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December 2023 | George M. Pikler, M.D., Ph.D., FACP

Blood Test Detects Cancer Epigenomics

Epigenetics refers to the study of heritable changes in gene expression without alterations in DNA sequences. Epigenetic and genetic alterations contribute to cancer initiation and progression. Epigenetic changes are reversible and include key processes of DNA methylation, chromatin modifications, nucleosome positioning, and alterations in noncoding RNA profiles. Disruptions in epigenetic processes can lead to altered gene function and cellular neoplastic transformation. Epigenetic modifications precede genetic changes and usually occur at an early stage in neoplastic development. Recent technological advances offer a better understanding of the underlying epigenetic alterations during carcinogenesis and provide insight into the discovery of putative epigenetic biomarkers for detection, prognosis, risk assessment, and disease monitoring. In this chapter we provide information on various epigenetic mechanisms and their role in carcinogenesis, in particular, epigenetic modifications causing genetic changes and the potential clinical impact of epigenetic research in the future.

A blood test could help to track the progress of cancer by analyzing its epigenomics — the molecular changes to its DNA that control which genes are switched on or off. In a proof-of-concept study, blood samples were taken from more than 400 people with 15 types of advanced cancer. Researchers analyzed the tumor DNA in one millimeter of plasma from each participant and identified 1,268 epigenomic profiles. They hope the liquid-biopsy platform will provide more detail than existing blood tests on which disease-causing genes are expressed as cancer progresses.

Methods Mol Biol. 2015: 1238:3-25
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Erica

Erica Cross, PA

PA

Erica is a board certified Physician Assistant. She obtained her Master’s degree in Physician Assistant studies from Our Lady of the Lake College in Baton Rouge, LA. She began practicing in 2011 and has worked clinically in Orthopedics and Dermatology. The majority of her career has been spent in a Dermatology practice where she assisted in Mohs surgery, treating various types of skin cancer. She also teaches in the medical simulation department at the University of South Alabama and enjoys every aspect of medical education.