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Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53

Ferrarini, Alessandra and Auteri-Kaczmarek, Agnes and Pica, Alessia and Boesch, Nemya and Heinimann, Karl and Schäfer, Stephan C. and Vesnaver-Megalo, Sara and Cina, Viviane and Beckmann, Jacques S. and Monnerat, Christian. (2011) Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. Familial cancer, Vol. 10, H. 2. S. 187-192.

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Official URL: http://edoc.unibas.ch/dok/A6007701

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Abstract

We report a 26-year-old female patient who was diagnosed within 4 years with chest sarcoma, lung adenocarcinoma, and breast cancer. While her family history was unremarkable, DNA sequencing of TP53 revealed a germline de novo non-sense mutation in exon 6 p.Arg213X. One year later, she further developed a contralateral ductal carcinoma in situ, and 18 months later a jaw osteosarcoma. This case illustrates the therapeutic pitfalls in the care of a young cancer patient with TP53 de novo germline mutations and the complications related to her first-line therapy. Suggestion is made to use the less stringent Chompret criteria for germline TP53 mutation screening. Our observation underlines the possibly negative effect of radiotherapy in generating second tumors in patients with a TP53 mutation. We also present a review of six previously reported cases, comparing their cancer phenotypes with those generally produced by TP53 mutations.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
UniBasel Contributors:Heinimann, Karl
Item Type:Article, refereed
Bibsysno:Link to catalogue
Publisher:Springer
ISSN:1389-9600
Note:Publication type according to Uni Basel Research Database: Journal item
Last Modified:24 May 2013 09:15
Deposited On:26 Apr 2013 06:57

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