Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

doi:10.1371/journal.pone.0158801

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MARC

Fältnamn	Indikatorer	Metadata
000		09010naa a22021733a 4500
001		19935600
003		SE-LIBR
005		20161208154331.0
007		cr\|\|\|\|\|\|\|\|\|\|\|\|
008		161208s2016 sw \|\|\|\| o \|\|\|\| \|\|eng c
024	7	a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1267882 uri
024	7	a urn:nbn:se:umu:diva-1267882 urn
024	7	a 10.1371/journal.pone.01588012 doi
040		a S
041	0	a eng
042		9 EPLK
100	1	a Vigorito, Elena4 aut
245	1 0	a Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriersh [Elektronisk resurs]
260		c 2016
500		a Published
506	0	a gratis
520		a Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95% CI: 0.68 to 0.79, p-value 2x 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95% CI: 0.59 to 0.80, p-value 1.0 x 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
650	7	a Medical and Health Sciences2 hsv
650	7	a Clinical Medicine2 hsv
650	7	a Cancer and Oncology2 hsv
650	7	a Medicin och hälsovetenskap2 hsv
650	7	a Klinisk medicin2 hsv
650	7	a Cancer och onkologi2 hsv
700	1	a Kuchenbaecker, Karoline B.4 aut
700	1	a Beesley, Jonathan4 aut
700	1	a Adlard, Julian4 aut
700	1	a Agnarsson, Bjarni A.4 aut
700	1	a Andrulis, Irene L.4 aut
700	1	a Arun, Banu K.4 aut
700	1	a Barjhoux, Laure4 aut
700	1	a Belotti, Muriel4 aut
700	1	a Benitez, Javier4 aut
700	1	a Berger, Andreas4 aut
700	1	a Bojesen, Anders4 aut
700	1	a Bonanni, Bernardo4 aut
700	1	a Brewer, Carole4 aut
700	1	a Caldes, Trinidad4 aut
700	1	a Caligo, Maria A.4 aut
700	1	a Campbell, Ian4 aut
700	1	a Chan, Salina B.4 aut
700	1	a Claes, Kathleen B. M.4 aut
700	1	a Cohn, David E.4 aut
700	1	a Cook, Jackie4 aut
700	1	a Daly, Mary B.4 aut
700	1	a Damiola, Francesca4 aut
700	1	a Davidson, Rosemarie4 aut
700	1	a de Pauw, Antoine4 aut
700	1	a Delnatte, Capucine4 aut
700	1	a Diez, Orland4 aut
700	1	a Domchek, Susan M.4 aut
700	1	a Dumont, Martine4 aut
700	1	a Durda, Katarzyna4 aut
700	1	a Dworniczak, Bernd4 aut
700	1	a Easton, Douglas F.4 aut
700	1	a Eccles, Diana4 aut
700	1	a Edwinsdotter Ardnor, Christina4 aut
700	1	a Eeles, Ros4 aut
700	1	a Ejlertsen, Bent4 aut
700	1	a Ellis, Steve4 aut
700	1	a Evans, D. Gareth4 aut
700	1	a Feliubadalo, Lidia4 aut
700	1	a Fostira, Florentia4 aut
700	1	a Foulkes, William D.4 aut
700	1	a Friedman, Eitan4 aut
700	1	a Frost, Debra4 aut
700	1	a Gaddam, Pragna4 aut
700	1	a Ganz, Patricia A.4 aut
700	1	a Garber, Judy4 aut
700	1	a Garcia-Barberan, Vanesa4 aut
700	1	a Gauthier-Villars, Marion4 aut
700	1	a Gehrig, Andrea4 aut
700	1	a Gerdes, Anne-Marie4 aut
700	1	a Giraud, Sophie4 aut
700	1	a Godwin, Andrew K.4 aut
700	1	a Goldgar, David E.4 aut
700	1	a Hake, Christopher R.4 aut
700	1	a Hansen, Thomas V. O.4 aut
700	1	a Healey, Sue4 aut
700	1	a Hodgson, Shirley4 aut
700	1	a Hogervorst, Frans B. L.4 aut
700	1	a Houdayer, Claude4 aut
700	1	a Hulick, Peter J.4 aut
700	1	a Imyanitov, Evgeny N.4 aut
700	1	a Isaacs, Claudine4 aut
700	1	a Izatt, Louise4 aut
700	1	a Izquierdo, Angel4 aut
700	1	a Jacobs, Lauren4 aut
700	1	a Jakubowska, Anna4 aut
700	1	a Janavicius, Ramunas4 aut
