{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:00:51Z","timestamp":1762542051478},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2012,4,18]],"date-time":"2012-04-18T00:00:00Z","timestamp":1334707200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2012,4,18]],"date-time":"2012-04-18T00:00:00Z","timestamp":1334707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                        <jats:title>Introduction<\/jats:title>\n                        <jats:p><jats:italic>Cis<\/jats:italic>-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that <jats:italic>BRCA2<\/jats:italic> shows differential allelic expression and we hypothesize that the known variable penetrance of <jats:italic>BRCA2<\/jats:italic> mutations might be associated with this mechanism.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Methods<\/jats:title>\n                        <jats:p>We combined haplotype analysis and differential allelic expression of <jats:italic>BRCA2<\/jats:italic> in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on <jats:italic>in silico<\/jats:italic> predictions for regulatory potential and disruption of transcription factor binding, and were functionally analyzed <jats:italic>in vitro<\/jats:italic> and <jats:italic>in vivo<\/jats:italic> in normal and breast cancer cell lines. SNPs tagging the expression haplotypes were correlated with the total expression of several genes in breast tissue measured by Taqman and microarray technologies. The effect of the expression haplotypes on breast cancer risk in <jats:italic>BRCA2<\/jats:italic> mutation carriers was investigated in 2,754 carriers.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>We identified common haplotypes associated with differences in the levels of <jats:italic>BRCA2<\/jats:italic> expression in human breast cells. We characterized three <jats:italic>cis<\/jats:italic>-regulatory SNPs located at the promoter and two intronic regulatory elements which affect the binding of the transcription factors C\/EBP\u03b1, HMGA1, D-binding protein (DBP) and ZF5. We showed that the expression haplotypes also correlated with changes in the expression of other genes in normal breast. Furthermore, there was suggestive evidence that the minor allele of SNP rs4942440, which is associated with higher <jats:italic>BRCA2<\/jats:italic> expression, is also associated with a reduced risk of breast cancer (per-allele hazard ratio (HR) = 0.85, 95% confidence interval (CI) = 0.72 to 1.00, <jats:italic>P<\/jats:italic>-trend = 0.048).<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusions<\/jats:title>\n                        <jats:p>Our work provides further insights into the role of <jats:italic>cis<\/jats:italic>-regulatory variation in the penetrance of disease-causing mutations. We identified small-effect genetic variants associated with allelic expression differences in <jats:italic>BRCA2<\/jats:italic> which could possibly affect the risk in mutation carriers through altering expression levels of the wild-type allele.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/bcr3169","type":"journal-article","created":{"date-parts":[[2012,4,18]],"date-time":"2012-04-18T14:14:25Z","timestamp":1334758465000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers"],"prefix":"10.1186","volume":"14","author":[{"given":"Ana-Teresa","family":"Maia","sequence":"first","affiliation":[]},{"given":"Antonis C","family":"Antoniou","sequence":"additional","affiliation":[]},{"given":"Martin","family":"O'Reilly","sequence":"additional","affiliation":[]},{"given":"Shamith","family":"Samarajiwa","sequence":"additional","affiliation":[]},{"given":"Mark","family":"Dunning","sequence":"additional","affiliation":[]},{"given":"Christiana","family":"Kartsonaki","sequence":"additional","affiliation":[]},{"given":"Suet-Feung","family":"Chin","sequence":"additional","affiliation":[]},{"given":"Christina N","family":"Curtis","sequence":"additional","affiliation":[]},{"given":"Lesley","family":"McGuffog","sequence":"additional","affiliation":[]},{"given":"Susan M","family":"Domchek","sequence":"additional","affiliation":[]},{"name":"EMBRACE","sequence":"additional","affiliation":[]},{"given":"Douglas F","family":"Easton","sequence":"additional","affiliation":[]},{"given":"Susan","family":"Peock","sequence":"additional","affiliation":[]},{"given":"Debra","family":"Frost","sequence":"additional","affiliation":[]},{"given":"D Gareth","family":"Evans","sequence":"additional","affiliation":[]},{"given":"Ros","family":"Eeles","sequence":"additional","affiliation":[]},{"given":"Louise","family":"Izatt","sequence":"additional","affiliation":[]},{"given":"Julian","family":"Adlard","sequence":"additional","affiliation":[]},{"given":"Diana","family":"Eccles","sequence":"additional","affiliation":[]},{"name":"GEMO Study Collaborators","sequence":"additional","affiliation":[]},{"given":"Olga M","family":"Sinilnikova","sequence":"additional","affiliation":[]},{"given":"Sylvie","family":"Mazoyer","sequence":"additional","affiliation":[]},{"given":"Dominique","family":"Stoppa-Lyonnet","sequence":"additional","affiliation":[]},{"given":"Marion","family":"Gauthier-Villars","sequence":"additional","affiliation":[]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[]},{"given":"Laurence","family":"Venat-Bouvet","sequence":"additional","affiliation":[]},{"given":"Capucine","family":"Delnatte","sequence":"additional","affiliation":[]},{"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[]},{"given":"Fergus J","family":"Couch","sequence":"additional","affiliation":[]},{"given":"Andrew K","family":"Godwin","sequence":"additional","affiliation":[]},{"given":"Maria Adelaide","family":"Caligo","sequence":"additional","affiliation":[]},{"name":"SWE-BRCA","sequence":"additional","affiliation":[]},{"given":"Rosa B","family":"Barkardottir","sequence":"additional","affiliation":[]},{"name":"kConFab Investigators","sequence":"additional","affiliation":[]},{"given":"Xiaoqing","family":"Chen","sequence":"additional","affiliation":[]},{"given":"Jonathan","family":"Beesley","sequence":"additional","affiliation":[]},{"given":"Sue","family":"Healey","sequence":"additional","affiliation":[]},{"given":"Carlos","family":"Caldas","sequence":"additional","affiliation":[]},{"given":"Georgia","family":"Chenevix-Trench","sequence":"additional","affiliation":[]},{"given":"Bruce AJ","family":"Ponder","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2012,4,18]]},"reference":[{"key":"2974_CR1","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1038\/nature02797","volume":"430","author":"M Morley","year":"2004","unstructured":"Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, Spielman RS, Cheung VG: Genetic analysis of genome-wide variation in human gene expression. 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