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

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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
Volume22
Issue number5
StatePublished - 2001
Externally publishedYes

Fingerprint

Germ-Line Mutation
Papillary Carcinoma
Exons
BRCA2 Gene
BRCA1 Gene
Mutation
DNA
Nuclear Family
Epigenomics
Neoplasms
Immunohistochemistry
Mothers
Polymerase Chain Reaction
Population
Proteins

Keywords

  • BRCA1
  • BRCA2
  • Immunocytochemistry
  • Uterine papillary serous carcinoma

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Oncology

Cite this

No BRCA1 germline mutation in a family with uterine papillary serous carcinoma : A case report. / Pejovic, Tanja; Koul, A.; Olsen, D.; Chambers, J. T.

In: European Journal of Gynaecological Oncology, Vol. 22, No. 5, 2001, p. 336-338.

Research output: Contribution to journalArticle

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