Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

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Horne , H N , Chung , C C , Zhang , H , Yu , K , Prokunina-Olsson , L , Michailidou , K , Bolla , M K , Wang , Q , Dennis , J , Hopper , J L , Southey , M C , Schmidt , M K , Broeks , A , Muir , K , Lophatananon , A , Fasching , P A , Beckmann , M W , Fletcher , O , Johnson , N , Sawyer , E J , Tomlinson , I , Burwinkel , B , Marme , F , Guenel , P , Truong , T , Bojesen , S E , Flyger , H , Benitez , J , Gonzalez-Neira , A , Anton-Culver , H , Neuhausen , S L , Brenner , H , Arndt , V , Meindl , A , Schmutzler , R K , Brauch , H , Hamann , U , Nevanlinna , H , Khan , S , Matsuo , K , Iwata , H , Dork , T , Bogdanova , N V , Lindblom , A , Margolin , S , Mannermaa , A , Kosma , V-M , Chenevix-Trench , G , Wu , A H , den Berg , D V & kConFab AOCS Investigators 2016 , ' Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus ' PLoS One , vol. 11 , no. 8 , 0160316 . DOI: 10.1371/journal.pone.0160316

Title: Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
Author: Horne, Hisani N.; Chung, Charles C.; Zhang, Han; Yu, Kai; Prokunina-Olsson, Ludmila; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Hopper, John L.; Southey, Melissa C.; Schmidt, Marjanka K.; Broeks, Annegien; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A.; Beckmann, Matthias W.; Fletcher, Olivia; Johnson, Nichola; Sawyer, Elinor J.; Tomlinson, Ian; Burwinkel, Barbara; Marme, Frederik; Guenel, Pascal; Truong, Therese; Bojesen, Stig E.; Flyger, Henrik; Benitez, Javier; Gonzalez-Neira, Anna; Anton-Culver, Hoda; Neuhausen, Susan L.; Brenner, Hermann; Arndt, Volker; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Hamann, Ute; Nevanlinna, Heli; Khan, Sofia; Matsuo, Keitaro; Iwata, Hiroji; Dork, Thilo; Bogdanova, Natalia V.; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Chenevix-Trench, Georgia; Wu, Anna H.; den Berg, David Ven; kConFab AOCS Investigators
Contributor: University of Helsinki, Department of Obstetrics and Gynegology
University of Helsinki, Department of Obstetrics and Gynegology
Date: 2016-08-24
Language: eng
Number of pages: 15
Belongs to series: PLoS One
ISSN: 1932-6203
URI: http://hdl.handle.net/10138/168116
Abstract: The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Perallelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10(-21)). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P
Subject: GENOME-WIDE ASSOCIATION
COMMON VARIANTS
CONFER SUSCEPTIBILITY
GENETIC-VARIATION
14Q24.1 RAD51L1
RISK
HETEROGENEITY
ALLELES
DISEASE
3122 Cancers
3123 Gynaecology and paediatrics
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