STK11 Gene Analysis Reveals a Significant Number of Splice Mutations in Chinese PJS Patients

ConclusionThe strategy achieved a high detection rate in Chinese people, validating its effectiveness. This cohort comprised a significantly higher proportion of splicing errors, reflecting the unique genetic characteristics Chinese people. No specific genotype-phenotype relationship was noted, while the wide usage of enteroscopy would benefit PJS surveillance.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research