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

Sanger sequencing was conducted to verify the identified candidate variants. PCR primers were designed by using the Primers5 tool and the sequences were: F, 5’- GGGTTGGACAAGTTTGCAATAGT-3’; R, 5’- CAGGAGAGCTTGCTTGTTTTCA-3’. The amplified products were sequenced on an an ABI PRISM 3730 automated sequencer (Applied Biosystems, Foster city, CA, USA) and raw data were analyzed using Blast (https://blast.ncbi.nlm.nih.gov/Blast.cgi).  The frameshift mutation caused a deletion of nucleotides from No. 7141 to 7151 in coding region, resulting in a change of 2381 amino acid by asparagine.