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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • Montserrat Garcia-Closas
  • Fergus J Couch
  • Sara Lindstrom
  • Kyriaki Michailidou
  • Marjanka K Schmidt
  • Mark N Brook
  • Nick Orr
  • Suhn Kyong Rhie
  • Elio Riboli
  • Heather S Feigelson
  • Loic Le Marchand
  • Julie E Buring
  • Diana Eccles
  • Penelope Miron
  • Peter A Fasching
  • Hiltrud Brauch
  • Jenny Chang-Claude
  • Jane Carpenter
  • Andrew K Godwin
  • Heli Nevanlinna
  • Graham G Giles
  • Angela Cox
  • John L Hopper
  • Manjeet K Bolla
  • Qin Wang
  • Joe Dennis
  • Ed Dicks
  • Will J Howat
  • Nils Schoof
  • Stig E Bojesen
  • Diether Lambrechts
  • Annegien Broeks
  • Irene L Andrulis
  • Pascal Guénel
  • Barbara Burwinkel
  • Elinor J Sawyer
  • Antoinette Hollestelle
  • Olivia Fletcher
  • Robert Winqvist
  • Hermann Brenner
  • Arto Mannermaa
  • Ute Hamann
  • Alfons Meindl
  • Annika Lindblom
  • Wei Zheng
  • Peter Devillee
  • Mark S Goldberg
  • Børge G Nordestgaard
  • Sune F Nielsen
  • Henrik Flyger
  • Gene ENvironmental Interaction and breast CAncer (GENICA) Network
Vis graf over relationer
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind45
Udgave nummer4
Sider (fra-til)392-8, 398e1-2
ISSN1061-4036
DOI
StatusUdgivet - apr. 2013

ID: 38625156