SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "LAR1:gu ;mspu:(article);access:(free);spr:eng;pers:(Peock Susan)"

Sökning: LAR1:gu > Tidskriftsartikel > Fritt online > Engelska > Peock Susan

  • Resultat 1-4 av 4
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Engel, Christoph, et al. (författare)
  • Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
  • 2010
  • Ingår i: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1538-7755. ; 19:11, s. 2859-68
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of apoptosis. Suppression of apoptosis is one of the major mechanisms underlying the origin and progression of cancer. Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population. Methods: To evaluate whether the CASP8 D302H (CASP10 V410I) polymorphisms modify breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects of white European origin provided by 19 (18) study groups that participate in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A weighted cohort approach was used to estimate hazard ratios (HR) and 95% confidence intervals (95% CI). Results: The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; P-trend = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; P-trend = 0.004) for BRCA1 but not for BRCA2 mutation carriers. The CASP10 V410I polymorphism was not associated with breast or ovarian cancer risk for BRCA1 or BRCA2 mutation carriers. Conclusions: CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriers but not for BRCA2 mutation carriers. Impact: The combined application of these and other recently identified genetic risk modifiers could in the future allow better individual risk calculation and could aid in the individualized counseling and decision making with respect to preventive options in BRCA1 mutation carriers.
2.
  • Maxwell, Christopher A, et al. (författare)
  • Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
  • 2011
  • Ingår i: PLoS Biology. - PLoS. - 1544-9173. ; 9:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio ((w)HR) = 1.09 (95% CI 1.02-1.16), p(trend) = 0.017; and n = 3,965, (w)HR = 1.04 (95% CI 0.94-1.16), p(trend) = 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubules. Mechanistically, reorganization is facilitated by BRCA1 and impaired by AURKA, which is regulated by negative feedback involving RHAMM and TPX2. Taken together, our data provide fundamental insight into apicobasal polarization through BRCA1 function, which may explain the expanded cell subsets and characteristic tumor type accompanying BRCA1 mutation, while also linking this process to sporadic breast cancer through perturbation of HMMR/RHAMM.
3.
  • Mulligan, Anna Marie, et al. (författare)
  • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers:
  • 2011
  • Ingår i: Breast Cancer Research. - BioMed Central. - 1465-542X. ; 13:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. less thanbrgreater than less thanbrgreater thanMethods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. less thanbrgreater than less thanbrgreater thanResults: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. less thanbrgreater than less thanbrgreater thanConclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
4.
  • 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. - 1465-542X. ; 12:6
  • Tidskriftsartikel (refereegranskat)abstract
    • This study provides evidence that the SMAD3 gene, which encodes a key regulatory protein in the transforming growth factor beta signalling pathway and is known to interact directly with BRCA2, may contribute to increased risk of breast cancer in BRCA2 mutation carriers. This finding suggests that genes with expression associated with BRCA1 and BRCA2 mutation status are enriched for the presence of common genetic modifiers of breast cancer risk in these populations.
Skapa referenser, mejla, bekava och länka
  • Resultat 1-4 av 4
Åtkomst
Typ av publikation
Typ av innehåll
refereegranskat (4)
Författare/redaktör
Benitez, Javier (5)
Nevanlinna, Heli (4)
Karlsson, Per, 1963- ... (4)
Evans, D. Gareth (4)
Spurdle, Amanda B. (4)
Schmutzler, Rita K. (4)
visa fler...
Meindl, Alfons (4)
Chenevix-Trench, Geo ... (4)
Easton, Douglas F. (4)
Antoniou, Antonis C. (4)
McGuffog, Lesley (4)
Sinilnikova, Olga M. (4)
Frost, Debra (4)
Wappenschmidt, Barba ... (4)
Domchek, Susan M. (4)
Nathanson, Katherine ... (4)
Caldes, Trinidad (4)
Couch, Fergus J. (4)
Deissler, Helmut (4)
Eccles, Diana (3)
Heikkinen, Tuomas (3)
Hamann, Ute (3)
Wang, Xianshu (3)
Beesley, Jonathan (3)
Healey, Sue (3)
Cook, Margaret (3)
Izatt, Louise (3)
Stoppa-Lyonnet, Domi ... (3)
Mazoyer, Sylvie (3)
van der Luijt, Rob B ... (3)
Engel, Christoph (3)
Arnold, Norbert (3)
Niederacher, Dieter (3)
Sutter, Christian (3)
Lindor, Noralane M. (3)
Osorio, Ana (3)
Godwin, Andrew K. (3)
Lalloo, Fiona (3)
Varon-Mateeva, Raymo ... (3)
Chen, Xiaoqing (3)
Aittomaki, Kristiina (2)
Guigo, Roderic (2)
Gómez-Baldó, Laia, (2)
Devilee, Peter (2)
Andrulis, Irene L. (2)
Ehrencrona, Hans (2)
Oliver, Clare (2)
Eeles, Ros (2)
Chu, Carol (2)
visa färre...
Lärosäte
Göteborgs universitet (4)
Lunds universitet (4)
Uppsala universitet (2)
Linköpings universitet (1)
Umeå universitet (1)
Språk
Ämne (HSV)
Medicin och hälsovetenskap (4)
Naturvetenskap (1)
Samhällsvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy