[Analysis of APC gene variants in a pedigree affected with familial adenomatous polyposis]
1Department of Rehabilitation, Yiwu Maternal and Child Health Care Hospital, Yiwu, Zhejiang 322000, China. 8017097@zju.edu.cn.
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.
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