Colon Cancer with Polyps - Comprehensive Genetic Testing
Colon cancer remains a leading cause of cancer incidence and mortality globally. For individuals with a family history of colon cancer or those diagnosed with polyps, understanding their genetic risk is crucial for effective prevention and management. The MapmyGenome Comprehensive Panel for Colon Cancer with Polyps offers an in-depth analysis of genetic mutations associated with colon cancer and conditions that increase the risk of developing it. This advanced panel provides a thorough assessment of key genes linked to both colon cancer and polyposis syndromes, helping to inform tailored treatment strategies and preventive measures.
The MapmyGenome Comprehensive Panel is designed to provide a detailed analysis of genetic mutations that are crucial in the context of colon cancer and associated polyposis syndromes. Here’s what the panel typically includes:
1. Gene Panel Components
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Colon Cancer-Associated Genes:
- APC (Adenomatous Polyposis Coli): Mutations in this gene are linked to Familial Adenomatous Polyposis (FAP), a condition characterized by the development of hundreds to thousands of polyps in the colon, which significantly increases the risk of colorectal cancer.
- MLH1, MSH2, MSH6, PMS2: These genes are associated with Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC), a genetic disorder that significantly increases the risk of developing colorectal cancer and other cancers at a young age.
- BRCA1, BRCA2: Although primarily known for their association with breast and ovarian cancers, mutations in these genes can also influence colorectal cancer risk.
- KRAS: Mutations in the KRAS gene are common in colorectal cancer and can affect the treatment response and prognosis of the disease.
- NRAS: Similar to KRAS, mutations in NRAS can impact treatment strategies for colorectal cancer.
- BRAF: Often mutated in colorectal cancer, BRAF mutations can be used to predict prognosis and response to treatment.
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Polyposis Syndrome-Associated Genes:
- APC: Mutations in this gene are also linked to FAP, causing excessive polyp formation in the colon.
- MUTYH: Associated with MUTYH-Associated Polyposis (MAP), this condition results in multiple polyps and an increased risk of colorectal cancer.
2. Types of Tests Included
- DNA Sequencing: This method detects point mutations and small genetic alterations in relevant genes, providing insights into the genetic basis of cancer susceptibility.
- Gene Panel Analysis: Comprehensive testing that analyzes multiple genes associated with colon cancer and polyposis syndromes, allowing for a thorough assessment of genetic risk.
- Copy Number Variation Analysis: Identifies larger-scale genetic changes such as deletions or duplications that may contribute to cancer risk.
- Methylation Analysis: Assesses epigenetic changes that can impact gene function and contribute to cancer development.
Clinical Utility
The MapmyGenome Comprehensive Panel for Colon Cancer with Polyps offers significant clinical utility in the management and prevention of colon cancer:
- Identify Driver Mutations: Detecting mutations in key genes that drive the development and progression of colon cancer can help in understanding the underlying genetic factors contributing to the disease.
- Drug Profiling for Chemotherapy & Targeted Drugs: The panel helps identify mutations that can influence the effectiveness of specific treatments, guiding personalized therapeutic strategies.
- Predictive Genomic Biomarker Identification: Provides insights into genetic biomarkers that can guide the therapeutic process and predict responses to various treatments.
- Comprehensive Coverage: The panel’s extensive analysis offers wide coverage of relevant genes, detecting both known and novel variants associated with colon cancer and polyposis syndromes.
- Economic Solution: The multigene approach reduces the time required for diagnosis and provides a cost-effective solution compared to sequential single-gene testing.
When to Consider Testing
Genetic testing for colon cancer with polyps is recommended under the following circumstances:
- Family History: If there is a known family history of colon cancer, especially with early onset, or conditions such as FAP or Lynch Syndrome.
- Personal History: Individuals who have been diagnosed with colorectal cancer or polyposis syndromes, particularly if they have multiple polyps or a diagnosis at a young age.
- Polyps: For individuals diagnosed with polyps, particularly if they have multiple or unusual types of polyps, genetic testing can help determine the risk of cancer development.
- Family Planning: Couples with a family history of colon cancer or polyposis syndromes may consider testing to assess their risk and guide preventive measures.
MapmyGenome Offerings
MapmyGenome’s comprehensive panel for colon cancer with polyps includes:
- In-depth Genetic Testing: Analysis of approximately 10 key genes associated with colon cancer and polyposis syndromes.
- Screening Based on NCCN Guidelines: Adheres to the National Comprehensive Cancer Network (NCCN) guidelines to ensure comprehensive and clinically relevant testing.
- Genetic Counseling: Expert guidance through the report to discuss findings, potential risks, and available management and treatment options.
- Reporting: Detailed reporting of Pathogenic and Likely Pathogenic Variants following ACMG guidelines.
- Advanced Bioinformatics: Utilizes a state-of-the-art bioinformatics pipeline for accurate and reliable analysis conducted by an experienced team.