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

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...
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Autor*in:	Sánchez-Heras, Ana Beatriz [verfasserIn] Ramon y Cajal, Teresa Pineda, Marta Aguirre, Elena Graña, Begoña Chirivella, Isabel Balmaña, Judit Brunet, Joan

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	Li-Fraumeni syndrome Cancer Pathogenic variants

Anmerkung:	© The Author(s) 2023

Übergeordnetes Werk:	Enthalten in: Revista de oncología - Barcelona : Doyma, 2000, 25(2023), 9 vom: 03. Mai, Seite 2627-2633
Übergeordnetes Werk:	volume:25 ; year:2023 ; number:9 ; day:03 ; month:05 ; pages:2627-2633

Links:	Volltext

DOI / URN:	10.1007/s12094-023-03202-9

Katalog-ID:	SPR052742571

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allfields	10.1007/s12094-023-03202-9 doi (DE-627)SPR052742571 (SPR)s12094-023-03202-9-e DE-627 ger DE-627 rakwb eng Sánchez-Heras, Ana Beatriz verfasserin (orcid)0000-0003-1742-5374 aut SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Li-Fraumeni syndrome (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Ramon y Cajal, Teresa (orcid)0000-0003-3490-3585 aut Pineda, Marta (orcid)0000-0002-5403-5845 aut Aguirre, Elena (orcid)0000-0002-2999-5959 aut Graña, Begoña (orcid)0000-0003-2008-8188 aut Chirivella, Isabel (orcid)0000-0002-0733-3276 aut Balmaña, Judit (orcid)0000-0002-0762-6415 aut Brunet, Joan (orcid)0000-0003-1945-3512 aut Enthalten in Revista de oncología Barcelona : Doyma, 2000 25(2023), 9 vom: 03. Mai, Seite 2627-2633 (DE-627)385985452 (DE-600)2143451-7 1578-195X nnns volume:25 year:2023 number:9 day:03 month:05 pages:2627-2633 https://dx.doi.org/10.1007/s12094-023-03202-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 AR 25 2023 9 03 05 2627-2633
spelling	10.1007/s12094-023-03202-9 doi (DE-627)SPR052742571 (SPR)s12094-023-03202-9-e DE-627 ger DE-627 rakwb eng Sánchez-Heras, Ana Beatriz verfasserin (orcid)0000-0003-1742-5374 aut SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Li-Fraumeni syndrome (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Ramon y Cajal, Teresa (orcid)0000-0003-3490-3585 aut Pineda, Marta (orcid)0000-0002-5403-5845 aut Aguirre, Elena (orcid)0000-0002-2999-5959 aut Graña, Begoña (orcid)0000-0003-2008-8188 aut Chirivella, Isabel (orcid)0000-0002-0733-3276 aut Balmaña, Judit (orcid)0000-0002-0762-6415 aut Brunet, Joan (orcid)0000-0003-1945-3512 aut Enthalten in Revista de oncología Barcelona : Doyma, 2000 25(2023), 9 vom: 03. Mai, Seite 2627-2633 (DE-627)385985452 (DE-600)2143451-7 1578-195X nnns volume:25 year:2023 number:9 day:03 month:05 pages:2627-2633 https://dx.doi.org/10.1007/s12094-023-03202-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 AR 25 2023 9 03 05 2627-2633
allfields_unstemmed	10.1007/s12094-023-03202-9 doi (DE-627)SPR052742571 (SPR)s12094-023-03202-9-e DE-627 ger DE-627 rakwb eng Sánchez-Heras, Ana Beatriz verfasserin (orcid)0000-0003-1742-5374 aut SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Li-Fraumeni syndrome (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Ramon y Cajal, Teresa (orcid)0000-0003-3490-3585 aut Pineda, Marta (orcid)0000-0002-5403-5845 aut Aguirre, Elena (orcid)0000-0002-2999-5959 aut Graña, Begoña (orcid)0000-0003-2008-8188 aut Chirivella, Isabel (orcid)0000-0002-0733-3276 aut Balmaña, Judit (orcid)0000-0002-0762-6415 aut Brunet, Joan (orcid)0000-0003-1945-3512 aut Enthalten in Revista de oncología Barcelona : Doyma, 2000 25(2023), 9 vom: 03. Mai, Seite 2627-2633 (DE-627)385985452 (DE-600)2143451-7 1578-195X nnns volume:25 year:2023 number:9 day:03 month:05 pages:2627-2633 https://dx.doi.org/10.1007/s12094-023-03202-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 AR 25 2023 9 03 05 2627-2633
