New gene found to cause hereditary colorectal cancer – VRT News

The Department of Genetics of the Radboud UMC says that in the past two years, worldwide for new is sought which could lead tit cancer in large groups of patients, but it had little success.

The Dutch researchers have done differently, and their research is limited to a smaller groep.Uiteindelijk remained after selecting 51 patients, whose entire genome, all the genes , were mapped. It showed that in three families there are multiple patients flaws in the NTHL1 gene.

Repair

The mutated NTHL1 gene disrupts a specific repair mechanism of the DNA in the cell. If a tumor is found, can now be quickly determined whether NTHL1 the defective gene is responsible.

Children of patients with the mutated gene NTHL1 not run an increased risk of colon cancer. Both the mother and the father must indeed pass the defective gene, otherwise their child is not at risk to get the newly discovered form of hereditary colorectal cancer. And the probability that both the father and the mother have a NTHL1 mutated gene is very small.

“In fact we do with this inherited form of colon cancer alone to investigate the siblings of the patient Notwithstanding the same, “said Professor hereditary cancer Nicoline Hoogerbrugge of the Radboud UMC and one of the authors of the study on the gene, the NOS. If it appears that the siblings also have the mutated gene, then doctors can timely remove polyps for which develop into colon cancer.

Uncertainty

To identify new genes that can cause cancer, is among more important to eliminate uncertainty for relatives of patients.

In about one third of patients, the cancer is caused by a genetic defect. At ten percent of those patients is known by which the cancer is caused mutated gene.

Of the remaining patients, the vast majority is not known what causes it, and that gives a lot of uncertainty when relatives of patients about the risk of cancer. “The detection of new genes is push very important, but it is becoming increasingly difficult,” said Professor Hoogerbrugge. “Fortunately wer here now found again.”

The study on the defective gene is published in “Nature Genetics”.

” Piece of Puzzle “

” The results of this study represent a step forward, there is a small piece of the puzzle down, “said the Flemish cancer specialist Luke Cole Mont. “All in all, however, it is a very small percentage of cancer cases. The key is early detection of the disease, and that with a simple test.”

Colemont is co-founder of the association “Stop cancer “. He stressed the importance of colorectal cancer screening currently running, asking at the same time more attention to the disease. “Too few people know about colon cancer and know that it can be detected early with a simple test,” said Cole Mont.

The aim of screening is to prevent a year to 400 deaths.

Each year more than 5,000 Belgians are told that they have cancer.