SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Patterson C) srt2:(2015-2019)"

Sökning: WFRF:(Patterson C) > (2015-2019)

  • Resultat 1-10 av 36
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  •  
3.
  • Figlioli, G, et al. (författare)
  • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
  • 2019
  • Ingår i: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 5, s. 38-
  • Tidskriftsartikel (refereegranskat)abstract
    • Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
  •  
4.
  •  
5.
  •  
6.
  •  
7.
  •  
8.
  • 2019
  • Tidskriftsartikel (refereegranskat)
  •  
9.
  •  
10.
  • Olalde, I., et al. (författare)
  • The Beaker phenomenon and the genomic transformation of northwest Europe
  • 2018
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 555:7695, s. 190-196
  • Tidskriftsartikel (refereegranskat)abstract
    • From around 2750 to 2500 bc, Bell Beaker pottery became widespread across western and central Europe, before it disappeared between 2200 and 1800 bc. The forces that propelled its expansion are a matter of long-standing debate, and there is support for both cultural diffusion and migration having a role in this process. Here we present genome-wide data from 400 Neolithic, Copper Age and Bronze Age Europeans, including 226 individuals associated with Beaker-complex artefacts. We detected limited genetic affinity between Beaker-complex-associated individuals from Iberia and central Europe, and thus exclude migration as an important mechanism of spread between these two regions. However, migration had a key role in the further dissemination of the Beaker complex. We document this phenomenon most clearly in Britain, where the spread of the Beaker complex introduced high levels of steppe-related ancestry and was associated with the replacement of approximately 90% of Britain's gene pool within a few hundred years, continuing the east-to-west expansion that had brought steppe-related ancestry into central and northern Europe over the previous centuries.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 36
Typ av publikation
tidskriftsartikel (32)
konferensbidrag (3)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (32)
övrigt vetenskapligt/konstnärligt (4)
Författare/redaktör
Thomas, S (5)
De Henauw, S. (5)
Molnár, D. (5)
Moreno, LA (5)
Sjostrom, M (5)
Manios, Y (5)
visa fler...
Widhalm, K (5)
Gottrand, F (5)
Kafatos, A (5)
Kersting, M (5)
Huybrechts, I (5)
Gonzalez-Gross, M (5)
Gutierrez, A. (4)
Ortega, FB (4)
Merino, G. (4)
Vardavas, C (4)
Garcia, E. (4)
Sollerman, Jesper (4)
Ferrari, M (4)
Larsson, M (4)
Hall, G. (4)
Cenko, S. Bradley (4)
Graham, Matthew J. (4)
De, Kishalay (4)
Bellm, Eric C. (4)
Rusholme, Ben (4)
Zaccaria, M. (4)
Sanchez, MJ (4)
Masson, A. (4)
Broberg, A. (4)
Navarro, P. (4)
Labayen, I (4)
Ruiz, JR (4)
Masci, Frank J. (4)
Hagstromer, M (4)
Fredriksson, H (4)
Kupfer, Thomas (4)
Walters, Richard (4)
De Bourdeaudhuij, I (4)
Kwak, L. (4)
Rizzo, N (4)
Jimenez-Pavon, D (4)
Artero, EG (4)
Castillo, MJ (4)
Gomez, S. (4)
Dallongeville, J (4)
Marcos, A (4)
Gilbert, C (4)
Libersa, C (4)
Castello, S (4)
visa färre...
Lärosäte
Karolinska Institutet (20)
Umeå universitet (7)
Lunds universitet (7)
Stockholms universitet (6)
Uppsala universitet (5)
Göteborgs universitet (3)
visa fler...
Kungliga Tekniska Högskolan (1)
Högskolan i Halmstad (1)
Örebro universitet (1)
Linköpings universitet (1)
Chalmers tekniska högskola (1)
Högskolan Dalarna (1)
Sveriges Lantbruksuniversitet (1)
visa färre...
Språk
Engelska (36)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (16)
Naturvetenskap (10)
Humaniora (1)

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