Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer
Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and BRCA2...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-03-01
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| Series: | Journal of Personalized Medicine |
| Subjects: | |
| Online Access: | http://www.mdpi.com/2075-4426/9/1/15 |
| _version_ | 1797758886284886016 |
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| author | Ava Willoughby Paul R. Andreassen Amanda Ewart Toland |
| author_facet | Ava Willoughby Paul R. Andreassen Amanda Ewart Toland |
| author_sort | Ava Willoughby |
| collection | DOAJ |
| description | Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and BRCA2, for the purpose of identifying high-risk individuals who would benefit from earlier screening and more sensitive methods such as magnetic resonance imaging. We also consider risk-based screening in the general population, including whether every woman should be genetically tested for high-risk genes and the potential use of polygenic risk scores. In addition to enabling early detection, the results of genetic screens of breast cancer susceptibility genes can be utilized to guide decision-making about when to elect prophylactic surgeries that reduce cancer risk and the choice of therapeutic options. Variants of uncertain significance, especially missense variants, are being identified during panel testing for hereditary breast and ovarian cancer. A finding of a variant of uncertain significance does not provide a basis for increased cancer surveillance or prophylactic procedures. Given that variant classification is often challenging, we also consider the role of multifactorial statistical analyses by large consortia and functional tests for this purpose. |
| first_indexed | 2024-03-12T18:36:28Z |
| format | Article |
| id | doaj.art-00ddb81014c74acc8cf0ad7524d83126 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-12T18:36:28Z |
| publishDate | 2019-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-00ddb81014c74acc8cf0ad7524d831262023-08-02T07:56:53ZengMDPI AGJournal of Personalized Medicine2075-44262019-03-01911510.3390/jpm9010015jpm9010015Genetic Testing to Guide Risk-Stratified Screens for Breast CancerAva Willoughby0Paul R. Andreassen1Amanda Ewart Toland2Departments of Cancer Biology and Genetics and Internal Medicine, The Ohio State University, Columbus, OH 43210, USADivision of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USADepartments of Cancer Biology and Genetics and Internal Medicine, The Ohio State University, Columbus, OH 43210, USABreast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and BRCA2, for the purpose of identifying high-risk individuals who would benefit from earlier screening and more sensitive methods such as magnetic resonance imaging. We also consider risk-based screening in the general population, including whether every woman should be genetically tested for high-risk genes and the potential use of polygenic risk scores. In addition to enabling early detection, the results of genetic screens of breast cancer susceptibility genes can be utilized to guide decision-making about when to elect prophylactic surgeries that reduce cancer risk and the choice of therapeutic options. Variants of uncertain significance, especially missense variants, are being identified during panel testing for hereditary breast and ovarian cancer. A finding of a variant of uncertain significance does not provide a basis for increased cancer surveillance or prophylactic procedures. Given that variant classification is often challenging, we also consider the role of multifactorial statistical analyses by large consortia and functional tests for this purpose.http://www.mdpi.com/2075-4426/9/1/15Risk stratificationrisk modelspolygenic risk scorehereditary breast and ovarian cancerbreast cancer screeninggenetic riskgenetic testingBRCA1BRCA2 |
| spellingShingle | Ava Willoughby Paul R. Andreassen Amanda Ewart Toland Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer Journal of Personalized Medicine Risk stratification risk models polygenic risk score hereditary breast and ovarian cancer breast cancer screening genetic risk genetic testing BRCA1 BRCA2 |
| title | Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer |
| title_full | Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer |
| title_fullStr | Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer |
| title_full_unstemmed | Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer |
| title_short | Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer |
| title_sort | genetic testing to guide risk stratified screens for breast cancer |
| topic | Risk stratification risk models polygenic risk score hereditary breast and ovarian cancer breast cancer screening genetic risk genetic testing BRCA1 BRCA2 |
| url | http://www.mdpi.com/2075-4426/9/1/15 |
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