An international study allows a better prediction of the risk of hereditary cancer

The paper analyzes the role of different genetic variants involved in Lynch syndrome , an inherited disease that increases the risk of various tumors

The study is published in the journal Nature Genetics and has had the participation of Gabriel Capellá and Marta Pineda, form the Hereditary Cancer Program at the Catalan Institute of Oncology ( ICO- IDIBELL)

An international study has developed a refined method to identify people at risk for certain inherited cancer as a result of Lynch syndrome.

The study, published in Nature Genetics have carried out clinical and researchers who are part of the INSIGHT (International Society for Gastroeintestinal Hereditary Tumours ) . Coordinated by Maurizio Genuardi , University of Florence, and Finlay Macrae , Royal Melbourne Hospital , at work and have participated Capellá Marta Gabriel Pineda, Hereditary Cancer Program at the Catalan Institute of Oncology ( ICO- IDIBELL) .

The research is funded by the Spanish Ministry of Science and Innovation and the Scientific Foundation of the Spanish Association Against Cancer .

Hereditary cancer

All cancers are caused by abnormalities in the genetic material of cells , that make them lose their function and become malignant .

Lynch syndrome is an inherited condition that increases your risk of colon cancer and other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC).

A number of inherited syndromes can increase your risk of colon cancer, but Lynch syndrome is the most common. Doctors estimate that about 3 out of every 100 colon cancers are caused by Lynch syndrome.

Families that have Lynch syndrome usually have more cases of colon cancer than would typically be expected. Lynch syndrome also causes colon cancer to occur at an earlier age than it might in the general population.

Gene mutations associated with Lynch syndrome

People with Lynch syndrome have a mutation in one of 4 genes that normally correct mistakes when deoxyribonucleic acid (DNA) is copied during cell division. These genes are called DNA mismatch repair genes (MMR).

The 4 main MMR genes associated with Lynch syndrome are MLH1, MSH2, MSH6 and PMS2. Most mutations (90%) that cause Lynch syndrome are found in the MLH1 or MSH2 genes. The other 2 genes, MSH6 and PMS2, and possibly others, account for the other 10% of mutations.

Researchers have also identified different gene mutations associated with Lynch syndrome, but these are rare. Other mutations may be discovered in the future.

In 90 or 95 % of cases of people with cancer are born with genes functioning properly until, by external factors, for errors that may occur during normal DNA replication or by the passage of time, the genetic material , which had always worked properly, breaks down. When genes embrace alterations or mutations, the cells do not perform its function properly.