Skin cancer and kidney cancer: A single genetic defect to 5 times more likely - Inserm and IGR-Nature

This genetic disorder, called Mi-E318K multiplied by 5 the risk of developing melanoma, kidney cancer. This study, conducted by INSERM and Institut Gustave Roussy Cancer (IGR) is therefore to identify a genetic mutation responsible for a common predisposition to melanoma (skin cancer) and renal cell carcinoma (kidney cancer) . The results of this study, published on the website of the journal Nature, highlight the first risk factor common to both types of cancer and could lead to the identification of new therapeutic targets.


The mutation in question is called Mi-E318K, it appears on the gene coding for a protein called MITF (transcription factor associated with microphthalmia) and gives this mutated gene overactivity leading to increased risk of melanoma and kidney cancer individuals carrying this mutation.


A recent study showed the coexistence of melanoma and renal cell carcinoma in some patients. Kidney cancer is often discovered after a diagnosis of melanoma during the staging. To date, no environmental risk factor common to melanoma and kidney cancer had been detected. This suggests the existence of a common genetic predisposition to these cancers.


A group of researchers has suggested that the MITF gene could be involved in this phenomenon as described as oncogene (cancer accelerator) in melanoma and known to be involved in cell activation pathway involved in the development of kidney cancer . The team was able to identify an abnormality in the DNA sequence, the codon 318, the MITF gene. This anomaly was found in 8% of patients with both melanoma and kidney cancer.


"The anomaly, called Mi-E318K, when present in individuals, multiplied by 5 the risk of developing melanoma, kidney cancer."


These results open up many opportunities for development in clinical applications and research: A screening test could be developed in order to find this mutation in patients with either melanoma or kidney cancer. The change would become a biomarker of risk, which, if present, would indicate the need for special surveillance in the kidney and skin. Solar prevention advice could also be given to people with renal cell carcinoma, with fair skin and / or are carriers of many moles. In research, this work sheds new light, to deepen, the signaling pathways involved in oxidative stress (UV and / or hypoxia) and the development of cancer.