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

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Autores de FISABIO

Autores ajenos a FISABIO

  • Ramon Y Cajal T
  • Pineda M
  • Aguirre E
  • Graña B
  • Chirivella I
  • Balmaña J
  • Brunet J
  • SEOM Hereditary Cancer Working Group and AEGH Hereditary Cancer Committee

Grupos de Investigación

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.

Datos de la publicación

ISSN/ISSNe:
1699-048X, 1699-3055

CLINICAL & TRANSLATIONAL ONCOLOGY  SPRINGER-VERLAG ITALIA SRL

Tipo:
Article
Páginas:
2627-2633
PubMed:
37133731

Citas Recibidas en Web of Science: 6

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Keywords

  • Li-Fraumeni syndrome; TP53; Cancer; Pathogenic variants

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