2024-03-19T13:32:09Zhttp://repisalud.isciii.es/oai/requestoai:repisalud.isciii.es:20.500.12105/107242023-10-11T11:47:12Zcom_20.500.12105_2174com_20.500.12105_2051com_20.500.12105_2173col_20.500.12105_2175
Repisalud
author
Hamdi, Yosr
author
Soucy, Penny
author
Adoue, Véronique
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Michailidou, Kyriaki
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Canisius, Sander
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Lemaçon, Audrey
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Droit, Arnaud
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Andrulis, Irene L
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Anton-Culver, Hoda
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Arndt, Volker
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Baynes, Caroline
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Blomqvist, Carl
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Bogdanova, Natalia V
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Bojesen, Stig E
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Bolla, Manjeet K
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Bonanni, Bernardo
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Borresen-Dale, Anne-Lise
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Brand, Judith S
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Brauch, Hiltrud
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Brenner, Hermann
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Broeks, Annegien
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Burwinkel, Barbara
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Chang-Claude, Jenny
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Couch, Fergus J
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Cox, Angela
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Cross, Simon S
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Czene, Kamila
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Darabi, Hatef
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Dennis, Joe
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Devilee, Peter
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Dörk, Thilo
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Dos-Santos-Silva, Isabel
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Eriksson, Mikael
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Fasching, Peter A
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Figueroa, Jonine
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Flyger, Henrik
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García-Closas, Montserrat
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Giles, Graham G
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Goldberg, Mark S
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González-Neira, Anna
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Grenaker-Alnæs, Grethe
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Guénel, Pascal
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Haeberle, Lothar
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Haiman, Christopher A
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Hamann, Ute
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Hallberg, Emily
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Hooning, Maartje J
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Hopper, John L
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Jakubowska, Anna
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Jones, Michael
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Kabisch, Maria
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Kataja, Vesa
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Lambrechts, Diether
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Le Marchand, Loic
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Lindblom, Annika
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Lubinski, Jan
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Mannermaa, Arto
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Maranian, Mel
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Margolin, Sara
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Marme, Frederik
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Milne, Roger L
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Neuhausen, Susan L
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Nevanlinna, Heli
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Neven, Patrick
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Olswold, Curtis
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Peto, Julian
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Plaseska-Karanfilska, Dijana
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Pylkäs, Katri
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Radice, Paolo
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Rudolph, Anja
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Sawyer, Elinor J
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Schmidt, Marjanka K
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Shu, Xiao-Ou
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Southey, Melissa C
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Swerdlow, Anthony
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Tollenaar, Rob A E M
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Tomlinson, Ian
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Torres, Diana
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Truong, Thérèse
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Vachon, Celine
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Van Den Ouweland, Ans M W
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Wang, Qin
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Winqvist, Robert
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Zheng, Wei
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Benitez, Javier
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Chenevix-Trench, Georgia
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Dunning, Alison M
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Pharoah, Paul D P
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Kristensen, Vessela
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Hall, Per
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Easton, Douglas F
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Pastinen, Tomi
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Nord, Silje
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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.
http://hdl.handle.net/20.500.12105/10724
27792995
10.18632/oncotarget.12818
1949-2553
Oncotarget
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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