SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
Por:
Sanchez-Heras A, Cajal T, Pineda M, Aguirre E, Grana B, Chirivella I, Balmana J, Brunet J
Publicada:
1 sep 2023
Ahead of Print:
1 may 2023
Resumen:
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.
Filiaciones:
Sanchez-Heras A:
Hosp Gen Univ Elche, Med Oncol Dept, Elche, Alicante, Spain
Cajal T:
Hosp Santa Creu & Sant Pau, Med Oncol Serv, Barcelona, Spain
Pineda M:
Inst Invest Biomed Bellvitge IDIBELL, Catalan Inst Oncol, ONCOBELL Program, Hereditary Canc Program, Barcelona, Spain
Carlos III Inst Hlth, CIBERONC, Consortium Biomed Res Canc, Madrid, Spain
Aguirre E:
Hosp Quironsalud, Med Oncol Dept, Zaragoza, Spain
Grana B:
Univ Hosp A Coruna, Med Oncol Dept, La Coruna 15006, Spain
Chirivella I:
Univ Valencia, INCLIVA Biomed Res Inst, Med Oncol Dept, Valencia, Spain
Balmana J:
Hosp Valle De Hebron, Med Oncol Dept, Barcelona, Spain
Vall dHebron Inst Oncol, Hereditary Canc Genet Grp, Barcelona, Spain
Brunet J:
Inst Invest Biomed Bellvitge IDIBELL, Catalan Inst Oncol, ONCOBELL Program, Hereditary Canc Program, Barcelona, Spain
Carlos III Inst Hlth, CIBERONC, Consortium Biomed Res Canc, Madrid, Spain
Univ Girona, Univ Hosp Josep Trueta, Catalan Inst Oncol, Med Oncol Dept, Girona, Spain
Girona Biomed Res Inst IDIBGI, Catalan Inst Oncol, Hereditary Canc Program, Girona, Spain
Green Published, hybrid
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