Estimating the Number of Polygenic Diseases Among Six Mutually Exclusive Entities of Non-Tumors and Cancer

Authors

C I Edvard Smith
Jan A Burger
Rula Zain

Publication Date

11-7-2024

Journal

International Journal of Molecular Sciences

Abstract

In the era of precision medicine with increasing amounts of sequenced cancer and non-cancer genomes of different ancestries, we here enumerate the resulting polygenic disease entities. Based on the cell number status, we first identified six fundamental types of polygenic illnesses, five of which are non-cancerous. Like complex, non-tumor disorders, neoplasms normally carry alterations in multiple genes, including in 'Drivers' and 'Passengers'. However, tumors also lack certain genetic alterations/epigenetic changes, recently named 'Goners', which are toxic for the neoplasm and potentially constitute therapeutic targets. Drivers are considered essential for malignant transformation, whereas environmental influences vary considerably among both types of polygenic diseases. For each form, hyper-rare disorders, defined as affecting <1/10

Keywords

Humans, Neoplasms, Multifactorial Inheritance, Genetic Predisposition to Disease, Epigenesis, Genetic, Mutation, autoimmunity, leukemia, GWAS, SNP, BTK, COVID-19

DOI

10.3390/ijms252211968

PMID

39596040

PMCID

PMC11593959

PubMedCentral® Posted Date

11-7-2024

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes