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Genome-wide association analysis identifies three new breast cancer susceptibility loci

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  • Maya Ghoussaini
  • Olivia Fletcher
  • Kyriaki Michailidou
  • Clare Turnbull
  • Marjanka K Schmidt
  • Ed Dicks
  • Joe Dennis
  • Qin Wang
  • Manjeet K Humphreys
  • Craig Luccarini
  • Caroline Baynes
  • Don Conroy
  • Melanie Maranian
  • Shahana Ahmed
  • Kristy Driver
  • Nichola Johnson
  • Nicholas Orr
  • Isabel dos Santos Silva
  • Quinten Waisfisz
  • Hanne Meijers-Heijboer
  • Andre G Uitterlinden
  • Fernando Rivadeneira
  • Per Hall
  • Kamila Czene
  • Astrid Irwanto
  • Jianjun Liu
  • Heli Nevanlinna
  • Kristiina Aittomäki
  • Carl Blomqvist
  • Alfons Meindl
  • Rita K Schmutzler
  • Bertram Müller-Myhsok
  • Peter Lichtner
  • Jenny Chang-Claude
  • Rebecca Hein
  • Stefan Nickels
  • Dieter Flesch-Janys
  • Helen Tsimiklis
  • Enes Makalic
  • Daniel Schmidt
  • Minh Bui
  • John L Hopper
  • Carmel Apicella
  • Daniel J Park
  • Melissa Southey
  • David J Hunter
  • Stig E Bojesen
  • Børge G Nordestgaard
  • Sune F Nielsen
  • Henrik Flyger
  • Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON)
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Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
Original languageEnglish
JournalNature Genetics
Volume44
Issue number3
Pages (from-to)312-8
Number of pages7
ISSN1061-4036
DOIs
Publication statusPublished - 2012

    Research areas

  • Breast Neoplasms, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 21, European Continental Ancestry Group, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Polymorphism, Single Nucleotide, Principal Component Analysis

ID: 36738647