Role of a Rare Variant in < b > < i > APC < /i > < /b > Gene Promoter 1B Region in Classic Familial Adenomatous Polyposis

Conclusions: The variant (c.-190G#x3e;A) in theAPC promoter 1B region is able to cause FAP with a classic phenotype, but this kind of variant in the noncoding region could be missed by conventional genetic testing. Thus, utilizing sequencing technologies covering a larger area can help us to further explore the pathogenesis in variant-negative FAP cases.Digestion
Source: Digestion - Category: Gastroenterology Source Type: research