Know Your Risk: The Role of Genetic Testing in Colon Cancer Prevention
Colorectal cancer is the third most common type of cancer in the world, according to the World Health Organization. More than 900,000 individuals died due to colorectal cancer in 2020. In 2024, there are estimated to be over 106,590 new cases of colon cancer, and 46,220 new cases of rectal cancer in the United States. People who have cases of colon cancer and rectal cancer that have not spread beyond the colon or rectum have average 5-year survival rates of 91% and 90% respectively. Additionally, there is a high level of emotional impact on patients and their families who fight through the traumatic process of colorectal cancer and its treatment.
March is Colorectal Cancer Awareness Month, and we at My Precious Genes want to raise awareness about this serious condition, and how your genetics can play a role as a risk factor for colorectal cancer. Genetic testing can be a major preventative measure for colorectal cancer, and a stage 1 diagnosis often means an over 90% 5-year survival rate.
Approximately 5-10% of people are born with a single gene not working correctly that can predispose them to get diagnosed with colorectal and other cancers; these are called hereditary cancers. One major example of a hereditary colorectal cancer syndrome is Lynch syndrome, which predisposes individuals to colorectal cancer. People with uterus and ovaries also have a higher chance to not only develop uterine and ovarian cancer. Lynch syndrome can potentially develop other cancers as well including stomach, small bowel, pancreas, kidney, bladder, ureters, brain and rare skin tumors called sebaceous gland neoplasms. Lynch syndrome occurs in people who inherit certain genetic changes called mutations in genes such as EPCAM, MLH1, MSH2, MSH6, and PMS2 and children of individuals with Lynch syndrome have a 50% chance of inheriting it since Lynch syndrome is an autosomal dominant condition.
“In 2024, there are estimated to be over 106,590 new cases of colon cancer, and 46,220 new cases of rectal cancer in the United States. People who have cases of colon cancer and rectal cancer that have not spread beyond the colon or rectum have average 5-year survival rates of 91% and 90% respectively. ”
Another hereditary colorectal cancer syndrome that can predispose one to colorectal cancer is familial adenomatous polyposis (FAP). FAP can increase the risk of colorectal cancer in a person due mainly to mutations in the gene which can cause the colon to develop hundreds to thousands of precancerous polyps called adenomas. If not treated, FAP has a nearly 100% lifetime risk of developing colorectal cancer.
When genetics contribute to an individual’s risk of developing a disease, people can look to genetic counseling to help them understand and manage the condition. Genetic counseling is the process by which a specialized healthcare provider called a genetic counselor can analyze a patient’s genetic profile and glean crucial information from it, or recommend specific genetic tests to try and identify a hereditary cause of an individual’s personal and/or family history of cancer. Genetic counselors upon looking at the information can advise and interpret tests, work with your healthcare providers to plan cancer screening regimens, and raise the option of specific cancer treatments. This applies to all cancers, not just colorectal cancer.
At My Precious Genes, we have an oncology support line ready to assist you with anything related to colorectal or other cancers. With us, a client never needs to worry about talking to an AI Chatbot when receiving oncology assistance. We are committed to using 100% human interactions throughout the counseling process. Furthermore, using our services will allow clients to see the same genetic counselor every visit. Since we utilize a specialty model, our cancer genetic counselors have specific expertise and are uniquely positioned to assist patients with colorectal health concerns. Timing and efficiency are of the utmost importance regarding personal matters like this. Our counselors are accessible within 48 hours to address client concerns. Using our telehealth model also allows our clients to receive this sensitive information from the comfort of their own homes. My Precious Genes is committed to giving those with colorectal cancer risk factors and diagnoses the right resources for them.
Colorectal cancer is a serious disease that affects far too many people in the United States and worldwide. At My Precious Genes, we want to highlight the impact and experiences of those dealing with it. We would like to educate the masses about genetic predispositions to colorectal cancer, and the utility of genetic counseling. Through our services, we want to be part of the collective effort to tackle colorectal cancer more effectively today and in the future.
By: Scott Weissman, MS, CGC and Sahil Kattar
