{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T02:54:02Z","timestamp":1670295242055},"reference-count":0,"publisher":"American Association for Cancer Research (AACR)","issue":"2_Supplement","content-domain":{"domain":["aacrjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Breast cancer is the most common cancer affecting women in the developed world. However, the current knowledge of breast cancer genetic risk cannot explain as much as two-thirds of cases. While successful, GWAS have not: (1) contributed to explain the genetic causality of risk; (2) provided an indication of the biological mechanisms involved.<\/jats:p>\n               <jats:p>Based on our previous results demonstrating that cis-regulatory variation is involved in breast cancer risk, we have performed whole-genome differential allelic expression (DAE) analysis of sixty-four normal breast tissue samples. We integrated this genome-wide DAE map with published breast cancer GWAS risk loci according to chromosome location, and linkage disequilibrium between DAE SNPs and GWAS associated SNPs.<\/jats:p>\n               <jats:p>We found 15 loci (20%) displaying GWAS associated SNPs in strong linkage disequilibrium with SNPs displaying DAE. Potential regulatory SNPs in top two candidate loci are being currently mapped and functionally studied.<\/jats:p>\n               <jats:p>We are now integrating the DAE whole-genome map with unpublished GWAS data, to test the efficiency of this approach to help prioritise loci for further risk-association validation. The large overlap between GWAS and DAE data confirms the importance of cis-regulation in the biology of breast cancer risk and provides a new powerful tool to prioritise and functionally analyse risk loci identified through GWAS.<\/jats:p>\n               <jats:p>Citation Format: Joana Xavier, Roslin Russell, Bernardo P. Almeida, Nordiana Rosli, Catia Rocha, Shamith Samarajiwa, Suet-Feung Chin, Carlos Caldas, Bruce AJ Ponder, Ana-Teresa Maia. Integrative differential allelic expression analysis efficiently reveals the biology underlying risk to breast cancer. [abstract]. In: Proceedings of the AACR Special Conference on Advances in Breast Cancer Research; Oct 17-20, 2015; Bellevue, WA. Philadelphia (PA): AACR; Mol Cancer Res 2016;14(2_Suppl):Abstract nr A31.<\/jats:p>","DOI":"10.1158\/1557-3125.advbc15-a31","type":"journal-article","created":{"date-parts":[[2016,5,20]],"date-time":"2016-05-20T08:53:44Z","timestamp":1463734424000},"page":"A31-A31","update-policy":"http:\/\/dx.doi.org\/10.1158\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Abstract A31: Integrative differential allelic expression analysis efficiently reveals the biology underlying risk to breast cancer"],"prefix":"10.1158","volume":"14","author":[{"given":"Joana","family":"Xavier","sequence":"first","affiliation":[{"name":"1Centre for Biomedical Research\/University of Algarve, Faro, Portugal,"}]},{"given":"Roslin","family":"Russell","sequence":"additional","affiliation":[{"name":"2Cambridge Institute - CRUK\/University of Cambridge, Cambridge, United Kingdom,"}]},{"given":"Bernardo P.","family":"Almeida","sequence":"additional","affiliation":[{"name":"1Centre for Biomedical Research\/University of Algarve, Faro, Portugal,"}]},{"given":"Nordiana","family":"Rosli","sequence":"additional","affiliation":[{"name":"1Centre for Biomedical Research\/University of Algarve, Faro, Portugal,"}]},{"given":"Catia","family":"Rocha","sequence":"additional","affiliation":[{"name":"1Centre for Biomedical Research\/University of Algarve, Faro, Portugal,"}]},{"given":"Shamith","family":"Samarajiwa","sequence":"additional","affiliation":[{"name":"3Hutchison\/MRC Research Centre, Cambridge, United Kingdom."}]},{"given":"Suet-Feung","family":"Chin","sequence":"additional","affiliation":[{"name":"2Cambridge Institute - CRUK\/University of Cambridge, Cambridge, United Kingdom,"}]},{"given":"Carlos","family":"Caldas","sequence":"additional","affiliation":[{"name":"2Cambridge Institute - CRUK\/University of Cambridge, Cambridge, United Kingdom,"}]},{"given":"Bruce AJ","family":"Ponder","sequence":"additional","affiliation":[{"name":"2Cambridge Institute - CRUK\/University of Cambridge, Cambridge, United Kingdom,"}]},{"given":"Ana-Teresa","family":"Maia","sequence":"additional","affiliation":[{"name":"1Centre for Biomedical Research\/University of Algarve, Faro, Portugal,"}]}],"member":"1086","published-online":{"date-parts":[[2016,2,29]]},"container-title":["Molecular Cancer Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/aacrjournals.org\/mcr\/article\/14\/2_Supplement\/A31\/236576\/Abstract-A31-Integrative-differential-allelic","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/aacrjournals.org\/mcr\/article\/14\/2_Supplement\/A31\/236576\/Abstract-A31-Integrative-differential-allelic","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T07:27:33Z","timestamp":1654586853000},"score":1,"resource":{"primary":{"URL":"https:\/\/aacrjournals.org\/mcr\/article\/14\/2_Supplement\/A31\/236576\/Abstract-A31-Integrative-differential-allelic"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,1]]},"references-count":0,"journal-issue":{"issue":"2_Supplement","published-online":{"date-parts":[[2016,2,29]]},"published-print":{"date-parts":[[2016,2,1]]}},"URL":"https:\/\/doi.org\/10.1158\/1557-3125.advbc15-a31","relation":{},"ISSN":["1541-7786","1557-3125"],"issn-type":[{"value":"1541-7786","type":"print"},{"value":"1557-3125","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,1]]}}}