Discovered in Chile variation genetics of cancer gastric unique in the world
23-year-old, affected by this disease, is carrier of a mutation that until now not had been described. Research studies this type of cancer and performs testing genetic to identify this particular variation.
The cancer gastric or of stomach is the cancer more frequent among them men Chilean and that more deaths cause. A year they are killed around 2,500 people for their cause. 90% of them have about 60 or 70 years.
The remaining 10% have a hereditary origin and the situation is different in this group.
In 1998 a group of researchers from New Zealand discovered a gene that is present in the gastric cancer hereditary: the CDH1. To date more than 100 mutations related with this type are known and that are located in any region of this same gene. People who have mutations in CDH1 gene have an 80% risk of a gastric cancer throughout his life.
In the moving Center of chronic disease (Accdis), a Fondap-Conicyt instance, a group of scientists studying the presence of this gene among patients Chilean with cancer gastric hereditary. The experts discovered a 23-year-old patient, affected with this wrong, but whose genetic mutation is unique in the world.
Experts say that it is now necessary to also search persons who have this mutation.
Enrique Norero, the network health UC Christus digestive surgeon, of the Hospital Sotero of the river and member of Accdis , It says that to date it is investigating more than 30 Chilean families with various alterations in this gene. In the next days will begin also with them analysis to the family of the young that until today has this exclusive mutation, to know if other members of your family also have this variation up to now unknown.
"The hereditary cancer, as well as sporadic cancer, presents with abdominal pain, low weight, vomiting and digestive bleeding, but it occurs at much earlier ages, before age 50 and, even, We have little more than 20 years", says Norero.
Patients participating in the research protocol must be presented gastric cancer before age 50 or have two or three relatives who have had the disease. A time in the Protocol, they are served by specialists who evaluate their background, they made medical history, the family tree and perform the blood samples in search of genetic mutations.
The samples analyzed in Chile and also sent to researchers from California and New Zealand who discovered this gene and that are also involved in this research.
When it's a hereditary cancer, an early diagnosis helps to a better prognosis. It estimates that if it is detected when the cancer is still incipient, 90% of patients are alive five years from diagnosis. If it is made in stage metastatic, survival is not more than one year.
"On the hereditary gastric cancer genetics is the main component, more than the healthy lifestyle and good habits which that person can be. By the same, is recommended to those who have a history of this cancer in the family an endoscopic follow-up to try to search it on time", emphasizes the doctor Norero.
Source: La Tercera