Analysis of APC gene variants in a pedigree affected with familial adenomatous polyposis / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a pedigree affected with familial adenomatous polyposis (FAP).@*METHODS@#The proband, with recurrence of blood in the stool, was diagnosed with FAP by endoscopy, pathological examination and a family history. She was subjected to next generation sequencing to detect genetic variant. Suspected variant was verified by Sanger sequencing of members from her pedigree.@*RESULTS@#The proband, her mother and brother were found to carry a heterozygous c.532-1G>A variant of the APC gene, which may lead to aberrant splicing of mRNA resulting in a truncated protein, which may lose its normal function and promote the tumorigenesis. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.532-1G>A variant of APC gene was predicted to be pathogenic(PVS1+PP1+PP4+PP5).@*CONCLUSION@#The c.532-1G>A variant of the APC gene probably underlay the pathogenesis of FAP in this pedigree.