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Precision Prevention: The Current State and Future of Genomically Guided Cancer Prevention
Abstract
The identification of cancer-predisposing germline variants has potentially substantial clinical impact for patients and their families. Although management guidelines have been proposed for some genes, guidelines for other genes are lacking. This review focuses on the current surveillance and management guidelines for the most common hereditary cancer syndromes and discusses some of the most pivotal studies supporting the available guidelines. We also highlight the gaps in the identification of germline carriers, the cascade testing of at-risk relatives, and the challenges impeding the proper follow-up and optimal management of pathogenic germline carriers. The anticipated surge in the number of identified germline carriers, deficient management guidelines, poor cascade testing uptake, and long-term follow-up necessitate the development of multidisciplinary clinics as an obligatory step toward the improvement of cancer prevention.
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Uptake and adherence to risk-reducing surgery recommendations is relatively low.
“Uptake and adherence to RRS recommendations is relatively low [46, 47].”
From Screening, Risk Reduction Strategies, and Clinical Management of Unaffected Carriers of BRCA1 or BRCA2 Pathogenic Variants (2026) · cites this paper as [47]
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Germline Mutations in Predisposition Genes in Pediatric Cancer
Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1508054 · Cited by 1,345
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Meijers-Heijboer, H., van Geel, B., van Putten, W. L. J., Henzen-Logmans, S. C., Seynaeve, C., Menke-Pluymers, M. B. E., Bartels, C. C. M., Verhoog, L. C., van den Ouweland, A. M. W., Niermeijer, M. F., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200107193450301 · Cited by 973
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Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers
Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L., Frost, M. H., Grant, C. S., Donohue, J. H., Woods, J. E., et al. (2001) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/93.21.1633 · Cited by 743
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Cited by
Sorted by citations
Abdel-Razeq, H., & Mansour, R. (2026) · World Journal of Oncology · doi:10.14740/wjon2692
Metadata
- Authors
- Kassem, N., Stout, L. A., Hunter, C., Schneider, B., & Radovich, M.
- Affiliations
- Indiana University Health (US)
- Venue
- JCO Precision Oncology
- Published
- 2020-11
- Volume
- 4
- Issue
- 4
- Pages
- 96-108
- ISSN
- 2473-4284 (ISSN-L)
- OpenAlex
- W3007504345
- Cited by
- 5
- References
- 7
- Citations by year
- 2026: 1 · 2021: 3 · 2020: 1
- FWCI
- 0.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JCO Precision Oncology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- hereditary cancer, germline mutations, cancer susceptibility, cancer surveillance, management guidelines, cascade testing, multidisciplinary clinic, personalized prevention
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