SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Ottini Laura) "

Sökning: WFRF:(Ottini Laura)

  • Resultat 11-15 av 15
  • Föregående 1[2]
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
11.
  • Osorio, Ana, et al. (författare)
  • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
  • 2014
  • Ingår i: PLoS Genetics. - Public Library of Science. - 1553-7404. ; 10:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
12.
  • Ramus, Susan J, et al. (författare)
  • Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers
  • 2011
  • Ingår i: JOURNAL OF THE NATIONAL CANCER INSTITUTE. - Oxford University Press. - 0027-8874. ; 103:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. Methods We genotyped rs3814113 in 10 029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. Results The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 x 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 x 10(-4)). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. Conclusion Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation.
  •  
13.
  • Ramus, Susan J, et al. (författare)
  • Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
  • 2012
  • Ingår i: Human Mutation. - Wiley-Blackwell. - 1059-7794. ; 33:4, s. 690-702
  • Tidskriftsartikel (refereegranskat)abstract
    • Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 × 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 × 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 × 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.
  •  
14.
  • Blanco, Ignacio, et al. (författare)
  • Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
  • 2015
  • Ingår i: PLoS ONE. - Public Library of Science. - 1932-6203. ; 10:4
  • Tidskriftsartikel (refereegranskat)abstract
    • While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 - 1.15, p = 1.9 x 10(-4) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 - 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p(interaction) values greater than 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.
15.
  • Orr, Nick, et al. (författare)
  • Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk
  • 2012
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1546-1718. ; 44:11, s. 1182-1184
  • Tidskriftsartikel (refereegranskat)abstract
    • We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 x 10(-13); odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 x 10(-15); OR = 1.50).
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 11-15 av 15
  • Föregående 1[2]
Åtkomst
fritt online (7)
Typ av publikation
tidskriftsartikel (15)
Typ av innehåll
refereegranskat (15)
Författare/redaktör
Benitez, Javier (16)
Nevanlinna, Heli (14)
Sinilnikova, Olga M. (14)
Radice, Paolo (14)
Osorio, Ana (14)
Couch, Fergus J. (14)
visa fler...
Peissel, Bernard (14)
Easton, Douglas F. (13)
McGuffog, Lesley (13)
Healey, Sue (13)
Stoppa-Lyonnet, Domi ... (13)
Mazoyer, Sylvie (13)
Peterlongo, Paolo (13)
Manoukian, Siranoush (13)
Lazaro, Conxi (13)
Neuhausen, Susan L (12)
Meindl, Alfons (12)
Hamann, Ute (12)
Antoniou, Antonis C. (12)
Frost, Debra (12)
Domchek, Susan M. (12)
Caldes, Trinidad (12)
Montagna, Marco (12)
Offit, Kenneth (12)
Andrulis, Irene L. (11)
Chenevix-Trench, Geo ... (11)
Thomassen, Mads (11)
Barrowdale, Daniel (11)
Terry, Mary-Beth (11)
de la Hoya, Miguel (11)
Greene, Mark H. (11)
Hansen, Thomas V. O. (11)
Godwin, Andrew K. (11)
Karlan, Beth Y. (11)
Simard, Jacques (11)
Soucy, Penny (11)
John, Esther M (10)
Lubinski, Jan (10)
Jakubowska, Anna (10)
Engel, Christoph (10)
Arnold, Norbert (10)
Sutter, Christian (10)
Nathanson, Katherine ... (10)
Vijai, Joseph (10)
Gerdes, Anne-Marie (10)
Bonanni, Bernardo (10)
Singer, Christian F. (10)
Mai, Phuong L. (10)
Blanco, Ignacio (10)
Ejlertsen, Bent (10)
visa färre...
Lärosäte
Lunds universitet (15)
Karolinska Institutet (13)
Linköpings universitet (7)
Uppsala universitet (5)
Umeå universitet (2)
Göteborgs universitet (1)
Språk
Engelska (15)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (15)
Teknik (2)
Naturvetenskap (1)
Samhällsvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy