title: BRCA1 germline mutations in women with uterine serous papillary carcinoma.
abstract: OBJECTIVE
  To determine the possible effects and incidence of BRCA1 and BRCA2 germline mutations in uterine serous papillary carcinoma.
  
  
  METHODS
  We screened DNA from 12 women with uterine serous papillary carcinoma for BRCA1 and BRCA2 germline mutations common in the Jewish population (BRCA1-185delAG and 5382insC, BRCA2-6174delT). In women with germline mutations, tumor DNA was screened for loss of heterozygosity at the appropriate loci.
  
  
  RESULTS
  Nine women were of Jewish Ashkenazi origin and three were non-Ashkenazi. Two of nine Ashkenazi women were carriers of germline mutations: one 185delAG mutation and one 5382insC mutation. Five women had histories of breast carcinoma before diagnosis of uterine serous papillary carcinoma. Family histories of seven women had at least one first-degree relative with malignant disease. Of those, four had at least one first-degree relative with breast, ovarian, or colon carcinoma. Both carriers had strong family histories of breast-ovarian carcinoma. Loss of heterozygosity analysis found loss of the wild-type BRCA1 allele in the primary uterine tumors.
  
  
  CONCLUSIONS
  BRCA1 germline mutations were observed in two of nine of the women in this series. The loss of heterozygosity in the tumor tissue of the carriers, coupled with the high frequency of family and patient histories of breast or ovarian malignancies, suggest that uterine serous papillary carcinoma might be a manifestation of familial breast-ovarian cancer.
authors.affiliation: Division of Gynecologic Surgery and Oncology, Shaare Zedek Medical Center, Jerusalem, Israel. olavie@internet-zahav.net
authors.forename: O
authors.initials: O
authors.lastname: Lavie
authors.forename: G
authors.initials: G
authors.lastname: Hornreich
authors.forename: A
authors.initials: A
authors.lastname: Ben Arie
authors.forename: P
authors.initials: P
authors.lastname: Renbaum
authors.forename: E
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: U
authors.initials: U
authors.lastname: Beller
mesh_terms: D000368:Aged; D018283:Cystadenocarcinoma, Papillary / Q000150:complications*; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged; D014594:Uterine Neoplasms / Q000150:complications*