Preprint Concept Paper Version 1 Preserved in Portico This version is not peer-reviewed

Immunogenomic Biomarkers for Early Cancer Detection in Lynch Syndrome

Version 1 : Received: 22 July 2022 / Approved: 26 July 2022 / Online: 26 July 2022 (10:58:51 CEST)

How to cite: Chambuso, R.; Mthembu, M.; Kaambo, E.; Robertson, B.; Ramesar, R. Immunogenomic Biomarkers for Early Cancer Detection in Lynch Syndrome. Preprints 2022, 2022070408 (doi: 10.20944/preprints202207.0408.v1). Chambuso, R.; Mthembu, M.; Kaambo, E.; Robertson, B.; Ramesar, R. Immunogenomic Biomarkers for Early Cancer Detection in Lynch Syndrome. Preprints 2022, 2022070408 (doi: 10.20944/preprints202207.0408.v1).

Abstract

Lynch syndrome (LS) is an inherited disorder in which affected individuals have a significantly higher-than-average risk of developing colorectal and non-colorectal cancers, often before the age of 50 years. In LS, mutations in DNA repair genes lead to a dysfunctional post-replication repair system. As a result, the unrepaired errors in coding regions of the genome produce novel proteins, called neoantigens. Neoantigens are recognised by the immune system as foreign and trigger an immune response. Due to the invasive nature of cancer screening tests, universal cancer screening guidelines unique for LS (including colonoscopy) are poorly adhered to by LS variant heterozygotes (LSVH). Currently, it is unclear whether immunogenomic components produced as a result of neoantigen formation can be used as novel biomarkers in LS. We hypothesize that: (i) LSVH produce measurable and dynamic immunogenomic components in blood, and (ii) these quantifiable immunogenomic components correlate with cancer onset and stage. Here, we discuss feasibility and propose the potential to: (a) identify personalised novel immunogenomic biomarkers, (b) reduce invasive cancer screening tests and thus increase non-invasive cancer surveillance, (c) improve compliance and adherence to recommended cancer screening guidelines in LSVH.

Keywords

Lynch syndrome variant heterozygotes; colorectal and non-colorectal cancers; frameshift muta-tions; neoantigens; immune responses; immunogenomic biomarkers

Subject

LIFE SCIENCES, Genetics

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