700	1	a Jaworska-Bieniek, Katarzyna4 aut
700	1	a Jensen, Uffe Birk4 aut
700	1	a John, Esther M.4 aut
700	1	a Vijai, Joseph4 aut
700	1	a Karlan, Beth Y.4 aut
700	1	a Kast, Karin4 aut
700	1	a Khan, Sofia4 aut
700	1	a Kwong, Ava4 aut
700	1	a Laitman, Yael4 aut
700	1	a Lester, Jenny4 aut
700	1	a Lesueur, Fabienne4 aut
700	1	a Liljegren, Annelie4 aut
700	1	a Lubinski, Jan4 aut
700	1	a Mai, Phuong L.4 aut
700	1	a Manoukian, Siranoush4 aut
700	1	a Mazoyer, Sylvie4 aut
700	1	a Meindl, Alfons4 aut
700	1	a Mensenkamp, Arjen R.4 aut
700	1	a Montagna, Marco4 aut
700	1	a Nathanson, Katherine L.4 aut
700	1	a Neuhausen, Susan L.4 aut
700	1	a Nevanlinna, Heli4 aut
700	1	a Niederacher, Dieter4 aut
700	1	a Olah, Edith4 aut
700	1	a Olopade, Olufunmilayo I.4 aut
700	1	a Ong, Kai-ren4 aut
700	1	a Osorio, Ana4 aut
700	1	a Park, Sue Kyung4 aut
700	1	a Paulsson-Karlsson, Ylva4 aut
700	1	a Pedersen, Inge Sokilde4 aut
700	1	a Peissel, Bernard4 aut
700	1	a Peterlongo, Paolo4 aut
700	1	a Pfeiler, Georg4 aut
700	1	a Phelan, Catherine M.4 aut
700	1	a Piedmonte, Marion4 aut
700	1	a Poppe, Bruce4 aut
700	1	a Angel Pujana, Miquel4 aut
700	1	a Radice, Paolo4 aut
700	1	a Rennert, Gad4 aut
700	1	a Rodriguez, Gustavo C.4 aut
700	1	a Rookus, Matti A.4 aut
700	1	a Ross, Eric A.4 aut
700	1	a Schmutzler, Rita Katharina4 aut
700	1	a Simard, Jacques4 aut
700	1	a Singer, Christian F.4 aut
700	1	a Slavin, Thomas P.4 aut
700	1	a Soucy, Penny4 aut
700	1	a Southey, Melissa4 aut
700	1	a Steinemann, Doris4 aut
700	1	a Stoppa-Lyonnet, Dominique4 aut
700	1	a Sukiennicki, Grzegorz4 aut
700	1	a Sutter, Christian4 aut
700	1	a Szabo, Csilla I.4 aut
700	1	a Tea, Muy-Kheng4 aut
700	1	a Teixeira, Manuel R.4 aut
700	1	a Teo, Soo-Hwang4 aut
700	1	a Terry, Mary Beth4 aut
700	1	a Thomassen, Mads4 aut
700	1	a Tibiletti, Maria Grazia4 aut
700	1	a Tihomirova, Laima4 aut
700	1	a Tognazzo, Silvia4 aut
700	1	a van Rensburg, Elizabeth J.4 aut
700	1	a Varesco, Liliana4 aut
700	1	a Varon-Mateeva, Raymonda4 aut
700	1	a Vratimos, Athanassios4 aut
700	1	a Weitzel, Jeffrey N.4 aut
700	1	a McGuffog, Lesley4 aut
700	1	a Kirk, Judy4 aut
700	1	a Toland, Amanda Ewart4 aut
700	1	a Hamann, Ute4 aut
700	1	a Lindor, Noralane4 aut
700	1	a Ramus, Susan J.4 aut
700	1	a Greene, Mark H.4 aut
700	1	a Couch, Fergus J.4 aut
700	1	a Offit, Kenneth4 aut
700	1	a Pharoah, Paul D. P.4 aut
700	1	a Chenevix-Trench, Georgia4 aut
700	1	a Antoniou, Antonis C.4 aut
710	1 2	a Umeå universitetb Medicinska fakulteten4 pbl0 268483
772	1 8	i channel recordw 18813935
773	0 8	i Värdpublikationt PLoS ONEg 11 7x 1932-6203
856	4 0	u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126788
856	4 0	u http://dx.doi.org/10.1371/journal.pone.0158801
856	4 0	u http://umu.diva-portal.org/smash/get/diva2:1048726/FULLTEXT01
910	2 s	6 710a Umeå universitet.b Medicinsk-odontologiska fakultetenu Umeå universitet.b Medicinska fakulteten
910	2 s	6 710a Medicinska fakulteten vid Umeå universitetu Umeå universitet.b Medicinska fakulteten
841		5 APISa x ab 161208\|\|0000\|\|\|\|\|001\|\|\|\|\|\|000000e 1
024	7	5 APISa urn:nbn:se:umu:diva-1267882 urn
852		5 APISb APIS
856	4 0	5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126788

