title: BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
abstract: BACKGROUND
  Epithelial ovarian cancer (EOC) patients with BRCA mutations have better prognosis than nonhereditary cases matched for histology and stage and age at diagnosis, especially Ashkenazi Jews (AJ).
  
  
  METHODS
  We retrospectively reviewed data on 700 highly ethnically heterogeneous patients diagnosed with stage Ic-IV EOC and evaluated for BRCA status between 1995 and 2009 in American, Israeli, and Italian medical centers.
  
  
  RESULTS
  The ethnicities of the 190 patients (median age 55.5 years, range 31-83 years) were AJ, Jewish non-Ashkenazi, Caucasian, African-American, Hispanic, or unknown. Ninety were BRCA1/2 carriers (71 BRCA1 and 19BRCA2). The most common mutations in AJ and non-AJ origins were 185delAG and 6174delT. Non-Jewish Caucasians exhibited the widest variation (>20 mutation subtypes). BRCA carriers had significantly prolonged median overall survival (93.6 months) compared with noncarriers (66.6 months; 95% confidence interval 44.5-91.7, P = 0.0081). There was no difference in progression-free survival.
  
  
  CONCLUSIONS
  Our data demonstrate a wide variety of BRCA mutations in a highly ethnically diverse EOC population, and confirm that EOC BRCA mutation carriers have better prognosis with longer median survival than patients with nonhereditary disease. The contribution of unclassified BRCA variants to cancer etiology remains undetermined.
authors.affiliation: New York University Cancer Institute, New York, NY, USA.
authors.forename: T
authors.initials: T
authors.lastname: Safra
authors.forename: W C
authors.initials: WC
authors.lastname: Lai
authors.forename: L
authors.initials: L
authors.lastname: Borgato
authors.forename: M O
authors.initials: MO
authors.lastname: Nicoletto
authors.forename: T
authors.initials: T
authors.lastname: Berman
authors.forename: E
authors.initials: E
authors.lastname: Reich
authors.forename: M
authors.initials: M
authors.lastname: Alvear
authors.forename: I
authors.initials: I
authors.lastname: Haviv
authors.forename: F M
authors.initials: FM
authors.lastname: Muggia
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D000077216:Carcinoma, Ovarian Epithelial; D018572:Disease-Free Survival; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D007585:Jews / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics / Q000473:pathology* / Q000628:therapy*; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology* / Q000628:therapy*; D011379:Prognosis; D016896:Treatment Outcome; D044465:White People / Q000235:genetics
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA; ethnic variation; ovarian cancer; prognosis; unclassified mutations