BRCA germline mutations in Jewish women with uterine serous papillary carcinoma

Gynecol Oncol. 2004 Feb;92(2):521-4. doi: 10.1016/j.ygyno.2003.11.009.


Objective: Our recent study determined the possible effects and incidence of BRCA1 and BRCA2 germline mutations in uterine serous papillary carcinoma (USPC). The purpose of this study was to determine the incidence of these mutations in an enlarged series of USPC.

Methods: We screened DNA from 27 women with USPC for BRCA1 and BRCA2 germline mutations common in the Jewish population (BRCA1-185delAG and 5382 insC,BRCA2-6174delT). In women with germline mutations, tumor DNA was screened for loss of heterozygosity (LOH) at the appropriate loci.

Results: Women (20) were of Jewish Ashkenazi origin and seven were non-Ashkenazi. Four of 20 (20%) Ashkenazi women were carriers of germline mutations: three 185delAG mutation and one 5382insC mutation. All carriers had strong family histories of breast-ovarian carcinoma. Seven out of 20 (35%) women had been diagnosed for breast carcinoma before diagnosis of USPC. Family histories of 12 women (60%) showed at least one first-degree relative with breast, ovarian, or colon carcinoma. Loss of heterozygosity analysis found a loss of the wild-type BRCA1 allele in three of the four primary uterine tumors that were examined.

Conclusions: Our findings further support our previous published data suggesting a high incidence of BRCA carriers among USPC Ashkenazi Jewish patients. The loss of heterozygosity in the tumor tissue of carriers coupled with the high frequency of patient and family history of breast and ovarian malignancies suggest that USPC might be part of the manifestation of familial breast-ovarian cancer in Ashkenazi Jewish patients.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Carcinoma, Papillary / genetics*
  • Carcinoma, Papillary / pathology
  • DNA, Neoplasm / genetics
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Jews
  • Loss of Heterozygosity
  • Middle Aged
  • Neoplasm Staging
  • Uterine Neoplasms / genetics*
  • Uterine Neoplasms / pathology


  • DNA, Neoplasm