Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome.

Hatton, Jessica N; de Andrade, Kelvin C; Frone, Megan N; Savage, Sharon A; Khincha, Payal P

Hatton, Jessica N; de Andrade, Kelvin C; Frone, Megan N; Savage, Sharon A; Khincha, Payal P.

Afiliação

Hatton JN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland. Electronic address: Jessica.hatton@nih.gov.
de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Khincha PP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

Clin Gastroenterol Hepatol ; 22(3): 662-665.e1, 2024 Mar.

Article em En | MEDLINE | ID: mdl-37714395

ABSTRACT

ABSTRACT

Li-Fraumeni syndrome (LFS), linked to heterozygous germline pathogenic/likely pathogenic variants in TP53, confers exceptionally high cancer risk, including core cancers (sarcoma, breast, adrenocortical, and brain cancer) among many other cancer types.1 Colorectal cancer (CRC) is most common after the core and hematologic cancers, accounting for â¼2.8% of diagnoses. Stomach and esophageal cancers constitute another 1.3% (TP53 Database; R20, July 2019 https//tp53.isb-cgc.org).2.

Assuntos

Neoplasias Gastrointestinais; Síndrome de Li-Fraumeni; Humanos; Síndrome de Li-Fraumeni/complicações; Síndrome de Li-Fraumeni/genética; Proteína Supressora de Tumor p53/genética; Predisposição Genética para Doença; Mutação em Linhagem Germinativa; Neoplasias Gastrointestinais/epidemiologia; Neoplasias Gastrointestinais/etiologia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Li-Fraumeni / Neoplasias Gastrointestinais Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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