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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Authors :
Lawrenson, K.
Kar, S.
McCue, K.
Kuchenbaeker, K.
Michailidou, K.
Tyrer, J.
Beesley, J.
Ramus, S.J.
Li, Q.
Delgado, M.K.
Lee, J.M.
Aittomaki, K.
Andrulis, I.L.
Anton-Culver, H.
Arndt, V.
Arun, B.K.
Arver, B.
Bandera, E.V.
Barile, M.
Barkardottir, R.B.
Barrowdale, D.
Beckmann, M.W.
Benitez, J.
Berchuck, A.
Bisogna, M.
Bjorge, L.
Blomqvist, C.
Blot, W.
Bogdanova, N.
Bojesen, A.
Bojesen, S.E.
Bolla, M.K.
Bonanni, B.
Borresen-Dale, A.L.
Brauch, H.
Brennan, P.
Brenner, H.
Bruinsma, F.
Brunet, J.
Buhari, S.A.
Burwinkel, B.
Butzow, R.
Buys, S.S.
Cai, Q.
Caldes, T.
Campbell, I.
Canniotto, R.
Chang-Claude, J.
Chiquette, J.
Choi, J.Y.
Claes, K.B.
Cook, L.S.
Cox, A
Cramer, D.W
Cross, S.S.
Cybulski, C.
Czene, K.
Daly, M.B.
Damiola, F.
Dansonka-Mieszkowska, A.
Darabi, H.
Dennis, J.
Devilee, P.
Diez, O.
Doherty, J.A.
Domchek, S.M.
Dorfling, C.M.
Dork, T.
Dumont, M.
Ehrencrona, H.
Ejlertsen, B.
Ellis, S.
Engel, C.
Lee, E.
Evans, D.G.
Fasching, P.A.
Feliubadalo, L.
Figueroa, J.
Flesch-Janys, D.
Fletcher, O.
Flyger, H.
Foretova, L.
Fostira, F.
Foulkes, W.D.
Fridley, B.L.
Friedman, E.
Frost, D.
Gambino, G.
Ganz, P.A.
Garber, J.
Garcia-Closas, M.
Gentry-Maharaj, A.
Ghoussaini, M.
Giles, G.G.
Glasspool, R.
Godwin, A.K.
Goldberg, M.S.
Goldgar, D.E.
Gonzalez-Neira, A.
Goode, E.L.
Kiemeney, B.
Massuger, L.F.A.G.
Mensenkamp, A.R.
Source :
Nature Communications, 7, pp. 12675, Nature Communications, 7, 12675
Publication Year :
2016

Abstract

Contains fulltext : 172592.pdf (Publisher’s version ) (Open Access) 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 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 x 10(-20)), ER-negative BC (P=1.1 x 10(-13)), BRCA1-associated BC (P=7.7 x 10(-16)) and triple negative BC (P-diff=2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 x 10(-3)) and ABHD8 (P

Subjects

Subjects :
Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]
Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]
Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]

Details

ISSN :
20411723
Volume :
7
Database :
OpenAIRE
Journal :
Nature Communications
Accession number :
edsair.dedup.wf.001..40e96b8756aa0482cd5b2ea54e53c224

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