Table 2

Germline and somatic MEN1 mutations in subjects with DGAST and PNET

IdentificationTypeSNPExonic functionNucleotide changeAA changeTruncation
DGAST_87*GermlineNovelFrameshiftExon 8: c.1177C>Tp.Gln393StopStop 393
DGAST_215Germliners767319284Frameshift insExon 10: c.1546dupCp.Arg 516 fsStop 529
rs2959656Missense SNVExon 10: c.1621G>Ap.Ala 541Thr
DGAST_219Germliners2959656Missense SNVExon 10: c.1621G>Ap.Ala 541Thr
DGAST_269Germliners2959656Missense SNVExon 10: c.1621G>Ap.Ala 541Thr
DNET_290Germliners2959656Missense SNVExon 10: c.1621G>Ap.Ala 541Thr
PGAST_48Germliners2959656Missense SNVExon 10: c.1621G>Ap.Ala 541Thr
PNET_134SomaticNovelFrameshift insExon 2: c.1_2 ins31nucp.Met1 fsStop 3
NovelFrameshift insExon 2: c.3_4 ins14nucp.Gly2 fsStop 118
Germliners869025185Non-frameshift delExon 8: c.1087_1089delp.363_363 Glu del
rs2959656Missense SNVExon 10: c.1621G>Ap.Ala 541Thr
PNET_136SomaticNovelFrameshift delExon 5: c.817_824delp.Leu 273 fsStop 313
rs2959656Missense SNVExon 10: c.1621G>Ap.Ala 541 Thr
PNET_299SomaticNovelMissense SNVExon 4: c.703G>Ap.Glu 235 Lys
Germliners2959656Missense SNVExon 10: c.1621G>Ap.Ala 541 Thr
PNET_362Germliners540012
rs2959656
Synonymous SNV
Missense SNV
c.1299T>C
Exon 10: c.1621G>A
p.His433His
p.Ala 541 Thr

  • *By clinical testing.

  • AA, Amino Acid; del, deletion; DGAST, duodenal gastrinoma; ins, insertion; PNET, pancreatic neuroendocrine tumour; SNP, single nucleotide polymorphism; SNV, single nucleotide variant.