Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes

Rostislav K. Skitchenko
ORCID logo ,
Yury A. Barbitoff
* ,
Mikhail A. Fedyakov
,
Anna Yu. Anisenkova
,
Sergei V. Mosenko
,
Svetlana V. Apalko
,
Andrey S. Glotov
ORCID logo ,
Oleg S. Glotov
* ORCID logo ,
Sergey G. Shcherbak
*
Version 1 : Received: 4 December 2023 / Approved: 6 December 2023 / Online: 6 December 2023 (08:52:54 CET)

How to cite: Skitchenko, R.K.; Barbitoff, Y.A.; Fedyakov, M.A.; Anisenkova, A.Y.; Mosenko, S.V.; Apalko, S.V.; Glotov, A.S.; Glotov, O.S.; Shcherbak, S.G. The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes. Preprints 2023, 2023120328. https://doi.org/10.20944/preprints202312.0328.v1 Skitchenko, R.K.; Barbitoff, Y.A.; Fedyakov, M.A.; Anisenkova, A.Y.; Mosenko, S.V.; Apalko, S.V.; Glotov, A.S.; Glotov, O.S.; Shcherbak, S.G. The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes. Preprints 2023, 2023120328. https://doi.org/10.20944/preprints202312.0328.v1

Abstract

The COVID-19 pandemic has created unique challenges for people with comorbidities, including hereditary diseases and cancer cancers. Several studies have reported a link between the presence of disease-causing genetic variants and the outcome of the COVID-19 infection. In this study, we used clinical exome sequencing in a cohort of 840 COVID-19 patients to identify pathogenic and likely pathogenic genetic variants present in these individuals. While we did not identify any statistically significant differences in the overall burden of pathogenic variants between different patient groups, we discovered three known pathogenic alleles associated with hereditary cancer syndromes, including a frameshift mutation in MSH6 and two missense mutations in TP53. The patients carrying these mutations presented with different severity of the disease and outcome. Thus, a 58-year old male subject with an MSH6 mutation developed a severe form of COVID-19 that resulted in death, even though the patient had few pre-existing conditions and no evidence of malignant tumors. On the other hand, two female subjects carrying pathogenic TP53 variants successfully recovered from the disease despite suffering from various forms of cancer. Our results highlight the importance of personalized approaches to the diagnosis, management and treatment of COVID-19 in patients with specific genetic mutations. Further studies are needed to elucidate the complex relationship between these mutations and COVID-19.

Keywords

COVID-19; SARS-CoV-2; oncology; genetic variants; NGS; severity; genetic associations; exome

Subject

Biology and Life Sciences, Other

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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