title: BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.
abstract: BACKGROUND
  Although in recent years deleterious BRCA1 mutations have been extensively studied as a prostate cancer risk factor, results are inconclusive. To assess the contribution of the BRCA1 Galician founder mutation c.211A>G in prostate cancer morbidity we conducted a case-control study. Moreover, to better elucidate whether deleterious BRCA1 mutations are involved in the development of prostate cancer, we performed a systematic review and a meta-analysis of BRCA1 studies on prostate cancer.
  
  
  METHODS
  A total of 905 unselected men diagnosed with adenocarcinoma of the prostate and a control group of 936 unrelated men without history of prostate cancer were evaluated for c.211A>G. Adjusted by age Odds ratios (OR) and 95% confidence intervals (CIs) were estimated using logistic regression. To construct the meta-analysis, genotype-based epidemiological studies reporting BRCA1 founder mutations on prostate cancer were identified by comprehensive and systematic bibliographic search. After extraction of relevant data, main and subgroup analysis by mutation were performed to assess the effect of BRCA1 on prostate cancer risk.
  
  
  RESULTS
  Four c.211A>G heterozygous individuals, one patient and three controls, were detected (OR = 0.27; 95% CI: 0.01-2.36; P = 0.28). Meta-analysis results from the integration of our data and other seven studies with BRCA1 genotyping data (5,705 prostate cancer cases and 13,218 controls) did not detect an association with prostate cancer risk (OR = 1.36; 95% CI: 0.87-2.14; P = 0.18).
  
  
  CONCLUSIONS
  Our conclusive trial demonstrates the lack of association between Galician splicing mutation c.211A>G in the BRCA1 gene and prostate cancer risk. Moreover, the result of the meta-analysis also discards the involvement of BRCA1 mutations in the development of prostate cancer.
authors.affiliation: Fundación Pública Galega de Medicina Xenómica-SERGAS. Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Fachal
authors.forename: Antonio
authors.initials: A
authors.lastname: Gómez-Caamaño
authors.forename: Catuxa
authors.initials: C
authors.lastname: Celeiro-Muñoz
authors.forename: Paula
authors.initials: P
authors.lastname: Peleteiro
authors.forename: Ana
authors.initials: A
authors.lastname: Blanco
authors.forename: Ana
authors.initials: A
authors.lastname: Carballo
authors.forename: Jerónimo
authors.initials: J
authors.lastname: Forteza
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Ana
authors.initials: A
authors.lastname: Vega
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology* / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D011471:Prostatic Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human