Genetic testing for colorectal cancer

Colorectal cancer is a dangerous disease that can be life-threatening if not detected early and treated promptly. The question many people ask is whether colorectal cancer is hereditary and if so, can genetic testing help detect this disease early?

Colorectal cancer is a cancer that starts in the colon or rectum and the name of the disease depends on where the tumor begins, so it can be called colon cancer or rectal cancer. Family history is an important part of colorectal cancer risk. According to studies, about 5-10% of colorectal cancer cases are hereditary (familial). Hereditary cancer occurs when changes or mutations in genes are passed down from the patient's parents and these mutations cause familial cancer syndromes, which can lead to cancer. However, it is not possible to say with certainty that when someone in the family has cancer, everyone will get the disease. Therefore, genetic mutation testing is a way to identify the risk of developing cancer in later generations.

Gene mutations are likened by scientists to a typo in the genetic code of a gene. People with genetic mutations may have a higher-than-average risk of developing certain cancers.
The three syndromes that most commonly cause hereditary colorectal cancer are:
Hereditary nonpolyposis colorectal cancer (HNPCC): Also known as Lynch Syndrome. About 2-4% of colorectal cancers are caused by this syndrome. The genes most commonly affected in HNPCC include MLH1, MSH2, MSH6 and PMS2. People with this syndrome have a higher risk of developing colon cancer than the general population. In addition, they also have a higher risk of stomach, ovarian and some other cancers. Familial adenomatous polyposis (FAP): The gene affected in FAP is the APC gene that causes a person to develop multiple tumors (called polyps) in the colon and rectum. This can happen in both men and women and can start in adolescents and adults. So many polyps grow to the point where there is a high risk that one or some of them will become cancerous. About 1% of all colorectal cancer cases are caused by this syndrome. Without prompt treatment, most people with FAP will develop colon or rectal cancer by the age of 40. People with FAP are also at increased risk of developing tumors in other parts of the body including the thyroid gland, pancreas, or liver. The two subsets of this syndrome are attenuated FAP (AFAP) and Gardner syndrome. APCI 1307K: This mutation occurs on the same gene that causes FAP. And like FAP, it causes many polyps in the colon and rectum, which can lead to colon or rectal cancer at a young age. However, this mutation has only been found in individuals of Ashkenazi Jewish ancestry. Other syndromes that can lead to colorectal cancer include:
Peutz-Jeghers syndrome (PJS): This syndrome can cause a certain type of polyp or tumor to grow in the intestine called a “tumour.” hamartoma meat". This syndrome poses a much higher risk for colorectal cancer, as well as cancers of the pancreas, breast, and ovary, among others. The affected gene in PJS is the STK11 (LKB1) gene. MUTYH-associated polyposis (MAP): This syndrome also causes many polyps to form in the colon and puts you at increased risk of colorectal cancer as well as other cancers of the digestive tract and thyroid. The affected gene in MAP is the MUTYH gene.

If someone in your family has colorectal cancer or polyps, the members themselves will have a higher risk of colorectal cancer. Your family risk of colorectal cancer is higher if you have one of the following:
A first-degree family member such as a parent, brother or sister has had cancer. Two or more first-degree or distant family members with cancer. Two or more family members at grade 1 or higher have colorectal cancer. Family members were diagnosed with cancer at an early age. When there is a family history of colorectal cancer, the first step to take is to test for a family member who has had colorectal cancer. If the person himself is found to have a harmful gene mutation, other family members can be tested to see if they carry the same mutation.
If you are concerned that you or your family have a genetic mutation or syndrome, you can see a genetics specialist in person. They will look at the risks and benefits of the test and how the results will affect future cancer prevention and screening recommendations.
Vinmec International General Hospital currently has a team of leading medical professionals with rich experience in the field of colorectal cancer diagnosis and treatment, supported by a system of modern and fully equipped technology equipment. enough professional facilities to diagnose the disease and stage it before treatment such as: Endoscopy, CT scan, PET-CT scan, MRI, Mammogram, histopathological diagnosis, genetic testing - cells, ... help detect and treat colon cancer early even when there are no symptoms. Therefore, customers can completely come to Vinmec for an in-depth examination and examination.

Reference source: oncolink.org