A novel frameshift mutation of the <i>ATM</i> gene in a Chinese family with hereditary gastrointestinal tumors

Gastrointestinal tumor is a common malignancy that dangerous to human health. Some of the patients exhibit familial hereditary syndromes; however, molecular genetics gastrointestinal tumors remain unclear. Here, Chinese family including 21 people was investigated. Among them, three cases were respectively diagnosed with gastric cancer, colon and liver cancer; one case cystic ovarian. Whole-exome sequencing (WES) Sanger applied identify pathogenic mutation four patients. A novel frameshift in exon 49 (c.7141_7151del) ataxia telangiectasia mutated (ATM) gene detected ovarian but absent patient cancer. This co-segregated disease phenotype predicted be pathogenic. The deletion ATM led bases after ATM, ultimately causing protein code terminate at 2,401st amino acids (p.N2381fs). Our results expanded spectrum gene. Taken together, these findings provide vital information about possible detection occurrence progression, contributing towards cancer prevention screening.Abbreviations: ATM: Ataxia mutated; InDels: Insertions deletions; NCCN: National Comprehensive Cancer Network; SNVs: Single nucleotide variations; WES: