Short Description

NGS genetic DNA test detecets for variant and mutation detection in CCND1 gene for Colorectal cancer, hereditary, susceptibility to

PreTest Information

Clinical History of Patient who is going for CCND1 Gene Colorectal cancer, hereditary, susceptibility to NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCND1 Gene Colorectal cancer, hereditary, susceptibility to NGS Genetic DNA Test gene CCND1

Detail Description

CCND1 Gene and Its Role in Colorectal Cancer: Understanding Hereditary Susceptibility and NGS Genetic DNA Test

Colorectal cancer is one of the most common types of cancer, affecting millions of people worldwide. It is caused by the abnormal growth of cells in the colon or rectum, and is often linked to genetic mutations that increase the risk of developing the disease. One such gene that has been extensively studied in the context of colorectal cancer is the CCND1 gene.

The CCND1 Gene and Colorectal Cancer

The CCND1 gene, also known as cyclin D1, is responsible for producing a protein that plays a key role in the cell cycle. This protein helps regulate the growth and division of cells, ensuring that they divide and reproduce in a controlled manner. However, mutations in the CCND1 gene can lead to the overproduction of the cyclin D1 protein, which can cause cells to divide uncontrollably and form tumors.

Studies have found that mutations in the CCND1 gene are associated with an increased risk of developing colorectal cancer. In particular, a variant of the gene known as A870G has been linked to a higher risk of developing the disease. This variant has been found in up to 30% of patients with colorectal cancer, and is believed to be especially prevalent in individuals with a family history of the disease.

Hereditary Susceptibility to Colorectal Cancer

Colorectal cancer can be caused by a combination of genetic and environmental factors. However, in some cases, the disease may be inherited from one or both parents. Hereditary colorectal cancer syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP), are caused by specific genetic mutations that increase the risk of developing the disease.

Individuals with a family history of colorectal cancer, particularly those with a first-degree relative who has been diagnosed with the disease, are at a higher risk of developing the disease themselves. This increased risk is thought to be due to inherited genetic mutations that predispose them to the disease.

NGS Genetic DNA Test for Colorectal Cancer

NGS (next-generation sequencing) genetic DNA tests are a powerful tool for identifying genetic mutations associated with colorectal cancer. These tests use advanced sequencing technologies to analyze a patient's DNA and identify specific mutations that may increase their risk of developing the disease. NGS tests can also be used to identify mutations in genes such as CCND1 that may be associated with hereditary susceptibility to the disease.

The cost of NGS genetic DNA tests for colorectal cancer varies depending on the specific test and the laboratory performing the test. In India, the cost of these tests can range from INR 10,000 to INR 30,000 or more.

Symptoms and Diagnosis of Colorectal Cancer

Colorectal cancer often presents with no symptoms in its early stages, which is why regular screening is important for early detection and treatment. However, as the disease progresses, symptoms may include:

• Changes in bowel habits, such as diarrhea or constipation
• Blood in the stool
• Abdominal pain or cramping
• Unexplained weight loss

Diagnosis of colorectal cancer typically involves a combination of tests, including:

• Colonoscopy: a procedure in which a thin, flexible tube with a camera is inserted into the rectum to examine the colon and rectum
• Biopsy: a sample of tissue is taken from the colon or rectum and examined under a microscope to look for cancer cells
• Imaging tests, such as CT scans or MRI, may also be used to help diagnose and stage the disease

Conclusion

The CCND1 gene is an important genetic marker for hereditary susceptibility to colorectal cancer. NGS genetic DNA tests are a powerful tool for identifying mutations in this gene and other genes associated with the disease. Early detection and treatment of colorectal cancer is critical for improving outcomes, which is why regular screening is recommended for individuals at increased risk of the disease.

However, it's important to note that colorectal cancer susceptibility is more commonly linked to other genes, such as those involved in DNA repair (e.g., the Lynch syndrome genes, including MLH1, MSH2, MSH6, PMS2) and genes related to familial adenomatous polyposis (APC) or MUTYH-associated polyposis (MAP).

If there have been new developments or discoveries since my last update, I recommend consulting recent medical literature or genetic testing providers for the most up-to-date and accurate information. If you're considering genetic testing for hereditary colorectal cancer susceptibility, I strongly advise consulting with a medical geneticist, genetic counsellor, or healthcare professional who specializes in genetics. They can provide you with personalized guidance based on your medical history and family background.