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

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

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 × 10 −20), ER-nega...

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Hauptverfasser: McCue, Karen, Kuchenbaeker, Karoline, Tyrer, Jonathan, Delgado, Melissa K, Aittomäki, Kristiina, Barile, Monica, Blomqvist, Carl, Bonanni, Bernardo, Brenner, Hermann, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Caldes, Trinidad, Claes, Kathleen, Cook, Linda S, Cox, Angela, Cramer, Daniel W, Dansonka-Mieszkowska, Agnieszka, Dennis, Joe, Domchek, Susan M, Dörk, Thilo, Ejlertsen, Bent, Ellis, Steve, Evans, D. Gareth, Fasching, Peter A, Feliubadalo, Lidia, Figueroa, Jonine, Fletcher, Olivia, Foulkes, William D, Fridley, Brooke L, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A, Garber, Judy, Giles, Graham G, González-Neira, Anna, Hall, Per, Hamann, Ute, Harrington, Patricia A, Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Høgdall, Claus K, Hopper, John L, Hulick, Peter J, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Karlan, Beth Y, Knight, Julia A, Kosma, Veli-Matti, De la Hoya, Miguel, Le, Nhu, Li, Jingmei, Long, Jirong, Loud, Jennifer T, Lu, Karen, Lubinski, Jan, Le Marchand, Loic, Massuger, Leon F. A. G, Matsuo, Keitaro, McLean, Catriona, Menon, Usha, Mensenkamp, Arjen R, Milne, Roger L, Mulligan, Anna Marie, Nathanson, Katherine L, Odunsi, Kunle, Pejovic, Tanja, Phelan, Catherine M, Pylkäs, Katri, Rashid, Muhammad Usman, Rhiem, Kerstin, Rossing, Mary Anne, Schildkraut, Joellen M, Shah, Mitul, Shu, Xiao-Ou, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R, Toland, Amanda Ewart, Tworoger, Shelley S, van den Ouweland, Ans M. W, van Doorn, Helena C, van Rensburg, Elizabeth J, Van't Veer, Laura J, Wentzensen, Nicolas, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, French, Juliet D, Couch, Fergus J, Chenevix-Trench, Georgia, Antoniou, Antonis C
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Zusammenfassung: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 × 10 −20), ER-negative BC (P =1.1 × 10 −13), BRCA1 -associated BC (P =7.7 × 10 −16) and triple negative BC (P -diff=2 × 10 −5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P =2 × 10 −3) and ABHD8 (P