It is not clear if the phenotype presented by this patient may be due to the MITF variant, although the same germline mutation found in this patient [p.(Glu425Lys)] was apparently associated to increased risk of developing CRC, especially in second- or third-degree relatives of index patients carrying this germline mutation; however, this was reported in a small number of index patients, and segregation studies were not performed [30]. This evidence concerns the gene MITF and colorectal carcinoma.