IMR Press / EJGO / Volume 22 / Issue 5 / pii/2001178

European Journal of Gynaecological Oncology (EJGO) is published by IMR Press from Volume 40 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Case Report

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

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1 Departments of Gynecologic Oncology, Yale School of Medicine, New Haven, CT, USA
2 Departments of Pathology, Yale School of Medicine, New Haven, CT, USA
3 Department of Oncology, University Hospital, Lund, Sweden
Eur. J. Gynaecol. Oncol. 2001, 22(5), 336–338;
Published: 10 October 2001

The purpose of the study was to examine BRCA1 germline mutation and its relationship to BRCA1expression 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 gerrnline 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 BRCAlpromoter hypermethylation may be responsible for reduced expression of BRCA1 in the absence of DNA mutations.

Uterine papillary serous carcinoma
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