Identification of genetic drivers for esophageal cancer creates new opportunity for screening, treatment
Esophageal adenocarcinoma (EAC) is a highly lethal cancer, with a five-year survival rate of less than 20 percent. Although a precursor lesion to EAC, called Barrett's esophagus (BE), is present in roughly seven percent of middle-aged adults, less than one percent of BE patients will progress to EAC, making it difficult to determine which individuals are at risk of developing this deadly cancer.
Their results, published in Gastroenterology, highlight that nine percent of EAC patients harbor mutations in cancer-predisposing genes, shedding light on the causes of progression to the disease and new possibilities for screening and treatment.
This
Gfx-Study was based on genomic data from 640 individuals with EAC, pooled from public U.S. and U.K.databases
5GFX-59 % had highly rare, cancer-predisposing germline mutations, most commonly in the ATM gene
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