Table 1

CDH1 variants identified in patients with colorectal cancer (CRC)

AlterationLocationTypeFamiliesCRC casesOther tumoursReferences
c.45_46insT (p.Gln16Serfs*18)Exon 1Frameshift12HDGC and LBC. 33
c.49-2A>GIntron 1Splice site11HDGC and lung. 31
c.49-2A>CIntron 1Splice site11Breast, skin prostate, bladder, pancreas and throat. 27
c.1008G>TExon 7Splice site12HDGC. 13
c.1018A>G (p.Thr340Ala)Exon 8Missense22HDGC† and ovary.† 71 33
c.1225T>C (p.Trp409Arg)Exon 9Missense11 (SRCC)DGC. 15
Exon 12Missense23DGC and breast andrenal. 72 69
  • For each mutation, the affected site, type of mutation, number of families and carriers affected by CRC and other tumours described in the same genetic background are assigned.

  • *Classified as non-pathogenic in ref 69.

  • †Described elsewhere.

  • DGC, diffuse gastric cancer; HDGC, hereditary diffuse gastric cancer; LBC, lobular breast cancer; SRCC, signet ring cell carcinoma.