Genetic Study: Colon Cancer

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

Genetics is an essential tool in Medicine as 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 genetic study in Spain, of 100% of the affected genes that cause colon cancer and thus rule out if it is hereditary or take preventative measures.

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

Familial Adenomatous Polyposis (FAP)

FAP is a hereditary illness characterised 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 it is accompanied by gastric polyps and other digestive symptoms.

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

No Polyposis Hereditary Colon Cancer (NPHCC)

NPHCC is a hereditary illness that causes 5% of all colon cancer cases. It is characterised by the early development of colon cancer and it has a high tendency of producing tumours at the same time or after the appearance of cancer, in the rectal colon, as well as in other organs. Mutations in the genes have been identified as being responsible for this pathology: hMLH1, hMSH2, hMSH6 and PMS2. Around half of these cases are due to the gene mutation hMLH1 and almost 50% are due to the gene mutation hMSH2. The cause of the rest of the group is down to other gene mutations (hMSH6, PMS2).

Situations where a genetic study is advised:

• Three or more family members affected by a neoplasia of NPHCC and one of them being a first grade relative in relation to one of the other two.
• At least two consecutive generations being affected.
• One of the patients being diagnosed before the age of 50.

For a specific assessment of your illness you can request an appointment or, if you can not come to our clinic, you can request an on-line medical appointment or do test in the comfort of your home: Please request a personalize kit for the test.

The test

The test to determine if a person is affected by an illness 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 sterilised cotton swab, 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 your fingers. Once you have taken the sample and packed them away appropriately, as shown in the instructions, send it back to us together with the appropriate filled-in forms you also received with the kit.