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Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
- Source :
-
Cancer genomics & proteomics [Cancer Genomics Proteomics] 2022 Jan-Feb; Vol. 19 (1), pp. 60-78. - Publication Year :
- 2022
-
Abstract
- Background/aim: The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members.<br />Materials and Methods: We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making.<br />Results: A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of individuals were double heterozygotes.<br />Conclusion: Germline findings in 92% of individuals are linked to evidence-based treatment information and risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.<br /> (Copyright © 2022, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)
- Subjects :
- Adult
Aged
Aged, 80 and over
Antineoplastic Agents pharmacology
Antineoplastic Agents therapeutic use
Biomarkers, Tumor antagonists & inhibitors
Biomarkers, Tumor genetics
Breast Neoplasms drug therapy
Breast Neoplasms genetics
Breast Neoplasms prevention & control
Breast Neoplasms, Male drug therapy
Breast Neoplasms, Male genetics
Breast Neoplasms, Male prevention & control
Clinical Decision-Making methods
Family
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Middle Aged
Molecular Targeted Therapy methods
Precision Medicine methods
Precision Medicine standards
Retrospective Studies
Risk Assessment methods
Risk Assessment standards
Young Adult
Breast Neoplasms epidemiology
Breast Neoplasms, Male epidemiology
DNA Mutational Analysis standards
Genetic Testing standards
Germ-Line Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1790-6245
- Volume :
- 19
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Cancer genomics & proteomics
- Publication Type :
- Academic Journal
- Accession number :
- 34949660
- Full Text :
- https://doi.org/10.21873/cgp.20304