SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Jakubowska Anna) "

Sökning: WFRF:(Jakubowska Anna)

  • Resultat 31-32 av 32
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
31.
  • Vigorito, Elena, et al. (författare)
  • Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
  • 2016
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 11:7
  • Tidskriftsartikel (refereegranskat)abstract
    • Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95% CI: 0.68 to 0.79, p-value 2x 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95% CI: 0.59 to 0.80, p-value 1.0 x 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
  •  
32.
  • Zanti, Maria, et al. (författare)
  • A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants : Application to BRCA1 and BRCA2
  • 2023
  • Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 2023
  • Tidskriftsartikel (refereegranskat)abstract
    • A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analysis of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC) and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity-findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared with classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and preformatted Excel calculators for implementation of the method for rare variants in BRCA1, BRCA2, and other high-risk genes with known penetrance.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 31-32 av 32
Typ av publikation
tidskriftsartikel (32)
Typ av innehåll
refereegranskat (32)
Författare/redaktör
Jakubowska, Anna (28)
Easton, Douglas F. (26)
Simard, Jacques (25)
Nevanlinna, Heli (24)
Couch, Fergus J. (24)
Hamann, Ute (23)
visa fler...
Andrulis, Irene L. (22)
John, Esther M (21)
Benitez, Javier (21)
Chenevix-Trench, Geo ... (21)
Daly, Mary B. (21)
Radice, Paolo (21)
Neuhausen, Susan L (20)
Offit, Kenneth (20)
Devilee, Peter (19)
Meindl, Alfons (19)
Schmutzler, Rita K. (19)
Antoniou, Antonis C. (18)
Terry, Mary Beth (17)
Evans, D. Gareth (16)
Fasching, Peter A. (16)
Hopper, John L. (16)
Frost, Debra (16)
Stoppa-Lyonnet, Domi ... (16)
Chang-Claude, Jenny (15)
Rennert, Gad (15)
Milne, Roger L. (15)
Buys, Saundra S. (15)
Pharoah, Paul D. P. (15)
Thomassen, Mads (15)
McGuffog, Lesley (15)
Brenner, Hermann (14)
Anton-Culver, Hoda (14)
Bonanni, Bernardo (14)
Lambrechts, Diether (14)
Haiman, Christopher ... (13)
Giles, Graham G (13)
Arndt, Volker (13)
Bolla, Manjeet K. (13)
Dunning, Alison M. (13)
Bojesen, Stig E. (13)
Czene, Kamila (13)
Guenel, Pascal (13)
Hall, Per (13)
Mannermaa, Arto (13)
Margolin, Sara (13)
Zheng, Wei (13)
Schmidt, Marjanka K. (13)
Garcia-Closas, Monts ... (13)
Mazoyer, Sylvie (13)
visa färre...
Lärosäte
Lunds universitet (26)
Karolinska Institutet (24)
Uppsala universitet (19)
Umeå universitet (5)
Göteborgs universitet (3)
Linköpings universitet (3)
Språk
Engelska (32)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (30)
Naturvetenskap (4)

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