Table 2.

Summary of heterozygous deleterious ATM variants found in patients with pancreatic cancer

VariantPancreatic cancer typeNucleotide (genomic)aNucleotide (cDNA)bAmino acid (protein)cTypeNumber of affected individuals sequenced
1Familialdg.chr11:107711896A>Tc.8266A>Tp.K2756XNonsense3
2Familialeg.chr11:107603810G>Ac.170G>Ap.W57XNonsense3
3Familialg.chr11:107648719G>Tc.3214G>Tp.E1072XNonsense1
4Familialg.chr11:107691848G>Ac.6095G>Ap.R2032KMissense1
5Familialg.chr11:107693309G>TIVS41-1G>TspSplice site1
6Familialg.chr11:107660218delGc.3801delGfsINDEL1
  • a Genomic positions are coordinates in the March 2006, hg1836.1 UCSC release of the human genome. Genomic coordinates and sequences of mutations are on the coding strand. All changes are heterozygous. g., genomic sequence; c., cDNA sequence; p., protein sequence; del, deletion.

  • b Mutations in non-coding sequences are annotated by intron number preceded by “IVS”, with positive numbers starting from the G of the GT splice donor site and negative numbers starting from the G of the AG splice acceptor site.

  • c fs, frameshift mutation; sp, splice site mutation.

  • d Family FPC-A.

  • e Family FPC-B.