title: Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk.
abstract: A substantial proportion of the familial risk of breast cancer may be due to genetic variants, each contributing a small effect. The protein encoded by ERCC2 is a key enzyme involved in nucleotide excision repair, in which gene defects could lead to cancer prone syndromes such as Xeroderma pigmentosum D. We have examined the association between single nucleotide polymorphisms in the ERCC2 gene and the incidence of invasive breast cancer in three case-control series, with a maximum of 3,634 patients and of 3,340 controls. None of the three single nucleotide polymorphisms were significantly associated with the incidence of breast cancer.
authors: Cancer Research UK, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
authors: Bettina
authors: B
authors: Kuschel
authors: Georgia
authors: G
authors: Chenevix-Trench
authors: Amanda B
authors: AB
authors: Spurdle
authors: Xiaoqing
authors: X
authors: Chen
authors: John L
authors: JL
authors: Hopper
authors: Graham G
authors: GG
authors: Giles
authors: Margret
authors: M
authors: McCredie
authors: Jenny
authors: J
authors: Chang-Claude
authors: Catherine S
authors: CS
authors: Gregory
authors: Nick E
authors: NE
authors: Day
authors: Douglas F
authors: DF
authors: Easton
authors: Bruce A J
authors: BA
authors: Ponder
authors: Alison M
authors: AM
authors: Dunning
authors: Paul D P
authors: PD
authors: Pharoah
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011159:Population Surveillance / Q000379:methods*; D014157:Transcription Factors / Q000235:genetics*; D051759:Xeroderma Pigmentosum Group D Protein
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D004265:DNA Helicases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human