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. 2023 Sep;25(9):2627-2633.
doi: 10.1007/s12094-023-03202-9. Epub 2023 May 3.

SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)

Ana Beatriz Sánchez-Heras  1 , Teresa Ramon Y Cajal  2 , Marta Pineda  3   4 , Elena Aguirre  5 , Begoña Graña  6 , Isabel Chirivella  7 , Judit Balmaña  8 , Joan Brunet  9   10   11   12 ; SEOM Hereditary Cancer Working Group and AEGH Hereditary Cancer Committee
Affiliations

SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)

Ana Beatriz Sánchez-Heras et al. Clin Transl Oncol. 2023 Sep.

Abstract

Li-Fraumeni syndrome is caused by heterozygous germline pathogenic variants in the TP53 gene. It involves a high risk of a variety of malignant tumors in childhood and adulthood, the main ones being premenopausal breast cancer, soft tissue sarcomas and osteosarcomas, central nervous system tumors, and adrenocortical carcinomas. The variability of the associated clinical manifestations, which do not always fit the classic criteria of Li-Fraumeni syndrome, has led the concept of SLF to extend to a more overarching cancer predisposition syndrome, termed hereditable TP53-related cancer syndrome (hTP53rc). However, prospective studies are needed to assess genotype-phenotype characteristics, as well as to evaluate and validate risk-adjusted recommendations. This guideline aims to establish the basis for interpreting pathogenic variants in the TP53 gene and provide recommendations for effective screening and prevention of associated cancers in carrier individuals.

Keywords: Cancer; Li-Fraumeni syndrome; Pathogenic variants; TP53.

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Conflict of interest statement

The authors declared no conflicts of interest with respect to the authorship, and/or publication of this article.

Figures

Fig. 1
Fig. 1
Algorithm proposal for the interpretation of TP53 pathogenic variants
See this image and copyright information in PMC

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