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By the author/editor: Vigorito, Elena; Kuchenbaecker, K ...; Beesley, Jonatha ...; Adlard, Julian; Agnarsson, Bjarn ...; Andrulis, Irene ...; show more...; Arun, Banu K.; Barjhoux, Laure; Belotti, Muriel; Benitez, Javier; Berger, Andreas; Bojesen, Anders; Bonanni, Bernard ...; Brewer, Carole; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Chan, Salina B.; Claes, Kathleen ...; Cohn, David E.; Cook, Jackie; Daly, Mary B.; Damiola, Frances ...; Davidson, Rosema ...; de Pauw, Antoine; Delnatte, Capuci ...; Diez, Orland; Domchek, Susan M ...; Dumont, Martine; Durda, Katarzyna; Dworniczak, Bern ...; Easton, Douglas ...; Eccles, Diana; Edwinsdotter Ard ...; Eeles, Ros; Ejlertsen, Bent; Ellis, Steve; Evans, D. Gareth; Feliubadalo, Lid ...; Fostira, Florent ...; Foulkes, William ...; Friedman, Eitan; Frost, Debra; Gaddam, Pragna; Ganz, Patricia A ...; Garber, Judy; Garcia-Barberan, ...; Gauthier-Villars ...; Gehrig, Andrea; Gerdes, Anne-Mar ...; Giraud, Sophie; Godwin, Andrew K ...; Goldgar, David E ...; Hake, Christophe ...; Hansen, Thomas V ...; Healey, Sue; Hodgson, Shirley; Hogervorst, Fran ...; Houdayer, Claude; Hulick, Peter J.; Imyanitov, Evgen ...; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jacobs, Lauren; Jakubowska, Anna; Janavicius, Ramu ...; Jaworska-Bieniek ...; Jensen, Uffe Bir ...; John, Esther M.; Vijai, Joseph; Karlan, Beth Y.; Kast, Karin; Khan, Sofia; Kwong, Ava; Laitman, Yael; Lester, Jenny; Lesueur, Fabienn ...; Liljegren, Annel ...; Lubinski, Jan; Mai, Phuong L.; Manoukian, Siran ...; Mazoyer, Sylvie; Meindl, Alfons; Mensenkamp, Arje ...; Montagna, Marco; Nathanson, Kathe ...; Neuhausen, Susan ...; Nevanlinna, Heli; Niederacher, Die ...; Olah, Edith; Olopade, Olufunm ...; Ong, Kai-ren; Osorio, Ana; Park, Sue Kyung; Paulsson-Karlsso ...; Pedersen, Inge S ...; Peissel, Bernard; Peterlongo, Paol ...; Pfeiler, Georg; Phelan, Catherin ...; Piedmonte, Mario ...; Poppe, Bruce; Angel Pujana, Mi ...; Radice, Paolo; Rennert, Gad; Rodriguez, Gusta ...; Rookus, Matti A.; Ross, Eric A.; Schmutzler, Rita ...; Simard, Jacques; Singer, Christia ...; Slavin, Thomas P ...; Soucy, Penny; Southey, Melissa; Steinemann, Dori ...; Stoppa-Lyonnet, ...; Sukiennicki, Grz ...; Sutter, Christia ...; Szabo, Csilla I.; Tea, Muy-Kheng; Teixeira, Manuel ...; Teo, Soo-Hwang; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria ...; Tihomirova, Laim ...; Tognazzo, Silvia; van Rensburg, El ...; Varesco, Liliana; Varon-Mateeva, R ...; Vratimos, Athana ...; Weitzel, Jeffrey ...; McGuffog, Lesley; Kirk, Judy; Toland, Amanda E ...; Hamann, Ute; Lindor, Noralane; Ramus, Susan J.; Greene, Mark H.; Couch, Fergus J.; Offit, Kenneth; Pharoah, Paul D. ...; Chenevix-Trench, ...; Antoniou, Antoni ...; show less...

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