Table 1

Identified CDH1 germline alterations in families with lobular breast carcinoma and without aggregation for diffuse gastric cancers

Intron 1c.48+1G>ASplicing sitePetridis et al 18
Exon 2 88C>A [P30T]*MissenseSchrader et al 110
Exon 3Del_exon 3DeletionBenusiglio et al 5
Exon 3c.283C>TStop codonXie et al 111
Exon 4c.517insAInsertionMasciari et al 61
Intron 7c.1008+1G>ASplicing siteBenusiglio et al 5
Exon 9c.1223C>T [A408T]†MissenseSchrader et al 110
Exon 9c.1297G>A [D433N]†MissenseSchrader et al 110
Exon 10c.1465insCInsertionPetridis et al 18
Exon 11c.1582delDeletionXie et al 111
Exon 12c.1774G>A [A592T]*MissenseStuebs et al 20
Exon 131942G>T [E648X]†Non-sensePetridis et al 18
Intron 13c.2164+2T>ASplicing siteBenusiglio et al 5
Exon 15c.2398delCDeletionPetridis et al 18
Exon 16c.2494G>A [V832M]*MissenseSchrader et al 110
Exon 16c.2512A>G [S838G]†MissenseStuebs et al 20
  • *Classified as ‘benign’.

  • †Classified as ‘VUS’.

  • VUS, variant of uncertain significance.