IBBIOTECH

Experiencia y futuro en biotecnología

Colon cancer genetic study

Please request a personalize kit fir the test

Colon cancer is the second most frequent cause of death by cancer in the western world and around 5% of the population will suffer it.

Genetic is an essential tool in Medicine since a considerable percentage of human health problems have a hereditary component. Any genetic based illness can be diagnosed through molecular biology techniques.

Fortunately, at IB BIOTECH, we can carry out a complete study of the 100% of the affected genes that cause it and then we can rule out the hereditary colon cancer or we can take prevention measures to improve the predisposition to suffer it.

The exact causes of the colorectal cancer are unknown in most cases, although we do know that are risk factors that favour its appearance. Some genetic syndromes increase the risk of developing colorectal cancer. The ones we know most are “Familial Adenomatous Polyposis (FAP)” and “No Polyposis Hereditary Colon Cancer (NPHCC) or Lynch Syndrome”)

Familial Adenomatous Polyposis (FAP)

The FAP is a hereditary illness characterized by the presence of multiple polyps (>100), that cause 1% of all colon cancer cases. Almost all patients will develop colon cancer before the age of 50. Very often is accompanied by gastric polyps and other extra digestive signs.

The identification of the gene APC (Adenomatous Polyposis Coli) mutation, allow us to diagnose the pathology. In addition to the gene APC analysis in the “index case” (the person being diagnose with FAP), it is important to offer the appropriate genetic advise to inform the family members about the risk of the illness, the importance of the illness monitoring and the significance of the genetic test result.

No Polyposis Hereditary Colon Cancer (NPHCC)

It is an hereditary illness that cause 5% of all colon cancer cases. It does characterized by the early development of colon cancer and it has a high tendency to symptoms at the same time of after the first colon cancer, in the rectal colon, as well as other tumours in other organs. There have been identified mutations in the genes hMLH1, hMSH2, hMSH6 and PMS2 as responsible for that pathology. Around half of those cases are due to the gene hMLH1 mutation and almost 50% are due to the gene hMSH2 mutation. The rest of the group are due to other genes mutations (hMSH6, PMS2).

Next we explain some of the situations in which are useful to carry out this study:

Three or more family members affected by a neoplasia of NPHCC and one of them being a first grade relative regarding the other two.
At least two consecutive generations must be affected.
One of the patients affected should be diagnose before the age of 50.

The test

The test to determine if a person is affected by an illness it can be done, preferable, through a blood test, and you can also request a kit to take the samples at home, in this case you will need to take a sample through an oral smear test.

The procedure is very simple. In the kit you will receive, you will find a sterilize cotton/wool tip, with which you will need to rub the inside part of your mouth. Please handle the samples with care. Do not touch the cotton-wool tips with the fingers. Once you have taken the sample and packed away appropriately, as shown in the instructions, you will send it to us together with appropriate filled in forms you received with the kit.

Please request a personalize kit fir the test

Obtaining the sample at home