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

  Utökad sökning

Träfflista för sökning "WFRF:(Rantala J) "

Sökning: WFRF:(Rantala J)

  • Resultat 11-20 av 100
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
11.
  •  
12.
  •  
13.
  •  
14.
  • Barnes, DR, et al. (författare)
  • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
  • 2022
  • Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 114:1, s. 109-122
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.Methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.ResultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.ConclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
  •  
15.
  •  
16.
  •  
17.
  •  
18.
  •  
19.
  •  
20.
  • 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.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 11-20 av 100
Typ av publikation
tidskriftsartikel (92)
konferensbidrag (7)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (94)
övrigt vetenskapligt/konstnärligt (6)
Författare/redaktör
Rantala, J. (49)
Chenevix-Trench, G (34)
Hamann, U (33)
Nevanlinna, H (33)
Antoniou, AC (33)
McGuffog, L. (33)
visa fler...
Peterlongo, P (32)
Andrulis, IL (32)
Radice, P (32)
Thomassen, M. (32)
Neuhausen, SL (32)
Easton, DF (31)
Schmutzler, RK (31)
Offit, K. (31)
Montagna, M. (31)
Godwin, AK (31)
Simard, J (30)
Jakubowska, A (30)
Singer, CF (30)
Wappenschmidt, B. (29)
Engel, C. (29)
Toland, AE (28)
Tischkowitz, M (28)
Friedman, E. (27)
Benitez, J. (27)
Couch, FJ (27)
Meindl, A (27)
John, EM (27)
Goldgar, DE (27)
Stoppa-Lyonnet, D. (27)
Barrowdale, D (27)
Karlan, BY (27)
Greene, MH (27)
Domchek, SM (27)
Manoukian, S (26)
Osorio, A. (26)
Frost, D. (26)
Teixeira, MR (25)
Olah, E (25)
Glendon, G (24)
Buys, SS (24)
Caldes, T. (24)
Caligo, MA (24)
Diez, O (24)
Lubinski, J (23)
Aittomaki, K (23)
Evans, DG (23)
Arnold, N. (23)
Claes, KBM (23)
Hahnen, E (23)
visa färre...
Lärosäte
Karolinska Institutet (71)
Lunds universitet (44)
Uppsala universitet (26)
Kungliga Tekniska Högskolan (10)
Linköpings universitet (6)
Umeå universitet (5)
visa fler...
Stockholms universitet (5)
Göteborgs universitet (4)
Chalmers tekniska högskola (3)
Örebro universitet (2)
Jönköping University (2)
Högskolan i Halmstad (1)
Linnéuniversitetet (1)
visa färre...
Språk
Engelska (100)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (50)
Naturvetenskap (12)
Teknik (7)

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