title: 135G>C and 172G>T polymorphism in the 5' untranslated region of RAD51 and sporadic endometrial cancer risk in Polish women.
abstract: BACKGROUND
  Despite advanced diagnostic and therapeutic procedures, endometrial cancer (EC) is still responsible for high morbidity and mortality of women. The genetic variability in RAD51 may contribute to the appearance and progression of various cancers including EC.
  
  
  OBJECTIVE
  We investigated the association of polymorphisms in the DNA repair genes RAD51 135G>C and 172G>T with endometrial cancer risk.
  
  
  METHODS
  The genotypes of RAD51 135G>C and 172G>T polymorphism were determined by PCR-RFLP methods in endometrial tissue of 240 cancer subjects and 240 healthy subjects who served as controls.
  
  
  RESULTS
  In the present work we demonstrated a significant positive association between the RAD51 C/C genotype and endometrial carcinoma, with an adjusted odds ratio (OR) of 13.0 (p < 0.0001). The distribution of genotypes for 135G>C SNP in endometrial cancer patients vs. controls was: 10% vs. 27% for GG, 13% vs. 58% for GC and 77% vs. 15% for CC genotype, respectively. Variant 135C allele of RAD51 increased the cancer risk (OR = 1.81; 95% CI 0.11-2.93, p = 0.022). The higher risk of EC occurrence was associated with the combined C135C-G172T genotype (OR = 7.69; 95% CI 3.45-17.12).
  
  
  CONCLUSIONS
  The results indicated that the polymorphism 135G>C of the RAD51 gene may be positively associated with endometrial carcinoma in the Polish population. Further studies, conducted on a larger group, are required to clarify this point.
authors.affiliation: Department of Pathology, Institute of Polish Mother's Memorial Hospital, Łódź, Poland. smolbea@wp.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Smolarz
authors.forename: Dariusz
authors.initials: D
authors.lastname: Samulak
authors.forename: Magdalena
authors.initials: M
authors.lastname: Michalska
authors.forename: Bożena
authors.initials: B
authors.lastname: Góralczyk
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szyłło
authors.forename: Jarosław
authors.initials: J
authors.lastname: Lewy
authors.forename: Stanisław
authors.initials: S
authors.lastname: Sporny
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kokołaszwili
authors.forename: Marek
authors.initials: M
authors.lastname: Burzyński
authors.forename: Hanna
authors.initials: H
authors.lastname: Romanowicz-Makowska
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000230:Adenocarcinoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004273:DNA, Neoplasm / Q000032:analysis; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause; D051135:Rad51 Recombinase / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors
chemical_list: D020121:5' Untranslated Regions; D004273:DNA, Neoplasm; C495153:RAD51 protein, human; D051135:Rad51 Recombinase