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RISS 인기검색어
- 검색키워드
- 저자 : Burwinkel, Barbara (검색결과 3 건)
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Milne, Roger L.,Burwinkel, Barbara,Michailidou, Kyriaki,Arias-Perez, Jose-Ignacio,Zamora, M. Pilar,Mené,ndez-Rodrí,guez, Primitiva,Hardisson, David,Mendiola, Marta,Gonzá,lez-Neira, A IRL Press 2014 Human molecular genetics Vol.23 No.22
<P>Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: <I>ATXN7-</I>K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04–1.10, <I>P</I> = 2.9 × 10<SUP>−6</SUP>], <I>AKAP9-</I>M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03–1.07, <I>P</I> = 1.7 × 10<SUP>−6</SUP>) and <I>NEK10-</I>L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07–1.12, <I>P</I> = 5.1 × 10<SUP>−17</SUP>). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for <I>ATXN7-</I>K264R, OR = 1.07 (95% CI = 1.05–1.10, <I>P</I> = 1.0 × 10<SUP>−8</SUP>); for <I>AKAP9-</I>M463I, OR = 1.05 (95% CI = 1.04–1.07, <I>P</I> = 2.0 × 10<SUP>−10</SUP>). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.</P>
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Milne, Roger L.,Bení,tez, Javier,Nevanlinna, Heli,Heikkinen, Tuomas,Aittomä,ki, Kristiina,Blomqvist, Carl,Arias, José,Ignacio,Zamora, M. Pilar,Burwinkel, Barbara,Bartram, Claus R.,Mein Oxford University Press 2009 Journal of the National Cancer Institute Vol.101 No.14
<P>BACKGROUND: A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium. METHODS: 2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided. RESULTS: We found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P(trend) = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P > or = .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002). CONCLUSION: The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.</P>
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Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls.
Fletcher, Olivia,Johnson, Nichola,Dos Santos Silva, Isabel,Orr, Nick,Ashworth, Alan,Nevanlinna, Heli,Heikkinen, Tuomas,Aittomä,ki, Kristiina,Blomqvist, Carl,Burwinkel, Barbara,Bartram, Claus R,Mei American Association for Cancer Research 2010 Cancer Epidemiology, Biomarkers & Prevention Vol.19 No.9
<P>BACKGROUND: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious. METHODS: We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucleotide polymorphisms (SNP) in ATM (S49C, S707P, F858L, P1054R, and L1420F) in 26,101 breast cancer cases and 29,842 controls from 23 studies in the Breast Cancer Association Consortium. RESULTS: Combining the data from all five SNPs, the odds ratio (OR) was 1.05 for being a heterozygote for any of the SNPs and 1.51 for being a rare homozygote for any of the SNPs with an overall trend OR of 1.06 (P(trend) = 0.04). The trend OR among bilateral and familial cases was 1.12 (95% confidence interval, 1.02-1.23; P(trend) = 0.02). CONCLUSIONS: In this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer. Impact: Testing the combined effects of rare missense variants in known breast cancer genes in large collaborative studies should clarify their overall contribution to breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev; 19(9); 2143-51. ©2010 AACR.</P>
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