Faculty, Staff and Student Publications

Publication Date

6-1-2024

Journal

American Society of Clinical Oncology Educational Book

DOI

10.1200/EDBK_433576

PMID

38913968

Abstract

Germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes confer elevated risks of breast, ovarian, and other cancers. Lynch syndrome (LS) is associated with increased risks of multiple cancer types including colorectal and uterine cancers. Current cancer risk mitigation strategies have focused on pharmacologic risk reduction, enhanced surveillance, and preventive surgeries. While these approaches can be effective, they stand to be improved on because of either limited efficacy or undesirable impact on quality of life. The current review summarizes ongoing investigational efforts in cancer risk prevention strategies for patients with germline PVs in BRCA1, BRCA2, or LS-associated genes. These efforts span radiation, surgery, and pharmacology including vaccine strategies. Understanding the molecular events involved in the premalignant to malignant transformation in high-risk individuals may ultimately contribute significantly to novel prevention strategies.

Keywords

Humans, Colorectal Neoplasms, Hereditary Nonpolyposis, BRCA1 Protein, BRCA2 Protein, Genetic Predisposition to Disease, Female, Neoplastic Syndromes, Hereditary, Germ-Line Mutation

Published Open-Access

yes

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