The functional in vitro assays discriminate between pathogenic CDH1 missense mutations (impairing cell adhesion and leading to invasion) and those that do not affect the phenotype.

What mutations affect phenotype?

Recessive mutations lead to a loss of function, which is masked if a normal copy of the gene is present. For the mutant phenotype to occur, both alleles must carry the mutation. Dominant mutations lead to a mutant phenotype in the presence of a normal copy of the gene.

What are the effects of missense mutation?

Missense mutations can affect DNA-transcription factors resulting in altering the expression of the corresponding protein. Altering the wild-type protein expression in the compartment where it is designed to function will disrupt the normal cell cycle and in turn may cause diseases [20].