 skin and colon) cancers as well as non-malignant diseases such as refractory anemia myopathies, and gastroesophageal reflux disease.Two unrelated kindreds were found to have autosomal dominant inherited mutations in the "ETV6" gene, one family with a germline DNA substitution termed L349P that lead to replacing leucine with proline at amino acid 349 in the DNA binding domain of the ETV6, the second, termed N385fs, in germline DNA caused the lose of five base pairs "ETV6" and a truncated ETV6 protein.Both mutant proteins failed to enter cell nuclei normally and had a reduced capacity to target genes regulated by the normal ETV6 protein.