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Region Hovedstaden - en del af Københavns Universitetshospital
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Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • Yosr Hamdi
  • Penny Soucy
  • Véronique Adoue
  • Kyriaki Michailidou
  • Sander Canisius
  • Audrey Lemaçon
  • Arnaud Droit
  • Irene L Andrulis
  • Hoda Anton-Culver
  • Volker Arndt
  • Caroline Baynes
  • Carl Blomqvist
  • Natalia V Bogdanova
  • Stig E Bojesen
  • Manjeet K Bolla
  • Bernardo Bonanni
  • Anne-Lise Borresen-Dale
  • Judith S Brand
  • Hiltrud Brauch
  • Hermann Brenner
  • Annegien Broeks
  • Barbara Burwinkel
  • Jenny Chang-Claude
  • Nbcs Collaborators
  • Fergus J Couch
  • Angela Cox
  • Simon S Cross
  • Kamila Czene
  • Hatef Darabi
  • Joe Dennis
  • Peter Devilee
  • Thilo Dörk
  • Isabel Dos-Santos-Silva
  • Mikael Eriksson
  • Peter A Fasching
  • Jonine Figueroa
  • Henrik Flyger
  • Montserrat García-Closas
  • Graham G Giles
  • Mark S Goldberg
  • Anna González-Neira
  • Grethe Grenaker-Alnæs
  • Pascal Guénel
  • Lothar Haeberle
  • Christopher A Haiman
  • Ute Hamann
  • Emily Hallberg
  • Maartje J Hooning
  • John L Hopper
  • Anna Jakubowska
  • Michael Jones
  • Maria Kabisch
  • Vesa Kataja
  • Diether Lambrechts
  • Loic Le Marchand
  • Annika Lindblom
  • Jan Lubinski
  • Arto Mannermaa
  • Mel Maranian
  • Sara Margolin
  • Frederik Marme
  • Roger L Milne
  • Susan L Neuhausen
  • Heli Nevanlinna
  • Patrick Neven
  • Curtis Olswold
  • Julian Peto
  • Dijana Plaseska-Karanfilska
  • Katri Pylkäs
  • Paolo Radice
  • Anja Rudolph
  • Elinor J Sawyer
  • Marjanka K Schmidt
  • Xiao-Ou Shu
  • Melissa C Southey
  • Anthony Swerdlow
  • Rob A E M Tollenaar
  • Ian Tomlinson
  • Diana Torres
  • Thérèse Truong
  • Celine Vachon
  • Ans M W Van Den Ouweland
  • Qin Wang
  • Robert Winqvist
  • kConFab/Aocs Investigators
  • Wei Zheng
  • Javier Benitez
  • Georgia Chenevix-Trench
  • Alison M Dunning
  • Paul D P Pharoah
  • Vessela Kristensen
  • Per Hall
  • Douglas F Easton
  • Tomi Pastinen
  • Silje Nord
  • Jacques Simard
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftOncotarget
Vol/bind7
Udgave nummer49
Sider (fra-til)80140-80163
ISSN1949-2553
DOI
StatusUdgivet - 21 okt. 2016

ID: 49426105