Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Clinical gastroenterology and hepatology, 2024-03, Vol.22 (3), p.662-665.e1

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 ∼2.8% of diagnoses. Stomach and esophageal cancers constitute another 1.3% (TP53 Database; R20, July 2019: https://tp53.isb-cgc.org).2