Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B; Pastinen, Tomi; Droit, Arnaud; Lemaçon, Audrey; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Azzollini, Jacopo; Bane, Anita; Barjhoux, Laure; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Blok, Marinus J; Bobolis, Kristie; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caligo, Maria A; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Daly, Mary B; Damiola, Francesca; Davidson, Rosemarie; De la Hoya, Miguel; De Leeneer, Kim; Diez, Orland; Ding, Yuan Chun; Dolcetti, Riccardo; Domchek, Susan M; Dorfling, Cecilia M; Eccles, Diana; Eeles, Ros; Einbeigi, Zakaria; Ejlertsen, Bent; Engel, Christoph; Gareth Evans, D; Feliubadalo, Lidia; Foretova, Lenka; Fostira, Florentia; Foulkes, William D; Fountzilas, George; Friedman, Eitan; Frost, Debra; Ganschow, Pamela; Ganz, Patricia A; Garber, Judy; Gayther, Simon A; Gerdes, Anne-Marie; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gronwald, Jacek; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V O; Hart, Steven; Hays, John L; Hogervorst, Frans B L; Hulick, Peter J; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Joseph, Vijai; Just, Walter; Kaczmarek, Katarzyna; Karlan, Beth Y; Kets, Carolien M; Kirk, Judy; Kriege, Mieke; Laitman, Yael; Laurent, Maïté; Lazaro, Conxi; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Loman, Niklas; Loud, Jennifer T; Manoukian, Siranoush; Mariani, Milena; Mazoyer, Sylvie; McGuffog, Lesley; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Miller, Austin; Montagna, Marco; Mulligan, Anna Marie; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nussbaum, Robert L; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; Oosterwijk, Jan C; Osorio, Ana; Papi, Laura; Park, Sue Kyung; Pedersen, Inge Sokilde; Peissel, Bernard; Segura, Pedro Perez; Peterlongo, Paolo; Phelan, Catherine M; Radice, Paolo; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Richardson, Andrea; Robson, Mark; Rodriguez, Gustavo C; Rookus, Matti A; Schmutzler, Rita Katharina; Sevenet, Nicolas; Shah, Payal D; Singer, Christian F; Slavin, Thomas P; Snape, Katie; Sokolowska, Johanna; Sønderstrup, Ida Marie Heeholm; Southey, Melissa; Spurdle, Amanda B; Stadler, Zsofia; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Sutter, Christian; Tan, Yen; Tea, Muy-Kheng; Teixeira, Manuel R; Teulé, Alex; Teo, Soo-Hwang; Terry, Mary Beth; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tung, Nadine; van den Ouweland, Ans M W; van der Luijt, Rob B; van Engelen, Klaartje; van Rensburg, Elizabeth J; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Wijnen, Juul T; Rebbeck, Timothy; Chenevix-Trench, Georgia; Offit, Kenneth; Couch, Fergus J; Nord, Silje; Easton, Douglas F; Antoniou, Antonis C; Simard, Jacques

