title: No BRCA1 germline mutation in a family with uterine papillary serous carcinoma: a case report.
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 BRCAI or BRCA2 gene was found in the two patients. Both samples showed reduced levels of BRCAI 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.
authors.affiliation: Department of Gynecologic Oncology, Yale School of Medicine, New Haven, CT 06520, USA.
authors.forename: T
authors.initials: T
authors.lastname: Pejovic
authors.forename: A
authors.initials: A
authors.lastname: Koul
authors.forename: D
authors.initials: D
authors.lastname: Olsen
authors.forename: J T
authors.initials: JT
authors.lastname: Chambers
mesh_terms: D000368:Aged; D018283:Cystadenocarcinoma, Papillary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*