title: BRCA1/2 germline mutations in Jewish patients with uterine serous carcinoma.
abstract: BACKGROUND
  Whether and to what extent germline mutations in the BRCA1 and BRCA2 genes increase the risk for developing uterine serous carcinoma (USC) remain controversial. We assessed the rate of the 3 predominant BRCA1/2 mutations in Jewish patients with USC and the relevance of carrier status to clinicopathological features and survival.
  
  
  METHODS
  Jewish patients with histologically confirmed USC diagnosed between April 1997 and December 2007 were genotyped for the 3 predominant BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations. Clinical characteristics were abstracted from the patients' medical records. The Kaplan-Meier method and log-rank tests were used for survival analyses.
  
  
  RESULTS
  Overall, 8 (25.8%) of 31 Jewish patients with USC who participated in the study were mutation carriers: 4 were BRCA2 (6174delT) carriers and 2 each carried the BRCA1 mutations (185delAG and 5382insC). The median ages of the carriers and the noncarriers were 66 and 74 years, respectively (P = 0.124). Four (50%) of the mutation carriers and 2 (8%) of the noncarriers had a family history of breast-ovarian cancer (P = 0.026). With a median follow-up of 76 months, the overall median survival time was 25 months. No significant differences in the median survival time, 2-year survival, or progression-free survival were noted between the mutation carriers and the noncarriers.
  
  
  CONCLUSIONS
  The high rate of the predominant BRCA1/2 mutations in unselected Jewish USC patients, if confirmed by future studies, suggests that USC could be considered an expression of the hereditary breast-ovarian cancer syndrome.
authors.affiliation: Gynecologic Oncology Unit, Department of Obstetrics and Gynecology, Meir Medical Center, Kfar Saba, Israel. ilan.bruchim@clalit.org.il
authors.forename: Ilan
authors.initials: I
authors.lastname: Bruchim
authors.forename: Keren
authors.initials: K
authors.lastname: Amichay
authors.forename: Dvora
authors.initials: D
authors.lastname: Kidron
authors.forename: Zohar
authors.initials: Z
authors.lastname: Attias
authors.forename: Tal
authors.initials: T
authors.lastname: Biron-Shental
authors.forename: Liat
authors.initials: L
authors.lastname: Drucker
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
authors.forename: Haim
authors.initials: H
authors.lastname: Werner
authors.forename: Ami
authors.initials: A
authors.lastname: Fishman
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000970:Antineoplastic Agents / Q000627:therapeutic use; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D017024:Chemotherapy, Adjuvant; D018284:Cystadenocarcinoma, Serous / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000235:genetics; D011379:Prognosis; D012189:Retrospective Studies; D015996:Survival Rate; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human