title: Apparently "BRCA-related" breast and ovarian cancer patient with germline TP53 mutation.
abstract: Germline TP53 gene mutations are associated with complex cancer predisposition syndrome, the Li--Fraumeni syndrome, and are not as rare as were previously thought. Currently, the identification of Li--Fraumeni syndrome is mostly based on a conformance to descriptive criteria, which recently were amended to include wider spectrum of malignancies. The presence of very young age-onset breast cancers in TP53 mutations families is a feature that overlaps with hereditary breast/ovarian cancer families with BRCA1/2 genes mutations. Peri-diagnostic germline TP53 testing results in breast cancer patients can significantly affect surgical and adjuvant radiotherapy choices. The aim of this case report is to emphasize the importance of peri-diagnostic germline TP53 molecular testing in patients with early-onset breast cancer and its effect on the management and outcome of the disease. We present the apparent BRCA1-related, although mutation negative, breast and ovarian cancer patient who subsequently was confirmed to be TP53 c.817C>T (p.R273C) mutation carrier and discuss the importance of peri-diagnostic oncogenetic TP53 testing in early breast cancer cases. Histopathology and genetic modifiers (MDM2 SNP309G; TP53 R72P, PIN3) data are also addressed.
authors.affiliation: Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania. ramunas.janavicius@santa.lt
authors.forename: Ramūnas
authors.initials: R
authors.lastname: Janavičius
authors.forename: Kristina
authors.initials: K
authors.lastname: Andrėkutė
authors.forename: Ugnius
authors.initials: U
authors.lastname: Mickys
authors.forename: Vilius
authors.initials: V
authors.lastname: Rudaitis
authors.forename: Birutė
authors.initials: B
authors.lastname: Brasiūnienė
authors.forename: Laimonas
authors.initials: L
authors.lastname: Griškevičius
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D016158:Genes, p53; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*