Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk.
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.
Kuschel
Bettina
B
Cancer Research UK, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom.
Chenevix-Trench
Georgia
G
Spurdle
Amanda B
AB
Chen
Xiaoqing
X
Hopper
John L
JL
Giles
Graham G
GG
McCredie
Margret
M
Chang-Claude
Jenny
J
Gregory
Catherine S
CS
Day
Nick E
NE
Easton
Douglas F
DF
Ponder
Bruce A J
BA
Dunning
Alison M
AM
Pharoah
Paul D P
PD
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
D004268:DNA-Binding Proteins; D014157:Transcription Factors; D004265:DNA Helicases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human