Gala Lab

Massachusetts General Hospital

Boston · United States

NIH-funded
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NIH R01 · 2024

Pathogenic Germline Mutations in Barrett's Esophagus

PROJECT SUMMARY: Esophageal adenocarcinoma (EAC) remain among the most lethal cancers, with a 5- year survival rate of ~20%. Present in 1-6% of the general population, Barrett’s Esophagus (BE) has been identified as the definitive precursor lesion, but confers a risk of progression at an astoundingly low rate of 0.12% per year. Despite identification of multiple clinical risk factors for progression, such factors alone are not sufficient to explain why so few individuals subsequently develop high-grade dysplasia and adenocarcinoma. Extensive somatic genomic characterization of non-dysplastic Barrett’s Esophagus and EAC have demonstrated that early acquisition of TP53 mutations (prevalence…

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