title: Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
abstract: BACKGROUND
  In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.
  
  
  METHODS
  We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach.
  
  
  RESULTS
  We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers.
  
  
  CONCLUSIONS
  This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
authors.affiliation: Human Genetics Group, Spanish National Cancer Research Centre, C/Melchor Fernández Almagro 3, 28029 Madrid, Spain. aosorio@cnio.es
authors.forename: A
authors.initials: A
authors.lastname: Osorio
authors.forename: R L
authors.initials: RL
authors.lastname: Milne
authors.forename: G
authors.initials: G
authors.lastname: Pita
authors.forename: P
authors.initials: P
authors.lastname: Peterlongo
authors.forename: T
authors.initials: T
authors.lastname: Heikkinen
authors.forename: J
authors.initials: J
authors.lastname: Simard
authors.forename: G
authors.initials: G
authors.lastname: Chenevix-Trench
authors.forename: A B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: J
authors.initials: J
authors.lastname: Beesley
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Healey
authors.forename: S L
authors.initials: SL
authors.lastname: Neuhausen
authors.forename: Y C
authors.initials: YC
authors.lastname: Ding
authors.forename: F J
authors.initials: FJ
authors.lastname: Couch
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: N
authors.initials: N
authors.lastname: Lindor
authors.forename: S
authors.initials: S
authors.lastname: Manoukian
authors.forename: M
authors.initials: M
authors.lastname: Barile
authors.forename: A
authors.initials: A
authors.lastname: Viel
authors.forename: L
authors.initials: L
authors.lastname: Tizzoni
authors.forename: C I
authors.initials: CI
authors.lastname: Szabo
authors.forename: L
authors.initials: L
authors.lastname: Foretova
authors.forename: M
authors.initials: M
authors.lastname: Zikan
authors.forename: K
authors.initials: K
authors.lastname: Claes
authors.forename: M H
authors.initials: MH
authors.lastname: Greene
authors.forename: P
authors.initials: P
authors.lastname: Mai
authors.forename: G
authors.initials: G
authors.lastname: Rennert
authors.forename: F
authors.initials: F
authors.lastname: Lejbkowicz
authors.forename: O
authors.initials: O
authors.lastname: Barnett-Griness
authors.forename: I L
authors.initials: IL
authors.lastname: Andrulis
authors.forename: H
authors.initials: H
authors.lastname: Ozcelik
authors.forename: N
authors.initials: N
authors.lastname: Weerasooriya
authors.forename: A-M
authors.initials: AM
authors.lastname: Gerdes
authors.forename: M
authors.initials: M
authors.lastname: Thomassen
authors.forename: D G
authors.initials: DG
authors.lastname: Cruger
authors.forename: M A
authors.initials: MA
authors.lastname: Caligo
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: B
authors.initials: B
authors.lastname: Kaufman
authors.forename: Y
authors.initials: Y
authors.lastname: Laitman
authors.forename: S
authors.initials: S
authors.lastname: Cohen
authors.forename: T
authors.initials: T
authors.lastname: Kontorovich
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: E
authors.initials: E
authors.lastname: Dagan
authors.forename: H
authors.initials: H
authors.lastname: Jernström
authors.forename: M S
authors.initials: MS
authors.lastname: Askmalm
authors.forename: B
authors.initials: B
authors.lastname: Arver
authors.forename: B
authors.initials: B
authors.lastname: Malmer
authors.forename: S M
authors.initials: SM
authors.lastname: Domchek
authors.forename: K L
authors.initials: KL
authors.lastname: Nathanson
authors.forename: J
authors.initials: J
authors.lastname: Brunet
authors.forename: T
authors.initials: T
authors.lastname: Ramón Y Cajal
authors.forename: D
authors.initials: D
authors.lastname: Yannoukakos
authors.forename: U
authors.initials: U
authors.lastname: Hamann
authors.forename: F B L
authors.initials: FB
authors.lastname: Hogervorst
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: E B
authors.initials: EB
authors.lastname: Gómez García
authors.forename: J T
authors.initials: JT
authors.lastname: Wijnen
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: D F
authors.initials: DF
authors.lastname: Easton
authors.forename: S
authors.initials: S
authors.lastname: Peock
authors.forename: M
authors.initials: M
authors.lastname: Cook
authors.forename: C T
authors.initials: CT
authors.lastname: Oliver
authors.forename: D
authors.initials: D
authors.lastname: Frost
authors.forename: C
authors.initials: C
authors.lastname: Luccarini
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: F
authors.initials: F
