SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Dunning Alison M.) srt2:(2015-2019)"

Sökning: WFRF:(Dunning Alison M.) > (2015-2019)

  • Resultat 21-22 av 22
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
21.
  • Li, Jingmei, et al. (författare)
  • Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort
  • 2019
  • Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 144:5, s. 1195-1204
  • Tidskriftsartikel (refereegranskat)abstract
    • Breast cancer patients with BRCA1/2-driven tumors may benefit from targeted therapy. It is not clear whether current BRCA screening guidelines are effective at identifying these patients. The purpose of our study was to evaluate the prevalence of inherited BRCA1/2 pathogenic variants in a large, clinically representative breast cancer cohort and to estimate the proportion of BRCA1/2 carriers not detected by selectively screening individuals with the highest probability of being carriers according to current clinical guidelines. The study included 5,122 unselected Swedish breast cancer patients diagnosed from 2001 to 2008. Target sequence enrichment (48.48 Fluidigm Access Arrays) and sequencing were performed (Illumina Hi-Seq 2,500 instrument, v4 chemistry). Differences in patient and tumor characteristics of BRCA1/2 carriers who were already identified as part of clinical BRCA1/2 testing routines and additional BRCA1/2 carriers found by sequencing the entire study population were compared using logistic regression models. Ninety-two of 5,099 patients with valid variant calls were identified as BRCA1/2 carriers by screening all study participants (1.8%). Only 416 study participants (8.2%) were screened as part of clinical practice, but this identified 35 out of 92 carriers (38.0%). Clinically identified carriers were younger, less likely postmenopausal and more likely to be associated with familiar ovarian cancer compared to the additional carriers identified by screening all patients. More BRCA2 (34/42, 81.0%) than BRCA1 carriers (23/50, 46%) were missed by clinical screening. In conclusion, BRCA1/2 mutation prevalence in unselected breast cancer patients was 1.8%. Six in ten BRCA carriers were not detected by selective clinical screening of individuals.
  •  
22.
  • Sud, Amit, et al. (författare)
  • Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
  • 2017
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1, s. 1892-1892
  • Tidskriftsartikel (refereegranskat)abstract
    • Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide association study, and replication totalling 5,314 cases and 16,749 controls. We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10-8) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10-17), 6q23.3 (rs6928977, P = 4.62 × 10-11), 10p14 (rs3781093, P = 9.49 × 10-13), 13q34 (rs112998813, P = 4.58 × 10-8) and 16p13.13 (rs34972832, P = 2.12 × 10-8). Additionally, independent loci within the HLA region are observed for nodular sclerosis Hodgkin lymphoma (rs9269081, HLA-DPB1*03:01, Val86 in HLA-DRB1) and mixed cellularity Hodgkin lymphoma (rs1633096, rs13196329, Val86 in HLA-DRB1). The new and established risk loci localise to areas of active chromatin and show an over-representation of transcription factor binding for determinants of B-cell development and immune response.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 21-22 av 22
Typ av publikation
tidskriftsartikel (22)
Typ av innehåll
refereegranskat (21)
övrigt vetenskapligt/konstnärligt (1)
Författare/redaktör
Dunning, Alison M. (20)
Easton, Douglas F. (15)
Peto, Julian (10)
Haiman, Christopher ... (9)
Bojesen, Stig E. (9)
Cox, Angela (9)
visa fler...
Czene, Kamila (9)
Hall, Per (9)
Simard, Jacques (9)
Pharoah, Paul D. P. (9)
Schmidt, Marjanka K. (9)
Le Marchand, Loïc (9)
Nevanlinna, Heli (8)
Blomqvist, Carl (8)
Chang-Claude, Jenny (8)
Giles, Graham G (8)
Brenner, Hermann (8)
Neuhausen, Susan L (8)
Arndt, Volker (8)
Milne, Roger L. (8)
Bolla, Manjeet K. (8)
Andrulis, Irene L. (8)
Anton-Culver, Hoda (8)
Benitez, Javier (8)
Brauch, Hiltrud (8)
Burwinkel, Barbara (8)
Chenevix-Trench, Geo ... (8)
Cross, Simon S. (8)
Fasching, Peter A. (8)
Figueroa, Jonine (8)
Guenel, Pascal (8)
Hamann, Ute (8)
Hopper, John L. (8)
Jakubowska, Anna (8)
Lambrechts, Diether (8)
Mannermaa, Arto (8)
Margolin, Sara (8)
Meindl, Alfons (8)
Radice, Paolo (8)
Sawyer, Elinor J. (8)
Schmutzler, Rita K. (8)
Winqvist, Robert (8)
Zheng, Wei (8)
Couch, Fergus J. (8)
Garcia-Closas, Monts ... (8)
Wang, Qin (7)
Michailidou, Kyriaki (7)
Devilee, Peter (7)
Gonzalez-Neira, Anna (7)
Hollestelle, Antoine ... (7)
visa färre...
Lärosäte
Lunds universitet (17)
Uppsala universitet (11)
Karolinska Institutet (11)
Umeå universitet (9)
Linköpings universitet (2)
Språk
Engelska (22)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (22)
Naturvetenskap (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