The role of genetic breast cancer susceptibility variants as prognostic factors

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Peter A Fasching
  • Paul D P Pharoah
  • Angela Cox
  • Heli Nevanlinna
  • Stig E Bojesen
  • Thomas Karn
  • Annegien Broeks
  • Flora E van Leeuwen
  • Laura J van't Veer
  • Renate Udo
  • Alison M Dunning
  • Dario Greco
  • Kristiina Aittomäki
  • Carl Blomqvist
  • Mitul Shah
  • Nordestgaard, Børge
  • Henrik Flyger
  • John L Hopper
  • Melissa C Southey
  • Carmel Apicella
  • Montserrat Garcia-Closas
  • Mark Sherman
  • Jolanta Lissowska
  • Caroline Seynaeve
  • Petra E A Huijts
  • Rob A E M Tollenaar
  • Argyrios Ziogas
  • Arif B Ekici
  • Claudia Rauh
  • Arto Mannermaa
  • Vesa Kataja
  • Veli-Matti Kosma
  • Jaana M Hartikainen
  • Irene L Andrulis
  • Hilmi Ozcelik
  • Anna-Marie Mulligan
  • Gord Glendon
  • Per Hall
  • Kamila Czene
  • Jianjun Liu
  • Jenny Chang-Claude
  • Shan Wang-Gohrke
  • Ursula Eilber
  • Stefan Nickels
  • Thilo Dörk
  • Maria Schiekel
  • Michael Bremer
  • Tjoung-Won Park-Simon
  • Graham G Giles
  • Gianluca Severi
  • kConFab Investigators
Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. We investigated these and 62 other SNPs for their prognostic relevance. Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. Cox proportional hazard models were used to test the association of these SNPs with overall survival (OS) and BC-specific survival (BCS). For the confirmed loci, we performed an accessory analysis of publicly available gene expression data and the prognosis in a different patient group. One of the 11 SNPs, rs3803662 (TOX3) and none of the 62 candidate/GWAS SNPs were associated with OS and/or BCS at P
OriginalsprogEngelsk
TidsskriftHuman Molecular Genetics
Vol/bind21
Udgave nummer17
Sider (fra-til)3926-39
Antal sider14
ISSN0964-6906
DOI
StatusUdgivet - 2012

ID: 48540317