ONCOPOLE – Functional analysis of the inherited N363K POLE mutation in highly aggressive colon cancers and glioblastomas

In rare cases, the occurrence of cancer is linked to an inherited genetic mutation, in which case there is a familial predisposition. Several genetic syndromes predispose to colorectal and endometrial cancers. One of these is linked to the POLE gene.
POLE has an important role in maintaining DNA fidelity during DNA copying before cell division. It allows the DNA to be copied without too many errors. When there are mutations and therefore abnormalities of POLE, there is an increased risk of colorectal and endometrial cancer.

But there is a particular POLE mutation, found in a family followed at the Oncopole in Toulouse, which also leads to a risk of glioblastoma brain cancer.

The hypothesis is that this particular mutation leads to increased DNA copying errors with additional chromosome abnormalities and chromosome breaks.

A better understanding of these POLE mutations would advance knowledge in genetics and oncogenetics and could have a therapeutic impact.

The ONCOPOLE project is coordinated by Dr. Malik LUTZMANN and Prof. Rosine GUIMBAUD and has received €100,000 in support from the Claudius Regaud Institute / Toulouse University Cancer Institute.

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