title: Single nucleotide polymorphisms in breast cancer.
abstract: A limited number of genes have been identified that explain heritable risks of breast cancer (BC). We searched for low-penetrant genes in an association study using two populations: 223 Finnish unselected patients and 172 Polish familial cases, both with locally collected healthy controls. Candidate genes included DNA repair genes, methylenetetrahydrofolate reductase (MTHFR) and cyclin D1 genes. The frequencies for single nucleotide polymorphisms (SNPs) were measured in the following genes: NBS1, XPC, XPD, XRCC1, XRCC3, MTHFR, and cyclin D1. Odds ratios (ORs) were calculated to the wild-type genotype. The positive findings in the Finnish series were repeated in the Polish series. Significant findings among Finns were associations to XPC exon 15, XPD exon 10 and XRCC3 exon 7, the latter of borderline significance. None of these results could be repeated in the Polish series. The XPC result among Finns was probably an artifact of the control group deviating from the Hardy-Weinberg Equilibrium (HWE). The attempt to repeat the result for the XPD polymorphism among Poles was probably not valid because the control group deviated from the HWE. We conclude that within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany. a.foersti@dkfz.de
authors.forename: Asta
authors.initials: A
authors.lastname: Försti
authors.forename: Sabrina
authors.initials: S
authors.lastname: Angelini
authors.forename: Fabiola
authors.initials: F
authors.lastname: Festa
authors.forename: Somali
authors.initials: S
authors.lastname: Sanyal
authors.forename: Zhenzhong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Ewa
authors.initials: E
authors.lastname: Grzybowska
authors.forename: Jolanta
authors.initials: J
authors.lastname: Pamula
authors.forename: Wioletta
authors.initials: W
authors.lastname: Pekala
authors.forename: Helena
authors.initials: H
authors.lastname: Zientek
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kumar
mesh_terms: D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005387:Finland / Q000453:epidemiology; D005787:Gene Frequency; D006801:Humans; D011044:Poland / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers