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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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Hamdi, Yosr,Soucy, Penny,Kuchenbaeker, Karoline B.,Pastinen, Tomi,Droit, Arnaud,Lemaç,on, Audrey,Adlard, Julian,Aittomä,ki, Kristiina,Andrulis, Irene L.,Arason, Adalgeir,Arnold, Norbert,Arun Springer US 2017 Breast cancer research and treatment Vol.161 No.1
<P><B>Purpose</B></P><P><I>Cis</I>-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among <I>BRCA1</I> and <I>BRCA2</I> mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.</P><P><B>Methods</B></P><P>Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 <I>BRCA1</I> and 8211 <I>BRCA2</I> mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of <I>BRCA1/2</I>.</P><P><B>Results</B></P><P>We identified a region on 11q22.3 that is significantly associated with breast cancer risk in <I>BRCA1</I> mutation carriers (most significant SNP rs228595 <I>p</I> = 7 × 10<SUP>−6</SUP>). This association was absent in <I>BRCA2</I> carriers (<I>p</I> = 0.57). The 11q22.3 region notably encompasses genes such as <I>ACAT1</I>, <I>NPAT</I>, and <I>ATM</I>. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for <I>ACAT1</I>, <I>ATM</I>, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.</P><P><B>Conclusion</B></P><P>We identified 11q22.3 as a new modifier locus in <I>BRCA1</I> carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.</P><P><B>Electronic supplementary material</B></P><P>The online version of this article (doi:10.1007/s10549-016-4018-2) contains supplementary material, which is available to authorized users.</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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