Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
Open Access
- 1 December 2002
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 39 (12) , 941-944
- https://doi.org/10.1136/jmg.39.12.941
Abstract
Over the last 20 years our group has ascertained families with a history of early onset tumours in addition to sarcoma.4– 6, 17 In the last 10 years we have also received samples from families ascertained at other genetics and oncology centres in the UK. We have retrospectively analysed the outcome of TP53 germline mutation testing in families with a single proven sarcoma where that person or a first degree relative developed early onset (17 The families in this study fulfilling LFL criteria were compared with the 18 LFL families not including a single sarcoma or breast cancer occurrence.Keywords
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