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/33541

Title:	Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Authors:	Hamdi, Yosr Soucy, Penny Kuchenbaeker, Karoline B Pastinen, Tomi Droit, Arnaud Lemaçon, Audrey Adlard, Julian Aittomäki, Kristiina Andrulis, Irene L Arason, Adalgeir Arnold, Norbert Arun, Banu K Azzollini, Jacopo Bane, Anita Barjhoux, Laure Barrowdale, Daniel Benitez, Javier Berthet, Pascaline Blok, Marinus J Bobolis, Kristie Bonadona, Valérie Bonanni, Bernardo Bradbury, Angela R Brewer, Carole Buecher, Bruno Buys, Saundra S Caligo, Maria A Chiquette, Jocelyne Chung, Wendy K Claes, Kathleen B M Daly, Mary B Damiola, Francesca Davidson, Rosemarie De la Hoya, Miguel De Leeneer, Kim Diez, Orland Ding, Yuan Chun Dolcetti, Riccardo Domchek, Susan M Dorfling, Cecilia M Eccles, Diana Eeles, Ros Einbeigi, Zakaria Ejlertsen, Bent Engel, Christoph Gareth Evans, D Feliubadalo, Lidia Foretova, Lenka Fostira, Florentia Foulkes, William D Fountzilas, George Friedman, Eitan Frost, Debra Ganschow, Pamela Ganz, Patricia A Garber, Judy Gayther, Simon A Gerdes, Anne-Marie Glendon, Gord Godwin, Andrew K Goldgar, David E Greene, Mark H Gronwald, Jacek Hahnen, Eric Hamann, Ute Hansen, Thomas V O Hart, Steven Hays, John L Hogervorst, Frans B L Hulick, Peter J Imyanitov, Evgeny N Isaacs, Claudine Izatt, Louise Jakubowska, Anna James, Paul Janavicius, Ramunas Jensen, Uffe Birk John, Esther M Joseph, Vijai Just, Walter Kaczmarek, Katarzyna Karlan, Beth Y Kets, Carolien M Kirk, Judy Kriege, Mieke Laitman, Yael Laurent, Maïté Lazaro, Conxi Leslie, Goska Lester, Jenny Lesueur, Fabienne Liljegren, Annelie Loman, Niklas Loud, Jennifer T Manoukian, Siranoush Mariani, Milena Mazoyer, Sylvie McGuffog, Lesley Meijers-Heijboer, Hanne E J Meindl, Alfons Miller, Austin Montagna, Marco Mulligan, Anna Marie Nathanson, Katherine L Neuhausen, Susan L Nevanlinna, Heli Nussbaum, Robert L Olah, Edith Olopade, Olufunmilayo I Ong, Kai-Ren Oosterwijk, Jan C Osorio, Ana Papi, Laura Park, Sue Kyung Pedersen, Inge Sokilde Peissel, Bernard Segura, Pedro Perez Peterlongo, Paolo Phelan, Catherine M Radice, Paolo Rantala, Johanna Rappaport-Fuerhauser, Christine Rennert, Gad Richardson, Andrea Robson, Mark Rodriguez, Gustavo C Rookus, Matti A Schmutzler, Rita Katharina Sevenet, Nicolas Shah, Payal D Singer, Christian F Slavin, Thomas P Snape, Katie Sokolowska, Johanna Sønderstrup, Ida Marie Heeholm Southey, Melissa Spurdle, Amanda B Stadler, Zsofia Stoppa-Lyonnet, Dominique Sukiennicki, Grzegorz Sutter, Christian Tan, Yen Tea, Muy-Kheng Teixeira, Manuel R Teulé, Alex Teo, Soo-Hwang Terry, Mary Beth Thomassen, Mads Tihomirova, Laima Tischkowitz, Marc Tognazzo, Silvia Toland, Amanda Ewart Tung, Nadine van den Ouweland, Ans M W van der Luijt, Rob B van Engelen, Klaartje van Rensburg, Elizabeth J Varon-Mateeva, Raymonda Wappenschmidt, Barbara Wijnen, Juul T Rebbeck, Timothy Chenevix-Trench, Georgia Offit, Kenneth Couch, Fergus J Nord, Silje Easton, Douglas F Antoniou, Antonis C Simard, Jacques View more
Keywords:	BRCA1 and BRCA2 mutation carriers Breast cancer Cis-regulatory variants Differential allelic expression Genetic modifiers Genetic susceptibility View more
Mesh:	Biomarkers, Tumor Breast Neoplasms Chromosomes, Human, Pair 11 Female Gene Expression Genetic Predisposition to Disease Genetic Variation Humans Quantitative Trait Loci Risk Alleles Genes, BRCA1 Genes, BRCA2 Heterozygote Mutation View more
Issue Date:	2017
Citation:	Breast Cancer Res. Treat..2017 01;(161)1:117-134
Abstract:	Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.
PMID:	27796716
URI:	https://hdl.handle.net/20.500.12530/33541
Rights:	openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos

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