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Transforming Colorectal Cancer Care: The Critical Role of Biomarker Testing in Early Detection and Disease Management

Sponsored Content by Pfizer, Inc.

Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide and the second leading cause of cancer-related deaths.1,2 In the United States alone, projections estimate that more than 154,000 individuals will be diagnosed in 2025.3 Given the poor prognosis for some patients, particularly those diagnosed at later stages and with metastatic CRC, there is a pressing need for diagnostic approaches, including biomarker testing, that can provide more precise and timely information about the cancer.4

The Rise of Young Onset CRC

While CRC has traditionally been associated with older adults, recent trends indicate a worrying rise in diagnoses among younger populations. In the next decade, CRC is expected to become the second leading cancer in individuals aged 20 to 49.5 This shift presents a significant challenge, as these younger patients may face unique obstacles in early detection and diagnosis.5

“In my practice, I’m seeing firsthand the rising incidence of colorectal cancer among younger adults,” said Christopher Lieu, M.D., Associate Director for Clinical Research and Co-Director, Gastrointestinal Medical Oncology, University of Colorado Cancer Center. “This is an issue of urgent importance, because many younger patients may go undetected until the disease has advanced, and patients then have a worse prognosis.”

For 20% of those diagnosed with CRC, the disease has already metastasized by the time of diagnosis, complicating treatment efforts and reducing the likelihood of successful outcomes.6 Furthermore, up to 50% of patients with localized CRC eventually develop metastases, underscoring the aggressive nature of the disease.6 These statistics highlight the importance of raising awareness about CRC in younger adults and the urgent need to focus on early detection.

Improving Prognosis with Screening Guidelines

Survival rates for patients with CRC are heavily influenced by the stage of the tumor at diagnosis and the mutation status of the cancer. Early detection is crucial, as the 5-year survival rate for patients with localized, early-stage CRC is over 90%.7 In contrast, this rate plummets to 15% for those diagnosed with metastatic CRC, where the cancer has spread to other parts of the body.7

To enhance early detection, CRC screening is recommended to begin at age 45 for adults at average risk.8,9 However, individuals with specific risk factors, such as a family history of CRC or certain medical conditions, may need to start screening earlier and undergo it more often.8,9 By identifying and monitoring these high-risk groups, healthcare providers can catch the disease at an earlier, more treatable stage, thereby potentially improving outcomes for patients.8,9

There are several ways people can get tested for CRC. Screening can be done either with a sensitive test that looks for signs of cancer in a person’s stool (a stool-based test), or with an exam that looks at the colon and rectum (a visual exam).8 Depending on the type of test, these exams may be repeated more or less frequently; for example, fecal occult blood tests are recommended once a year, while colonoscopies are recommended every 10 years.8

Unlocking Insights Through Biomarker Testing

The integration of biomarker testing in treatment planning plays a crucial role in guiding care teams and patients in determining the next steps and potentially improving prognosis.4 Biomarkers are specific proteins, genes, or other molecular markers that provide valuable information about the cancer, such as causes that determined tumor onset, and potential progression and invasiveness.4,10

“Embracing biomarker testing soon after diagnosis of colorectal cancer is critical,” said Dr. Lieu. “When we have the opportunity to understand what is driving a patient’s cancer, we can better determine the right treatment plan from the beginning of a treatment journey.”

Testing for biomarkers can be performed by taking a sample of the tumor tissue or a blood sample.10 CRC can present with various biomarkers, each offering different insights into the disease. Some of the key biomarkers include KRAS/NRAS mutations, BRAF mutations, HER2 amplifications, and MSI/MMR status.10 Identifying these biomarkers helps in understanding the genetic and molecular landscape of the cancer, allowing for additional treatment strategies.

Among the most common biomarkers, BRAF mutations are a significant concern in metastatic CRC, occurring in approximately 8-12% of patients.11 These mutations are associated with a poor prognosis.11,12 The BRAF gene plays a key role in normal cell functions, including growth, differentiation, and apoptosis (cell death).4,13 Under typical conditions, the BRAF gene helps regulate these processes to maintain healthy cell behavior. However, when a mutation occurs, the mutated BRAF gene continues to activate signaling pathways that promote cell proliferation indefinitely, leading to uncontrolled cell growth and the development of cancer.4,13 The presence of BRAF mutations has been shown to be a robust prognostic marker for survival in both early-stage and advanced metastatic CRC.4

“Knowing a patient’s specific biomarker status, whether it’s BRAF, KRAS or MSI-High, allows us to identify a disease management plan that considers specific mutations in the tumor biology,” said Dr. Lieu.

Along with screening for early detection, biomarker testing can improve prognoses for some patients and provide a clearer understanding of their condition and the potential course of their disease.4,10

To learn more about BRAF mutations in metastatic CRC, visit ActFastBraf.com.

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References

  1. American Cancer Society. Global Cancer Facts & Figures 5th Edition. Available at: https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/global-cancer-facts-and-figures/global-cancer-facts-and-figures-2024.pdf. Last accessed: February 2025.
  2. American Cancer Society. Key Statistics for Colorectal Cancer. Available at: https://www.cancer.org/cancer/types/colon-rectal-cancer/about/key-statistics.html. Last accessed: February 2025.
  3. American Cancer Society. Cancer Facts & Figures 2025. Available at: https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2025/2025-cancer-facts-and-figures-acs.pdf. Last accessed: February 2025.
  4. Zhang Y, Wang Y, Zhang B, Li P, Zhao Y. Methods and biomarkers for early detection, prediction, and diagnosis of colorectal cancer. Biomed Pharmacother. 2023;163:114786. doi:10.1016/j.biopha.2023.114786
  5. Rahib L, Wehner MR, Matrisian LM, Nead KT. Estimated Projection of US Cancer Incidence and Death to 2040. JAMA Netw Open. 2021;4(4):e214708. doi:10.1001/jamanetworkopen.2021.4708
  6. Ciardiello F, Ciardiello D, Martini G, et al. Clinical management of metastatic colorectal cancer in the era of precision medicine. CA Cancer J Clin. 2022;72:372–401.
  7. Surveillance, Epidemiology, and End Results (SEER) Program. National Cancer Institute. Cancer Stat facts: Colorectal cancer. Available at: https://seer.cancer.gov/statfacts/html/colorect.html. Last accessed February 2025.
  8. American Cancer Society. Guideline for Colorectal Cancer Screening. Available at: https://www.cancer.org/cancer/types/colon-rectal-cancer/detection-diagnosis-staging/acs-recommendations.html. Last accessed: February 2025.
  9. Centers for Disease Control and Prevention. Colorectal Cancer. Screening for Colorectal Cancer. Available at: https://www.cdc.gov/colorectal-cancer/screening/index.html Last accessed: February 2025.
  10. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Colon Cancer. V.1.2025© National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed February 2025. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
  11. Tabernero J, Ros J, Élez E. The Evolving Treatment Landscape in BRAF-V600E-Mutated Metastatic Colorectal Cancer. Am Soc Clin Oncol Educ Book. 2022;42:1-10. doi:10.1200/EDBK_349561
  12. Safaee Ardekani G, Jafarnejad SM, Tan L, et al. The prognostic value of BRAF mutation in colorectal cancer and melanoma: a systematic review and meta-analysis. PloS ONE. 2012;7(10):e47054.
  13. Djanani A, Eller S, Öfner D, et al. The role of BRAF in metastatic colorectal carcinoma-past, present, and future. Int J Mol Sci. 2020;21(23):9001. doi:10.3390/ijms21239001
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