2026-07-25T15:24:48Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/107242025-05-29T17:12:22Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Hamdi, Yosr author Soucy, Penny author Adoue, Véronique author Michailidou, Kyriaki author Canisius, Sander author Lemaçon, Audrey author Droit, Arnaud author Andrulis, Irene L author Anton-Culver, Hoda author Arndt, Volker author Baynes, Caroline author Blomqvist, Carl author Bogdanova, Natalia V author Bojesen, Stig E author Bolla, Manjeet K author Bonanni, Bernardo author Borresen-Dale, Anne-Lise author Brand, Judith S author Brauch, Hiltrud author Brenner, Hermann author Broeks, Annegien author Burwinkel, Barbara author Chang-Claude, Jenny author Couch, Fergus J author Cox, Angela author Cross, Simon S author Czene, Kamila author Darabi, Hatef author Dennis, Joe author Devilee, Peter author Dörk, Thilo author Dos-Santos-Silva, Isabel author Eriksson, Mikael author Fasching, Peter A author Figueroa, Jonine author Flyger, Henrik author García-Closas, Montserrat author Giles, Graham G author Goldberg, Mark S author González-Neira, Anna author Grenaker-Alnæs, Grethe author Guénel, Pascal author Haeberle, Lothar author Haiman, Christopher A author Hamann, Ute author Hallberg, Emily author Hooning, Maartje J author Hopper, John L author Jakubowska, Anna author Jones, Michael author Kabisch, Maria author Kataja, Vesa author Lambrechts, Diether author Le Marchand, Loic author Lindblom, Annika author Lubinski, Jan author Mannermaa, Arto author Maranian, Mel author Margolin, Sara author Marme, Frederik author Milne, Roger L author Neuhausen, Susan L author Nevanlinna, Heli author Neven, Patrick author Olswold, Curtis author Peto, Julian author Plaseska-Karanfilska, Dijana author Pylkäs, Katri author Radice, Paolo author Rudolph, Anja author Sawyer, Elinor J author Schmidt, Marjanka K author Shu, Xiao-Ou author Southey, Melissa C author Swerdlow, Anthony author Tollenaar, Rob A E M author Tomlinson, Ian author Torres, Diana author Truong, Thérèse author Vachon, Celine author Van Den Ouweland, Ans M W author Wang, Qin author Winqvist, Robert author Zheng, Wei author Benitez, Javier author Chenevix-Trench, Georgia author Dunning, Alison M author Pharoah, Paul D P author Kristensen, Vessela author Hall, Per author Easton, Douglas F author Pastinen, Tomi author Nord, Silje author Simard, Jacques funder Canadian Institutes of Health Research funder Norwegian Regional Health Authorities funder Cancer Research UK (Reino Unido) funder Unión Europea funder United States Department of Health and Human Services funder Post-cancer GWAS Initiative funder Dutch Cancer Society (Holanda) funder Instituto de Salud Carlos III funder California Breast Cancer Research Program funder California Department of Public Health funder Federal Ministry of Education & Research (Alemania) funder Finlands Akademi (Finlandia) funder United States Army Medical Research and Development Command funder Stichting tegen Kanker funder Deutsche Krebshilfe funder Fondazione IRCCS. Istituto Nazionale dei Tumori funder National Health and Medical Research Council (Australia) funder Ministère du Développement économique, de Innovation et de Exportation (Canadá) funder The Research Council of Norway funder Southern and Eastern Norway Regional Health Authority funder Norwegian Cancer Society funder Biobanking and BioMolecular resources Research Infrastructure (Países Bajos) funder Yorkshire Cancer Research funder BRL (Basic Research Laboratory) program through the National Research Foundation of Korea - Ministry of Education, Science and Technology funder Agency for Science, Technology and Research (Singapur) funder NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos) 2020-07-09T14:18:04Z 2020-07-09T14:18:04Z 2016-12-06 Oncotarget .2016;7(49):80140-80163. 10.18632/oncotarget.12818 1949-2553 Oncotarget 27792995 http://hdl.handle.net/20.500.12105/10724 There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas. eng GENOME-WIDE ASSOCIATION; BRCA1 MUTATION CARRIERS DNA-DAMAGE RESPONSE OVARIAN-CANCER COMMON VARIANTS MISSENSE SUBSTITUTIONS CONFER SUSCEPTIBILITY FUNCTIONAL VARIANTS ANALYSES REVEAL HUMAN-CELLS Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. journal article 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 URL https://repisalud.isciii.es/bitstreams/f0d5316f-3f8f-41a5-9840-d8047cf9ff21/download File MD5 754fe47991da4ac680fc38337a3c5d0a 5881088 application/pdf Associationofbreastcancerrisk_2016.pdf URL https://repisalud.isciii.es/bitstreams/f4097c5a-cb04-4d5a-b2bd-7cd38e574c97/download File MD5 2ea2cae9e8fc31e81470296a0cf769e1 1332402 application/zip Associationofbreastcancerrisk_2016.7z