Rare mutations in NTHL1 gene previously associated with colorectal cancer, also cause breast cancer and other tumors. Researchers from Radboud University Medical Center, Leiden University Medical Center and Princess Maxima Center in The Netherlands published the data on the new mnogoopuholevom syndrome in Cancer Cell. Nikolin Hugerbryugge, professor of hereditary cancer, explains: "We assume that we know everything mnogoopuholevye syndromes, but made another step in the detection of cancer genes."
Previously, researchers have shown that mutations in the gene NTHL1 lead to intestinal polyps that may develop into colorectal cancer. However, they noticed that patients with mutations in this gene are often other types of cancer. In their publication the researchers describe 17 families, in which the representatives of the same generation have a mutation in the gene NTHL1. Half of these patients developed various types of cancer.
Mutations in the gene NTHL1 very rare. They lead to cancer only when the mutation is inherited from both parents. Researchers estimate that it occurs in 1 out of 115,000 people. The syndrome is difficult to detect, because it leads to cancer in only one generation of the family. "Currently, we are already testing patients with multiple intestinal polyps to mutations in the gene NTHL1, but now know that we should do it for a larger number of patients. In the long term we want to be screened for mutations in the gene NTHL1 in patients diagnosed with multiple cancers, as well as in patients who have brothers or sisters with several types of cancers, "- says Hugerbryugge.
Improving the characteristics of the patients with mutations in the gene NTHL1 can lead to a better assessment of lifetime risk of developing certain types of cancer. The researchers recommend to examine patients with mutations in the gene NTHL1 for various types of cancer, including colorectal cancer and breast cancer.
The scientists used a new method to determine what NTHL1 mutations also cause breast cancer and other cancers. This method is based on the fact that mutations in the gene cause NTHL1 specific mutations in the DNA of the tumor. In the future, this method can be used to identify new genetic causes of cancer. "It is described more than 30 of these mutational patterns. If all of the tumor in a patient with multiple types of cancer have the same pattern of mutation, it is a clear sign that there is a genetic reason. This means that these tumors have evolved identically ", - says Roland Kuiper, a molecular geneticist at the Center of Princess Maxima.
NTHL1 involved in DNA repair and recognizes a specific form of the DNA damage. If the gene happens NTHL1 mutation protein NTHL1 absent. Consequently, this particular form of DNA damage is not recognized or is eliminated, which leads to accumulation of mutations that cause cancer. Due to mutations in the gene NTHL1 mistakes in DNA are not corrected. These errors occur in certain areas of DNA, leading to mutations recognizable model.