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

李-弗劳梅尼综合征患者胃肠道肿瘤的谱系及额外风险

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

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