authors.lastname: Lalloo
authors.forename: R
authors.initials: R
authors.lastname: Eeles
authors.forename: G
authors.initials: G
authors.lastname: Pichert
authors.forename: J
authors.initials: J
authors.lastname: Cook
authors.forename: S
authors.initials: S
authors.lastname: Hodgson
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: F
authors.initials: F
authors.lastname: Douglas
authors.forename: A K
authors.initials: AK
authors.lastname: Godwin
authors.forename: O M
authors.initials: OM
authors.lastname: Sinilnikova
authors.forename: L
authors.initials: L
authors.lastname: Barjhoux
authors.forename: D
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.forename: V
authors.initials: V
authors.lastname: Moncoutier
authors.forename: S
authors.initials: S
authors.lastname: Giraud
authors.forename: C
authors.initials: C
authors.lastname: Cassini
authors.forename: L
authors.initials: L
authors.lastname: Olivier-Faivre
authors.forename: F
authors.initials: F
authors.lastname: Révillion
authors.forename: J-P
authors.initials: JP
authors.lastname: Peyrat
authors.forename: D
authors.initials: D
authors.lastname: Muller
authors.forename: J-P
authors.initials: JP
authors.lastname: Fricker
authors.forename: H T
authors.initials: HT
authors.lastname: Lynch
authors.forename: E M
authors.initials: EM
authors.lastname: John
authors.forename: S
authors.initials: S
authors.lastname: Buys
authors.forename: M
authors.initials: M
authors.lastname: Daly
authors.forename: J L
authors.initials: JL
authors.lastname: Hopper
authors.forename: M B
authors.initials: MB
authors.lastname: Terry
authors.forename: A
authors.initials: A
authors.lastname: Miron
authors.forename: Y
authors.initials: Y
authors.lastname: Yassin
authors.forename: D
authors.initials: D
authors.lastname: Goldgar
authors.forename: C F
authors.initials: CF
authors.lastname: Singer
authors.forename: D
authors.initials: D
authors.lastname: Gschwantler-Kaulich
authors.forename: G
authors.initials: G
authors.lastname: Pfeiler
authors.forename: A-C
authors.initials: AC
authors.lastname: Spiess
authors.forename: Thomas V O
authors.initials: TV
authors.lastname: Hansen
authors.forename: O T
authors.initials: OT
authors.lastname: Johannsson
authors.forename: T
authors.initials: T
authors.lastname: Kirchhoff
authors.forename: K
authors.initials: K
authors.lastname: Offit
authors.forename: K
authors.initials: K
authors.lastname: Kosarin
authors.forename: M
authors.initials: M
authors.lastname: Piedmonte
authors.forename: G C
authors.initials: GC
authors.lastname: Rodriguez
authors.forename: K
authors.initials: K
authors.lastname: Wakeley
authors.forename: J F
authors.initials: JF
authors.lastname: Boggess
authors.forename: J
authors.initials: J
authors.lastname: Basil
authors.forename: P E
authors.initials: PE
authors.lastname: Schwartz
authors.forename: S V
authors.initials: SV
authors.lastname: Blank
authors.forename: A E
authors.initials: AE
authors.lastname: Toland
authors.forename: M
authors.initials: M
authors.lastname: Montagna
authors.forename: C
authors.initials: C
authors.lastname: Casella
authors.forename: E N
authors.initials: EN
authors.lastname: Imyanitov
authors.forename: A
authors.initials: A
authors.lastname: Allavena
authors.forename: R K
authors.initials: RK
authors.lastname: Schmutzler
authors.forename: B
authors.initials: B
authors.lastname: Versmold
authors.forename: C
authors.initials: C
authors.lastname: Engel
authors.forename: A
authors.initials: A
authors.lastname: Meindl
authors.forename: N
authors.initials: N
authors.lastname: Ditsch
authors.forename: N
authors.initials: N
authors.lastname: Arnold
authors.forename: D
authors.initials: D
authors.lastname: Niederacher
authors.forename: H
authors.initials: H
authors.lastname: Deissler
authors.forename: B
authors.initials: B
authors.lastname: Fiebig
authors.forename: R
authors.initials: R
authors.lastname: Varon-Mateeva
authors.forename: D
authors.initials: D
authors.lastname: Schaefer
authors.forename: U G
authors.initials: UG
authors.lastname: Froster
authors.forename: T
authors.initials: T
authors.lastname: Caldes
authors.forename: M
authors.initials: M
authors.lastname: de la Hoya
authors.forename: L
authors.initials: L
authors.lastname: McGuffog
authors.forename: A C
authors.initials: AC
authors.lastname: Antoniou
authors.forename: H
authors.initials: H
authors.lastname: Nevanlinna
authors.forename: P
authors.initials: P
authors.lastname: Radice
authors.forename: J
authors.initials: J
authors.lastname: Benítez
mesh_terms: D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies
chemical_list: D004268:DNA-Binding Proteins; C095888:xeroderma pigmentosum group F protein