One gene, three types of cancer

Jun 25, 2013

French scientists have discovered that a BAP1 gene mutation causes a predisposition to kidney cancer. The mutation has been known to play a role in eye cancer (retinoblastoma or uveal melanoma as well as in mesothelioma). The researchers at the Institute Curie’s department of genetics in Paris have published their findings in the “American Journal of Human Genetics”.

For the study, the scientists analyzed data from a family with a history of many unexplained cases of cancer. One family member who developed multiple instances of cancer was observed over an extended period of time; however, no change in genetic predisposition for that particular tumour was found.

The BAP1 mutation was only discovered after examining the genome. An analysis of kidney tumours confirmed the findings. The malignant cells contained only the mutated version of the gene.

In a cooperation with two other research teams, the scientists found 11 families with the BAP1 mutation. They were able to ascertain that six families showed an unusually high number of cases of kidney cancer. Of the nine persons to have developed kidney cancer, genetic analysis of four family members’ tumours showed the BAP1 gene to be inactive in malignant cells.

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One day we will have identified the genes that cause a variety of cancers. We already have done this from Breast, Ovarian and Cervical cancers. Discoveries of genes that produce certain types of leukemia have treatments based upon genes that cause the disease. Today, we are seeing discoveries like this one and our future will hold the possibility that we can diagnose and treat these diseases early in their course and save lives. One day we will supply a drop of blood and hundreds of disease markers will be analyzed. That day is getting closer and closer.

Tags: cancer, genes