{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T15:44:48Z","timestamp":1776872688809,"version":"3.51.2"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,9,7]],"date-time":"2016-09-07T00:00:00Z","timestamp":1473206400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2016,9,7]],"date-time":"2016-09-07T00:00:00Z","timestamp":1473206400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Commun"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 <jats:italic>BRCA1<\/jats:italic> mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (<jats:italic>P<\/jats:italic>=9.2 \u00d7 10<jats:sup>\u221220<\/jats:sup>), ER-negative BC (<jats:italic>P<\/jats:italic>=1.1 \u00d7 10<jats:sup>\u221213<\/jats:sup>), <jats:italic>BRCA1<\/jats:italic>-associated BC (<jats:italic>P<\/jats:italic>=7.7 \u00d7 10<jats:sup>\u221216<\/jats:sup>) and triple negative BC (<jats:italic>P<\/jats:italic>-diff=2 \u00d7 10<jats:sup>\u22125<\/jats:sup>). Genotype-gene expression associations are identified for candidate target genes <jats:italic>ANKLE1<\/jats:italic> (<jats:italic>P<\/jats:italic>=2 \u00d7 10<jats:sup>\u22123<\/jats:sup>) and <jats:italic>ABHD8<\/jats:italic> (<jats:italic>P<\/jats:italic>&lt;2 \u00d7 10<jats:sup>\u22123<\/jats:sup>). Chromosome conformation capture identifies interactions between four candidate SNPs and <jats:italic>ABHD8<\/jats:italic>, and luciferase assays indicate six risk alleles increased transactivation of the <jats:italic>ADHD8<\/jats:italic> promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces <jats:italic>ANKLE1<\/jats:italic> downregulation; and mRNA stability assays indicate functional effects for an <jats:italic>ANKLE1<\/jats:italic> 3\u2032-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate <jats:italic>ABHD8<\/jats:italic> and perhaps <jats:italic>ANKLE1<\/jats:italic> expression, and indicate common mechanisms underlying breast and ovarian cancer risk.<\/jats:p>","DOI":"10.1038\/ncomms12675","type":"journal-article","created":{"date-parts":[[2016,9,7]],"date-time":"2016-09-07T06:36:56Z","timestamp":1473230216000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":86,"title":["Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast\u2013ovarian cancer susceptibility locus"],"prefix":"10.1038","volume":"7","author":[{"given":"Kate","family":"Lawrenson","sequence":"first","affiliation":[]},{"given":"Siddhartha","family":"Kar","sequence":"additional","affiliation":[]},{"given":"Karen","family":"McCue","sequence":"additional","affiliation":[]},{"given":"Karoline","family":"Kuchenbaeker","sequence":"additional","affiliation":[]},{"given":"Kyriaki","family":"Michailidou","sequence":"additional","affiliation":[]},{"given":"Jonathan","family":"Tyrer","sequence":"additional","affiliation":[]},{"given":"Jonathan","family":"Beesley","sequence":"additional","affiliation":[]},{"given":"Susan J.","family":"Ramus","sequence":"additional","affiliation":[]},{"given":"Qiyuan","family":"Li","sequence":"additional","affiliation":[]},{"given":"Melissa K.","family":"Delgado","sequence":"additional","affiliation":[]},{"given":"Janet M.","family":"Lee","sequence":"additional","affiliation":[]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[]},{"given":"Irene L.","family":"Andrulis","sequence":"additional","affiliation":[]},{"given":"Hoda","family":"Anton-Culver","sequence":"additional","affiliation":[]},{"given":"Volker","family":"Arndt","sequence":"additional","affiliation":[]},{"given":"Banu K.","family":"Arun","sequence":"additional","affiliation":[]},{"given":"Brita","family":"Arver","sequence":"additional","affiliation":[]},{"given":"Elisa V.","family":"Bandera","sequence":"additional","affiliation":[]},{"given":"Monica","family":"Barile","sequence":"additional","affiliation":[]},{"given":"Rosa B.","family":"Barkardottir","sequence":"additional","affiliation":[]},{"given":"Daniel","family":"Barrowdale","sequence":"additional","affiliation":[]},{"given":"Matthias W.","family":"Beckmann","sequence":"additional","affiliation":[]},{"given":"Javier","family":"Benitez","sequence":"additional","affiliation":[]},{"given":"Andrew","family":"Berchuck","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Bisogna","sequence":"additional","affiliation":[]},{"given":"Line","family":"Bjorge","sequence":"additional","affiliation":[]},{"given":"Carl","family":"Blomqvist","sequence":"additional","affiliation":[]},{"given":"William","family":"Blot","sequence":"additional","affiliation":[]},{"given":"Natalia","family":"Bogdanova","sequence":"additional","affiliation":[]},{"given":"Anders","family":"Bojesen","sequence":"additional","affiliation":[]},{"given":"Stig E.","family":"Bojesen","sequence":"additional","affiliation":[]},{"given":"Manjeet K.","family":"Bolla","sequence":"additional","affiliation":[]},{"given":"Bernardo","family":"Bonanni","sequence":"additional","affiliation":[]},{"given":"Anne-Lise","family":"B\u00f8rresen-Dale","sequence":"additional","affiliation":[]},{"given":"Hiltrud","family":"Brauch","sequence":"additional","affiliation":[]},{"given":"Paul","family":"Brennan","sequence":"additional","affiliation":[]},{"given":"Hermann","family":"Brenner","sequence":"additional","affiliation":[]},{"given":"Fiona","family":"Bruinsma","sequence":"additional","affiliation":[]},{"given":"Joan","family":"Brunet","sequence":"additional","affiliation":[]},{"given":"Shaik Ahmad","family":"Buhari","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Burwinkel","sequence":"additional","affiliation":[]},{"given":"Ralf","family":"Butzow","sequence":"additional","affiliation":[]},{"given":"Saundra S.","family":"Buys","sequence":"additional","affiliation":[]},{"given":"Qiuyin","family":"Cai","sequence":"additional","affiliation":[]},{"given":"Trinidad","family":"Caldes","sequence":"additional","affiliation":[]},{"given":"Ian","family":"Campbell","sequence":"additional","affiliation":[]},{"given":"Rikki","family":"Cannioto","sequence":"additional","affiliation":[]},{"given":"Jenny","family":"Chang-Claude","sequence":"additional","affiliation":[]},{"given":"Jocelyne","family":"Chiquette","sequence":"additional","affiliation":[]},{"given":"Ji-Yeob","family":"Choi","sequence":"additional","affiliation":[]},{"given":"Kathleen B. 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