Understanding, Diagnosing, and Using Genetic Testing for Sigmoid Colon Cancer

Sigmoid colon cancer

Expert Reviewed By: Dr. Brandon Colby MD

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Sigmoid colon cancer is a type of colorectal cancer that occurs in the sigmoid colon, the S-shaped last part of the large intestine leading to the rectum. This article aims to provide a comprehensive understanding of this disease, its diagnosis, and the role of genetic testing in managing it.

Understanding Sigmoid Colon Cancer

Sigmoid colon cancer develops when malignant cells form in the tissues of the sigmoid colon. These cancerous cells can grow uncontrollably, forming tumors that can spread to other parts of the body. Symptoms may include changes in bowel habits, blood in the stool, abdominal discomfort, and unexplained weight loss.

The exact cause of sigmoid colon cancer is not known, but several risk factors have been identified. These include age (most cases occur in people over 50), a family history of colorectal cancer, certain genetic mutations, a diet high in red or processed meats, smoking, and a sedentary lifestyle.

Diagnosing Sigmoid Colon Cancer

Early detection of sigmoid colon cancer is crucial for effective treatment. The diagnostic process typically involves a combination of medical history, physical examination, and various tests.

Colonoscopy

A colonoscopy is the most common and effective method for diagnosing sigmoid colon cancer. During this procedure, a long, flexible tube with a camera is inserted into the rectum to examine the entire colon and rectum for abnormalities.

Imaging Tests

Imaging tests such as CT scans, MRI, and PET scans can help determine the extent of the cancer and whether it has spread to other parts of the body.

Biopsy

If a suspicious area is found during a colonoscopy or imaging test, a biopsy may be performed. This involves removing a small sample of tissue for examination under a microscope to check for cancer cells.

Genetic Testing and Its Uses for Sigmoid Colon Cancer

Genetic testing can play a significant role in the diagnosis, treatment, and management of sigmoid colon cancer. It involves analyzing a person's DNA to identify genetic mutations that may increase the risk of developing cancer or affect the course of the disease.

Identifying Genetic Mutations

Genetic testing can identify specific mutations in genes such as APC, KRAS, and TP53 that are associated with an increased risk of sigmoid colon cancer. Knowing whether a person carries these mutations can help in assessing their risk and implementing preventive measures.

Personalized Treatment Plans

Genetic testing can also help in developing personalized treatment plans. For example, if a tumor has specific genetic mutations, targeted therapies that specifically attack those mutations can be used. This can improve the effectiveness of treatment and reduce side effects.

Family Risk Assessment

Since some genetic mutations associated with sigmoid colon cancer can be inherited, genetic testing can help assess the risk for family members. If a person is found to carry a hereditary mutation, their relatives can also be tested and monitored more closely for early signs of cancer.

Monitoring and Surveillance

For individuals with a known genetic predisposition to sigmoid colon cancer, regular monitoring and surveillance can be crucial. Genetic testing can guide the frequency and type of screenings needed to detect cancer at an early, more treatable stage.

Conclusion

Sigmoid colon cancer is a serious condition that requires prompt diagnosis and treatment. Understanding the disease, recognizing the symptoms, and undergoing appropriate diagnostic tests are essential steps in managing this cancer. Genetic testing offers valuable insights that can guide personalized treatment plans, assess family risk, and ensure effective monitoring and surveillance. By leveraging the power of genetic testing, we can improve outcomes and provide better care for individuals affected by sigmoid colon cancer.

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About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠ACMG), an Associate of the American College of Preventive Medicine (⁠ACPM), and a member of the National Society of Genetic Counselors (NSGC)