Genetic and molecular criteria for the study of the most common hereditary cancers: A literature review

Abstract

Introduction: For centuries, cancer was interpreted as a divine punishment, and its treatment was based on rituals. However, the advancement of medicine led physicians to observe familial patterns, thus exploring potential genetic causes. Presently, genomics has unveiled the underlying complexity of cancer, offering new avenues for its prevention and treatment. This review focuses on hereditary cancers, proposing criteria for their study and genetic counseling, thereby providing a crucial guide for informed clinical decision-making. Objective:  This study aims to deepen the current understanding of the most prevalent hereditary cancers, with a specific focus on their genetic bases. Methods: In this review, a detailed analysis of the literature was conducted using Scopus, PubMed, Google Scholar, and other online sources, employing specific keywords supported by specialized thesauri. Thirty-eight references focused on hereditary cancers published between 2019 and 2024 were carefully selected. Development: Exploring the genetic bases of cancer involves addressing the cell cycle, genetic regulation, and crucial genes such as p53. Cancer predisposing genes are identified, and common hereditary syndromes, such as hereditary breast and ovarian cancer, hereditary non-polyposis colorectal cancer, and familial adenomatous polyposis, are described. Conclusions: Cancer, influenced by genetic factors, manifests in specific mutations such as BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, and APC, increasing the risks of breast, ovarian, colorectal cancer, and familial adenomatous polyposis. The application of study criteria based on family history and genetic testing facilitates the identification of individuals and families prone to these mutations.