2024-03-19T05:09:58Zhttp://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
00925njm 22002777a 4500
dc
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
author
2016-12-06
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.
Oncotarget .2016;7(49):80140-80163.
http://hdl.handle.net/20.500.12105/10724
27792995
10.18632/oncotarget.12818
1949-2553
Oncotarget
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.