title: DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk.
abstract: Breast and ovarian cancers increased in the last decades. Except rare cases with a genetic predisposition and high penetrance, these pathologies are viewed as a polygenic disease. In this concept, association studies look for genetic variations such as polymorphisms in low penetrance genes, i.e. genes in interaction with environmental factors. DNA repair systems that protect the genome from deleterious endogenous and exogenous damages have been shown to have significantly reduced. In particular, enzymes of the nucleotide excision repair pathway are suspected to be implicated in cancer. In this study, 2 functional polymorphisms in a DNA repair gene ERCC2 were analyzed. The population included 911 breast cancer cases, 51 ovarian cancer cases and 1000 controls. The genotyping of 2 SNP (Single Nucleotide Polymorphism) was carried out on the population with the MGB (Minor Groove Binder) probe technique which consists of the use of the allelic discrimination with the Taqman method. This study enabled us to show an increase in risk of breast cancer with no oral contraceptive users and with women exhibiting a waist-to-hip ratio (WHR) > 0.85 for Asn homozygous for ERCC2 312.
authors.affiliation: Département d'Oncogénétique du Centre Jean Perrin, EA 2416 CBRV, 28 Place Henri Dunant, B,P, 38, 63001 Clermont-Ferrand Cedex 01, France. Dominique.Bernard-Gallon@cjp.fr
authors.forename: Dominique
authors.initials: D
authors.lastname: Bernard-Gallon
authors.forename: Rémy
authors.initials: R
authors.lastname: Bosviel
authors.forename: Laetitia
authors.initials: L
authors.lastname: Delort
authors.forename: Luc
authors.initials: L
authors.lastname: Fontana
authors.forename: Alain
authors.initials: A
authors.lastname: Chamoux
authors.forename: Nadège
authors.initials: N
authors.lastname: Rabiau
authors.forename: Fabrice
authors.initials: F
authors.lastname: Kwiatkowski
authors.forename: Nasséra
authors.initials: N
authors.lastname: Chalabi
authors.forename: Samir
authors.initials: S
authors.lastname: Satih
authors.forename: Yves-Jean
authors.initials: YJ
authors.lastname: Bignon
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016017:Odds Ratio; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D051759:Xeroderma Pigmentosum Group D Protein