i3S researchers set guidelines for HDGC

A worldwide consortium of specialists, comprising three research groups from i3S, has published in the scientific journal Lancet Oncology the new international guidelines for the diagnosis, prevention and treatment of the Hereditary Diffuse Gastric Cancer Syndrome (HDGC).

“Two decades after the genetic basis for HDGC syndrome was identified, we got together to define new clinical guidelines and took the opportunity to discuss the expansion of the cause of the disease to a new gene (CTNNA1), as well as the signs of clinical suspicion a new presentations, namely congenital malformations and a type of breast cancer, specifically associated with the loss of Cadherin-E”, explains Raquel Seruca, leader of the i3S research group Epithelial Interactions in Cancer.

This meeting in New Zealand, adds Carla Oliveira, leader of the Expression Regulation in Cancer group, had the special participation of families carrying mutations in the CDH1 gene, including the first to be described in the article reporting the discovery of the syndrome. “The presence of families at this meeting made it a special occasion, creating the opportunity to hear real clinical testimonies, in the first person, but also to show those suffering from the disease the important contributions of many scientists and health professionals”, she added.

The i3S researchers have been playing an active and fundamental role since the first day in the worldwide consortium that studies this disease. This is the case for the pathologist Fátima Carneiro, from the Intercellular Communication and Cancer group, who was the first to describe the microscopic characteristics of the disease in the stomach and is currently a worldwide consultant in the field of this pathology.

Considered international references, Raquel Seruca and Joana Figueiredo have focused their attention on discovering the invasion mechanisms linked to the loss of function of the Caderina-E protein, using a particular type of mutation. Researcher Carla Oliveira, for her part, has focused her work on discovering new causes of hereditary disease, and is currently leading a European project on this topic.

“The product of the work of these three research groups at i3S has been instrumental in advancing the understanding of the disease, its screening and early diagnosis, prevention and treatment”, underlines Joana Figueiredo.

The scientific article now published, says Fátima Carneiro, represents “an essential tool that will help clinicians and patients around the world who one day are faced with the diagnosis of this disease”. In terms of research, adds Raquel Seruca, “the investment in the study of this disease, in a complementary way by a group of scientists from the same institute, has been a success and projects the Portuguese institution and research at the highest level”.