Gabriel Capellá and Marta Pineda, from the Hereditary Cancer Programme of Catalan Institute of Oncology (ICO-IDIBELL) are amongst the authors of an International study on hereditary sequence variants related to Lynch syndrome.
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and endometrium, being responsible of 2-5% of cases. This study, published in Nature Genetics, focused in the genetic causes of Lynch’s syndrome. Researchers compiled data on thousands of genetic variants that could be associated to Lynch syndrome. Finally, they developed a classification scheme to a number of unknown variants in this syndrome. This will facilitate the consistent management of families suspected to have Lynch syndrome.