What Is the Role of Biomarkers in Cancer Risk Assessment?

Cancer is an enigmatic and complex condition driven by seemingly random cellular mutations. Through extensive research, scientists have learned that tumors develop when healthy cells undergo abnormal changes that allow them to escape the confines of their normal behavior and enter a phase of rapid cell division, sometimes eventually metastasizing. But what triggers those changes, and who is at risk for developing a malignancy?

Researchers continue to explore potential answers to those multi-faceted questions. The process is particularly challenging given that, in addition to being complex, cancer is also diverse. There are hundreds of different types of tumors, which develop in different tissues and behave in different ways. Although a fundamental commonality among all types of cancer is uncontrolled cell growth and proliferation, the fact remains that not all malignancies result from the same cellular mutations.

Through risk assessment and early diagnoses, the medical community has made significant strides in the fight against cancer, but there is still much more work to be done. With an enhanced understanding of the mechanisms of tumor development and growth, physicians will be better positioned to assess cancer risk and identify individuals who are more susceptible to developing a malignancy so they can take appropriate steps to help prevent it. A rich and valuable source of that crucial information can be found in cancer biomarkers.

Biomarkers Hold a Wealth of Information

Every type of cell—healthy or cancerous—has its own unique molecular signature and distinguishable features, including specific proteins, hormones, carbohydrates, genes, and gene aberrations, such as mutations and rearrangements. Collectively, those characteristics are known as biomarkers. Cancer biomarkers are biomolecules that are produced either by tumor cells or by other cells throughout the body in response to the tumor. By studying biomarkers, scientists can define cancer on a molecular level, then utilize that highly precise definition to develop refined screening and early detection tools to help physicians assess cancer risk. As such, the study of biomarkers can potentially lead to research breakthroughs that may ultimately prevent cancer or improve risk stratification, treatment options, and outcomes for patients.

Prostate-Specific Antigen (PSA) Is a Well-Known Biomarker for Prostate Cancer Risk

Through groundbreaking advances in molecular biology and genomic sequencing technologies, researchers have identified several somatic genetic and epigenetic biomarkers as possible predictors of cancer risk. One well-known example is prostate-specific antigen (PSA), a protein produced by the prostate gland and found in the blood. The PSA test is widely recognized as an effective prostate cancer screening tool for routine use in the general population and is approved by the U.S. Food and Drug Administration (FDA) for that purpose. In fact, following its introduction in the 1980s, the PSA test has become the gold standard for prostate cancer screening. Today, many physicians recommend the PSA test for almost all men, mainly because it is so effective for the early detection of prostate cancer, which is one of the most common malignancies affecting males. Furthermore, the PSA test often directly contributes to the success of prostate cancer treatment.

M2GEN Is Helping Scientists Unlock the Promise of Cancer Biomarkers

As researchers continue to work to identify and classify more cancer biomarkers, they face several significant hurdles. For instance, the discovery process requires not only a complex and multistep workflow but also volumes of well-organized, real-world data. Many scientists who conduct tissue-based cancer research report difficulties in obtaining a sufficient quantity of high-quality biospecimens. Indeed, low-quality biospecimens cause many researchers to question their findings and limit the scope of their work. Additionally, many scientists experience problems related to the quality of the available clinical annotations, another key factor in identifying reliable biomarkers and validating their clinical utility.

What’s more, in recent years, next-generation sequencing (NGS) has emerged as a powerful tool for biomarker testing, mainly because it allows researchers to rapidly and simultaneously examine multiple genomic abnormalities using a single sample. However, the current biomarker testing algorithms involve multiple modalities and generate massive amounts of data, the proper analysis of which necessitates laborious serial processes and time-consuming workflows.

M2GEN—an oncology-focused bioinformatics company—is paving the way for researchers to meet and overcome all of those challenges. We are proud to sponsor and operationalize the Oncology Research Information Exchange Network® (ORIEN®) Avatar Program, a first-in-kind cancer research initiative that harmonizes rich clinical and molecular data from cancer patients across our participating institutions. ORIEN brings together many leading cancer centers from across the United States to encourage collaboration in the study of more than 30 cancer types. ORIEN members enroll their consenting patients into Total Cancer Care®(TCC), a protocol approved by the Institutional Review Board (IRB) for sharing de-identified patient data. Through TCC, hundreds of thousands of patients voluntarily donate their biospecimens and companion clinical data over their lifetime, creating an expansive and robust research data warehouse, which M2GEN has specifically optimized for oncology research. Leveraging the results and knowledge gained from ORIEN, M2GEN also provides our research partners with end-to-end bioinformatics solutions and next-generation sequencing analysis pipelines in accordance with industry-leading standards.

By enabling hundreds of researchers to share, integrate, and analyze an extensive amount of highly nuanced data in a secure and scalable fashion, M2GEN is supporting the study of biomarkers and transforming the practice of cancer medicine.

Biomarkers Are Improving Cancer Risk Assessment, Screening & Detection

What is the best way to detect a tumor early? That is one of the most important questions we face today as cancer researchers. At M2GEN, we believe the answer may lie in the discovery and classification of susceptibility biomarkers, which can be used to create better screening tools for assessing cancer risk and detecting early-stage malignancies in asymptomatic individuals, as well as to develop more targeted cancer therapies. M2GEN is proud to help our research partners discover and classify novel biomarkers, and we are optimistic that we will one day overcome cancer. Working together, we are gaining ground on that goal every single day.

If you would like to join M2GEN in our mission to study, treat, and eventually cure cancer, contact us today.

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