Apparently 'BRCA-Related' Breast and Ovarian Cancer Patient With Germline TP53 Mutation
| Autor: | Vilius Rudaitis, Kristina Andrėkutė, Laimonas Griskevicius, Ramūnas Janavičius, Ugnius Mickys, Birutė Brasiūnienė |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Oncology
medicine.medical_specialty Mutation endocrine system diseases business.industry Cancer Disease Gene mutation medicine.disease medicine.disease_cause Germline Breast cancer Mutation Carrier Internal medicine Internal Medicine medicine Surgery skin and connective tissue diseases Ovarian cancer business neoplasms |
| Zdroj: | The Breast Journal. 17:409-415 |
| ISSN: | 1075-122X |
| DOI: | 10.1111/j.1524-4741.2011.01088.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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