Analysis of APC gene variants in a pedigree affected with familial adenomatous polyposis.
10.3760/cma.j.cn511374-20200615-00438
- Author:
Yan CONG
1
;
Lin HU
;
Ke WU
Author Information
1. Department of Rehabilitation, Yiwu Maternal and Child Health Care Hospital, Yiwu, Zhejiang 322000, China. 8017097@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Adenomatous Polyposis Coli/genetics*;
Adenomatous Polyposis Coli Protein/genetics*;
Female;
Genes, APC;
Humans;
Male;
Neoplasm Recurrence, Local;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(9):884-886
- CountryChina
- Language:Chinese
-
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.
