Biomarkers
Abstract
Biomarkers can be used as an indicator of cancer risk, cancer occurrence, or patient outcome;
they are molecular cancer biomarkers. These could include transcriptional alterations, epigenetic
signatures, germline or somatic genetic variants, and proteomic signatures. These
biomoleculebased indicators, which include proteins and nucleic acids, are based on samples
taken from tumor biopsies or, in a more straightforward and less invasive method, from blood
(serum/plasma), saliva, buccal swabs, stool, urine, etc. Over the past few decades, detection
technologies have made tremendous progress. Examples of these advancements include
nextgeneration sequencing, nanotechnology, and the study of exosomes and circulating tumor
DNA/RNA. There are many clinical uses for biomarkers. They can be employed as instruments
for evaluating cancer risk, screening and early cancer detection, precise diagnosis, prognosis for
the patient, forecasting therapy response, and cancer surveillance and response monitoring. As a
result, they may facilitate better decision-making in clinical settings.
Keywords: Biomarkers, Diagnosis, Cancers, DNA, Prognosis, RNA, Testing
Introduction
Cancer cells may produce biomarkers independently, or other cells within the body may
produce them in reaction to the cancer. A pathologist is a medical professional who uses a
microscope to examine cells and tissues to diagnose cancer and determine its exact type.
Biomarker testing can start as soon as cancer is diagnosed.1 Doctors remove a sample of tumor
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Biomarkers
tissue or bodily fluid (such as blood, pleural fluid around the lungs, or fluid around the
abdominal organs) to check for cancer biomarkers. 1
Specific biomarkers cause aberrant cell growth. One such protein that aids in regulating
cell growth is the HER2 protein. Cells can proliferate and create a malignant tumor that may
spread to other body areas if HER2 is "overexpressed." 2 HER2 overexpression can forecast a
patient's reaction to specific cancer drugs that inhibit HER2. Additional biomarkers bolster the
efficacy of a particular therapeutic strategy. 2A different kind of biomarker interferes with a
treatment's ability to work. One such is the protein known as ERCC1.2 Chemotherapy is likely to
be a failure if ERCC1 levels are high. 2 Physicians can tailor patients' treatment plans according
to their needs using the data gathered from biomarker testing.
Examples of Cancer Biomarkers
Cancer biomarkers come in a wide variety of specific forms. Below is a list of some of
the most prevalent biomarkers. Mutations in the BRCA1/2 breast cancer genes serve as a
susceptibility/risk biomarker to identify individuals who are predisposed to developing breast
cancer. 3 Biomarkers help professionals with patients diagnosed with breast cancer to determine
the chance of developing a second breast cancer, BRCA1/2 gene mutations are used as
prognostic biomarkers.3
Biomarkers for prognosis and prediction: estrogen and progesterone receptors (ER and
PR). Human papillomavirus (HPV) infection with specific subtypes is used as a
susceptibility/risk biomarker for cervical cancer to identify women who are at risk for the
disease.4 Medical professionals can use D-L1 expression as a predictive biomarker to determine
which women's cancers are more likely to respond to immunotherapy.4 Methylated genes,
including MLH1, VIM, and SEPT9, are diagnostic biomarkers for colorectal cancer.
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Biomarkers
4Microsatellite instability testing and the expression level of the mismatch repair protein serve as
susceptibility/risk biomarkers for a propensity to colorectal and other cancers.
Gene expression profiling is a diagnostic biomarker for diffuse large B-cell lymphoma
(DLBCL), which allows patients to be divided into subgroups according to the origin of the
cancer cells.4 Standardized uptake value is used as a response biomarker when assessing patients
with DLBCL receiving chemotherapy and targeted therapies.4
Conclusion
Cancer cells undergo various changes, and these modifications have been utilized for
decades as cancer biomarkers, mostly in tumor tissue testing. 5Thanks to recent developments in
cancer biomarker research, new DNA, RNA, and protein-based cancer biomarkers are now
detectable in easily accessible bodily fluids.5 Novel candidate biomarkers for cancer have also
been found through high-throughput transcriptomic and proteomic studies; however, very few of
these have been applied in clinical settings. 5As a response, technologies for susceptible
detection are being developed.5 For instance, high surface-to-volume ratio nanoparticles allow
different molecules to adhere to their surface, making it possible to extract cancer biomarkers
from biological fluids.
PLACEHOLDER.1
References
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3. Mendelsohn, John, et al. The Molecular Basis of Cancer. 4th ed. Philadelphia, PA: W.B.
Saunders Co.; 2015. ISBN: 9781455740666.
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4. Sarhadi VK, Armengol G. Molecular Biomarkers in Cancer. Biomolecules. 2022 Jul
23;12(8):1021. doi: 10.3390/biom12081021. PMID: 35892331; PMCID: PMC9331210.
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