Objective: To determine the possible effects and incidence of BRCA1 and BRC
A2 germline mutations in uterine serous papillary carcinoma.
Methods: We screened DNA from 12 women with uterine serous papillary carcin
oma for BRCA1 and BRCA2 germline mutations common in the Jewish population
(BRCA1-185delAG and 5382insC, BRCA2-6174delT). In women with germline mutat
ions, tumor DNA was screened for loss of heterozygosity at the appropriate
loci.
Results: Nine women were of Jewish Ashkenazi origin and three were non-Ashk
enazi. Two of nine Ashkenazi women were carriers of germline mutations: one
185delAG mutation and one 5382insC mutation. Five women had histories of b
reast carcinoma before diagnosis of uterine serous papillary carcinoma. Fam
ily histories of seven women had at least one first-degree relative with ma
lignant disease. Of those, four had at least one first-degree relative with
breast, ovarian, or colon carcinoma. Both carriers had strong family histo
ries of breast-ovarian carcinoma. Loss of heterozygosity analysis found los
s of the wild-type BRCA1 allele in the primary uterine tumors.
Conclusion: BRCA1 germline mutations were observed in two of nine of the wo
men in this series. The loss of heterozygosity in the tumor tissue of the c
arriers, coupled with the high frequency of family and patient histories of
breast or ovarian malignancies, suggest that uterine serous papillary carc
inoma might be a manifestation of familial breast-ovarian cancer. (Obstet G
ynecol 2000;96:28-32. (C) 2000 by The American College of Obstetricians and
Gynecologists.).