• Research about genetic mutations is been done by Chilean researchers: A link between breast and gastric cancer has been discovered

  • “We demonstrate that the BRCA1 gene, the most relevant in hereditary breast cáncer, is also important in family forms of breast cancer”, mentioned Dr. Alejandro Corvalan, from the Advanced Center for Chronic Diseases (ACCDiS ).

  • The discovery has been recently published in the “Gastroenterology” scientific journal.

Most part of hereditary cases of breast cancer are related to two defective genes, one of them, called BRCA1. However, a scientific group – integrated by researchers from several Latin-American countries, including Chile – discovered that this gene also participates in the appearance of family breast cancer. The discovery, recently published in the “Gastroenterology” scientific journal, counted with the participation of the Chilean doctors Dr. Alejandro Corvalan, MD, and Dr. Enrique Norero, MD, researchers at the Advanced Center for Chronic Diseases, ACCDiS .

“Until now, BRCA1 was only described as responsible for breast cancer. Nevertheless, we discovered that is gene also participates in familiar stomach carcinoma, through genetic mutation mechanisms and DNA modification. This implicates that not just the mammary pathology would be caused by this gene, but also it could present hereditary gastric manifestations. Our findings indicate that BRCA1 can work in both ways, and we are describing this process for the first time at international level”, explains the researcher. For Corvalán, this advance constitutes a world-class discovery, because it links two familiar of cancer to a unique gene, relation not been described previously.

Cancer and Genetics

The specialists of the Pontifical Catholic University of Chile (PUC) point out that, previous to the research about the new gene, they focused on the analysis of CDH1 (E-cadherin), a mutation described initially in 1988 in New Zealand and considered, until recently, as the responsible of most part of the hereditary gastric cancer cases

Together with another ACCDiS researcher, Dr. Enrique Norero, started to expand the analysis of the gene mutation by studying more than 50 families, but a very low frequency of the diseases was caused by CDH1. “Clearly, E-cadherin is not responsible for the hereditary form of gastric cáncer, as previously thought. Our expectations were to find a 15% of families, so we could determine that it was an infrequent mutation in Chile. This result took us to broaden the analysis and focus on other genes, such as BRCA”

The specialist, expert in early detection of cancer by using biomarkers, emphasize that despite E-cadherin is not frequent, it does not mean that it is less important in the family gastric carcinoma, because “People with mutations in their CDH gene have an 80% risk of having gastric cancer in the course of their life”

BRCA genes

The genes belonging to the BRCA are able to repair cell damage and to keep the regular growth of mammary and ovary cells, among others. However, when abnormalities or mutations are carried from one generation to other, the BRCA genes do not function properly, considerably enhancing the risk of breast and ovary cancer.

Faulty BRCA1 and BRCA2 can be responsible up to 10% of all breast cáncer cases. Alejandro Corvalán indicates that a 6% of the gastric disease is produced by BRCA1. “This percentage indicates that there is a chance to treat the patient with an early therapy with favorable results”.

“ An important consideration is to think about the possibility of breast cáncer when we analyze a patient with stomach carcinoma. Following the same idea, if there is a family with mammary pathology, it must be considered the gastric variation” adds the expert.

Gastric cancer in Chile

Gastric cáncer is the main death cause among Chilean men. According to the last study of the Global Burden of Disease (GBD) from the University of Washington, Chile has the highest mortality rate of gastric cáncer in America, with 25,4 deaths per 100 000 habitants. The Chilean Ministry of Health, considering the mortality rates and other reasons, considers gastric cáncer as a priority in public health.

“90% of the cases occur after the 60 years. However, the remaining percentage has a hereditary origin, with a different situation: It is very aggressive, occurs in families and also in young people under 40 years old, without precedent”, explains the ACCDiS Principal Investigator.

In hereditary cancer, early diagnose enhances the prognosis. It was estimated that if the cáncer is detected at early stages, 90% of the patients will survive after five years from the diagnose, whereas if the diagnose is done in metastatic stages, life expectations do not surpass the year.

About Dr. Corvalán

The researcher, from the Department of Hematology of PUC, has dedicated a great part of his scientific career to research, focusing on gastric cancer, pathology with the highest mortality rates in Chile.

One of his main scientific findings is the discovery of the Reprimo biomarker, which allows detecting malignant lesions in early stages of the disease when no symptoms are produced. The biomarker, which can be used in a blood sample, has been already used in Chilean population, showing a 70% effectivity in the search of lesions. (By María Mercedes Barraza C. Agencia: Ines Llambias communications).

(By: María Mercedes Barraza C. Agencia: Ines Llambias communications).

Noticia en Medios:

El Mostrador: http://www.elmostrador.cl/vida-en-linea/2017/07/07/descubren-relacion-entre-cancer-de-mamas-y-gastrico-a-traves-de-un-gen/