title: High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.
abstract: BACKGROUND
  We estimated the prevalence of BRCA1/2 germline mutations in consecutive ovarian cancers and correlated the mutation status with clinicopathological features.
  
  
  METHODS
  151 consecutive primary ovarian cancer patients were screened for BRCA1/2 germline mutations.
  
  
  RESULTS
  We identified BRCA1/2 germline mutations in 21 (13.9%) patients. Seventeen (81%) of carriers have BRCA1 and four (19%) have BRCA2 mutation. BRCA1/2 carriers have a distinctly longer overall survival than sporadic cases (log-rank, p=0.014).
  
  
  CONCLUSIONS
  The relatively high proportion of BRCA1/2 carriers among unselected ovarian cancer patients indicates the necessity of searching for recurrent BRCA mutations in each case of ovarian carcinoma. This routine screen should be widened to include denaturing high performance liquid chromatography (DHPLC) analysis of both exons 11 of BRCA1 and BRCA2 genes in women with positive family history.
authors.affiliation: Department of Biology and Genetics, Medical University of Gdansk, Poland.
authors.forename: Izabela
authors.initials: I
authors.lastname: Brozek
authors.forename: Karolina
authors.initials: K
authors.lastname: Ochman
authors.forename: Jarosław
authors.initials: J
authors.lastname: Debniak
authors.forename: Lucyna
authors.initials: L
authors.lastname: Morzuch
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ratajska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Stepnowska
authors.forename: Maciej
authors.initials: M
authors.lastname: Stukan
authors.forename: Janusz
authors.initials: J
authors.lastname: Emerich
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D011044:Poland