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SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
Sánchez-Heras, Ana Beatriz; Ramon y Cajal, Teresa; Pineda, Marta; Brunet, Joan; Aguirre, Elena; Begoña, Graña; Chirivella, Isabel; Balmaña, Judit.
Affiliation
  • Sánchez-Heras, Ana Beatriz; Hospital General Universitario de Elche. Medical Oncology Department. Alicante. Spain
  • Ramon y Cajal, Teresa; Hospital Sant Pau. Medical Oncology Service. Barcelona. Spain
  • Pineda, Marta; ONCOBELL Program. Institut d’Investigació Biomèdica de Bellvitge (IDIBELL). L’Hospitalet de Llobregat. Spain
  • Brunet, Joan; ONCOBELL Program. Institut d’Investigació Biomèdica de Bellvitge (IDIBELL). L’Hospitalet de Llobregat. Spain
  • Aguirre, Elena; Hospital Quironsalud. Medical Oncology Department. Zaragoza. Spain
  • Begoña, Graña; University Hospital A Coruña. Medical Oncology Department. A Coruña. Spain
  • Chirivella, Isabel; University of Valencia. Medical Oncology Department, INCLIVA Biomedical Research Institute. Valencia. Spain
  • Balmaña, Judit; Vall d’Hebron Institute of Oncology. Hospital Vall d’Hebron, and Hereditary Cancer Genetics Group. Medical Oncology Department. Barcelona. Spain
Clin. transl. oncol. (Print) ; 25(9): 2627-2633, sept. 2023.
Article in English | IBECS | ID: ibc-224129
Responsible library: ES1.1
Localization: ES15.1 - BNCS
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 (AU)
Subject(s)


Full text: Available Collection: National databases / Spain Database: IBECS Main subject: Tumor Suppressor Protein p53 / Li-Fraumeni Syndrome / Genetic Predisposition to Disease Limits: Humans Country/Region as subject: Europa Language: English Journal: Clin. transl. oncol. (Print) Year: 2023 Document type: Article Institution/Affiliation country: Hospital General Universitario de Elche/Spain / Hospital Quironsalud/Spain / Hospital Sant Pau/Spain / ONCOBELL Program/Spain / University Hospital A Coruña/Spain / University of Valencia/Spain / Vall d’Hebron Institute of Oncology/Spain

Full text: Available Collection: National databases / Spain Database: IBECS Main subject: Tumor Suppressor Protein p53 / Li-Fraumeni Syndrome / Genetic Predisposition to Disease Limits: Humans Country/Region as subject: Europa Language: English Journal: Clin. transl. oncol. (Print) Year: 2023 Document type: Article Institution/Affiliation country: Hospital General Universitario de Elche/Spain / Hospital Quironsalud/Spain / Hospital Sant Pau/Spain / ONCOBELL Program/Spain / University Hospital A Coruña/Spain / University of Valencia/Spain / Vall d’Hebron Institute of Oncology/Spain
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