No BRCA1 germline mutation in a family with uterine papillary serous carcinoma: A case report

T. Pejovic, A. Koul, D. Olsen, J. T. Chambers

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


The purpose of the study was to examine BRCA1 germline mutation and its relationship to BRCA1 expression in two patients, a mother and a daughter, both diagnosed with uterine papillary serous carcinoma (UPSC). DNA was screened for BRCA1 and BRCA2 germline mutations common in the Jewish population (185delAG, 5382insC, and 6174delT) by PCR-based assay and with a protein truncation test (PTT) to detect mutation in exon 11 of BRCA1 and exons 10 and 11 of BRCA2. BRCA1 expression in fixed tumor tissues was assessed by immunocytochemistry (IHC). No germline mutation in either BRCA1 or BRCA2 gene was found in the two patients. Both samples showed reduced levels of BRCA1 expression. Taken together, these results suggest that undetected or unscreened for germline mutation may be associated with occurrence of this rare tumor type in two members of the same family. Alternatively, an epigenetic mechanism such as BRCA1 promoter hypermethylation may be responsible for reduced expression of BRCA1 in the absence of DNA mutations.

Original languageEnglish (US)
Pages (from-to)336-338
Number of pages3
JournalEuropean Journal of Gynaecological Oncology
Issue number5
StatePublished - Dec 29 2001
Externally publishedYes


  • BRCA1
  • BRCA2
  • Immunocytochemistry
  • Uterine papillary serous carcinoma

ASJC Scopus subject areas

  • Oncology
  • Obstetrics and Gynecology


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