allfieldsGer	10.1007/s12094-023-03202-9 doi (DE-627)SPR052742571 (SPR)s12094-023-03202-9-e DE-627 ger DE-627 rakwb eng Sánchez-Heras, Ana Beatriz verfasserin (orcid)0000-0003-1742-5374 aut SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Li-Fraumeni syndrome (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Ramon y Cajal, Teresa (orcid)0000-0003-3490-3585 aut Pineda, Marta (orcid)0000-0002-5403-5845 aut Aguirre, Elena (orcid)0000-0002-2999-5959 aut Graña, Begoña (orcid)0000-0003-2008-8188 aut Chirivella, Isabel (orcid)0000-0002-0733-3276 aut Balmaña, Judit (orcid)0000-0002-0762-6415 aut Brunet, Joan (orcid)0000-0003-1945-3512 aut Enthalten in Revista de oncología Barcelona : Doyma, 2000 25(2023), 9 vom: 03. Mai, Seite 2627-2633 (DE-627)385985452 (DE-600)2143451-7 1578-195X nnns volume:25 year:2023 number:9 day:03 month:05 pages:2627-2633 https://dx.doi.org/10.1007/s12094-023-03202-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 AR 25 2023 9 03 05 2627-2633
allfieldsSound	10.1007/s12094-023-03202-9 doi (DE-627)SPR052742571 (SPR)s12094-023-03202-9-e DE-627 ger DE-627 rakwb eng Sánchez-Heras, Ana Beatriz verfasserin (orcid)0000-0003-1742-5374 aut SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Li-Fraumeni syndrome (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213 Ramon y Cajal, Teresa (orcid)0000-0003-3490-3585 aut Pineda, Marta (orcid)0000-0002-5403-5845 aut Aguirre, Elena (orcid)0000-0002-2999-5959 aut Graña, Begoña (orcid)0000-0003-2008-8188 aut Chirivella, Isabel (orcid)0000-0002-0733-3276 aut Balmaña, Judit (orcid)0000-0002-0762-6415 aut Brunet, Joan (orcid)0000-0003-1945-3512 aut Enthalten in Revista de oncología Barcelona : Doyma, 2000 25(2023), 9 vom: 03. Mai, Seite 2627-2633 (DE-627)385985452 (DE-600)2143451-7 1578-195X nnns volume:25 year:2023 number:9 day:03 month:05 pages:2627-2633 https://dx.doi.org/10.1007/s12094-023-03202-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 AR 25 2023 9 03 05 2627-2633
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source	Enthalten in Revista de oncología 25(2023), 9 vom: 03. Mai, Seite 2627-2633 volume:25 year:2023 number:9 day:03 month:05 pages:2627-2633
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topic_title	SEOM clinical guideline on heritable TP53-related cancer syndrome (2022) Li-Fraumeni syndrome (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Pathogenic variants (dpeaa)DE-He213
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title_sort	seom clinical guideline on heritable tp53-related cancer syndrome (2022)
title_auth	SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
abstract	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. © The Author(s) 2023
abstractGer	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. © The Author(s) 2023
abstract_unstemmed	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. © The Author(s) 2023
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title_short	SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
url	https://dx.doi.org/10.1007/s12094-023-03202-9
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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. 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