • Ingår i: Breast cancer research : BCR. - : Springer Science and Business Media LLC. - 1465-542X .- 1465-5411. ; 12:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide association studies. In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-3 av 3
Typ av publikation
tidskriftsartikel (3)
Typ av innehåll
refereegranskat (3)
Författare/redaktör
Nevanlinna, Heli (3)
Chenevix-Trench, Geo ... (3)
Devilee, Peter (3)
Evans, D. Gareth (3)Ta bort avgränsningen
Meindl, Alfons (3)
Couch, Fergus J. (3)
visa fler...
Easton, Douglas F. (3)
Antoniou, Antonis C. (3)
McGuffog, Lesley (3)
Healey, Sue (3)
Frost, Debra (3)
Domchek, Susan M. (3)
Nathanson, Katherine ... (3)
Chang-Claude, Jenny (2)
Giles, Graham G (2)
Milne, Roger L. (2)
Dunning, Alison M. (2)
Andrulis, Irene L. (2)
Benitez, Javier (2)
Bojesen, Stig E. (2)
Brauch, Hiltrud (2)
Burwinkel, Barbara (2)
Cox, Angela (2)
Hamann, Ute (2)
Hooning, Maartje J. (2)
Hopper, John L. (2)
Lambrechts, Diether (2)
Lindblom, Annika (2)
Mannermaa, Arto (2)
Margolin, Sara (2)
Offit, Kenneth (2)
Schmutzler, Rita K. (2)
Southey, Melissa C. (2)
Schmidt, Marjanka K. (2)
Flyger, Henrik (2)
Melin, Beatrice (2)
Agnarsson, Bjarni A. (2)
Wang, Xianshu (2)
Sinilnikova, Olga M. (2)
Peock, Susan (2)
Cook, Margaret (2)
Eccles, Diana (2)
Chu, Carol (2)
Stoppa-Lyonnet, Domi ... (2)
Mazoyer, Sylvie (2)
Giraud, Sophie (2)
Hogervorst, Frans B. ... (2)
Spurdle, Amanda B. (2)
Engel, Christoph (2)
Singer, Christian F. (2)
visa färre...
Lärosäte
Lunds universitet (3)
Karolinska Institutet (3)
Umeå universitet (2)
Linköpings universitet (2)
Göteborgs universitet (1)
Uppsala universitet (1)
Språk
Engelska (3)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (3)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy