Table 1

 Exonic FANCA sequence variants in pancreatic cancer

ExonNucleotide changeFamilial†Sporadics‡ControlsAmino acid changeFA database§
*FA associated variant; †frequency is shown as the number of alleles containing the nucleotide in parentheses over the total number of alleles examined from familial pancreatic cancer samples; ‡ND, not determined; §Y indicates present and N indicates not present in the Fanconi Anemia Mutation Database at http://www.rockefeller.edu/fanconi/mutate/jumpa.html. DNA numbering is based on the cDNA sequence. The GenBank reference sequence and version number NM_000135.1 was used. Position +1 corresponds to the A of the ATG translation initiation codon. Protein sequences are numbered with the initiator methionine as codon 1.
4c.377C>G1/44(G)ND0/115p.Thr126ArgN
7c.661A>G1/44(G)ND0/115p.Met221ValN
13c.1143G>T6/44(T)NDNDNoneY
14c.1235C>T3/44(T)NDNDp.Ala412ValY
16c.1501G>A12/44(A)NDNDp.Gly501SerY
22c.1927C>G8/44(G)NDNDp.Pro643AlaY
26c.2426A>G19/44(G)NDNDp.Glu809AspY
27c.2574C>G*5/154(G)1/12418/848p.Ser858ArgY
30c.2901C>T5/44(T)NDNDNoneY
33c.3263C>T7/44(T)ND8/115p.Ser1088PheY
37c.3654A>G7/44(G)NDNDNoneY
38c.3807G>C5/44(C)NDNDNoneY