Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management
Approximately 5–10% of all breast cancer (BC) cases are caused by germline pathogenic variants (GPVs) in various cancer predisposition genes (CPGs). The most common contributors to hereditary BC are <i>BRCA1</i> and <i>BRCA2</i>, which are associated with hereditary breast an...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/13/7481 |
| _version_ | 1797443074633236480 |
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| author | Akiyo Yoshimura Issei Imoto Hiroji Iwata |
| author_facet | Akiyo Yoshimura Issei Imoto Hiroji Iwata |
| author_sort | Akiyo Yoshimura |
| collection | DOAJ |
| description | Approximately 5–10% of all breast cancer (BC) cases are caused by germline pathogenic variants (GPVs) in various cancer predisposition genes (CPGs). The most common contributors to hereditary BC are <i>BRCA1</i> and <i>BRCA2</i>, which are associated with hereditary breast and ovarian cancer (HBOC). <i>ATM</i>, <i>BARD1</i>, <i>CHEK2</i>, <i>PALB2</i>, <i>RAD51C</i>, and <i>RAD51D</i> have also been recognized as CPGs with a high to moderate risk of BC. Primary and secondary cancer prevention strategies have been established for HBOC patients; however, optimal preventive strategies for most hereditary BCs have not yet been established. Most BC-associated CPGs participate in DNA damage repair pathways and cell cycle checkpoint mechanisms, and function jointly in such cascades; therefore, a fundamental understanding of the disease drivers in such cascades can facilitate the accurate estimation of the genetic risk of developing BC and the selection of appropriate preventive and therapeutic strategies to manage hereditary BCs. Herein, we review the functions of key BC-associated CPGs and strategies for the clinical management in individuals harboring the GPVs of such genes. |
| first_indexed | 2024-03-09T12:50:53Z |
| format | Article |
| id | doaj.art-530cb6bfcff94b3eb9019be3e68a8765 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T12:50:53Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-530cb6bfcff94b3eb9019be3e68a87652023-11-30T22:05:34ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-07-012313748110.3390/ijms23137481Functions of Breast Cancer Predisposition Genes: Implications for Clinical ManagementAkiyo Yoshimura0Issei Imoto1Hiroji Iwata2Department of Breast Oncology, Aichi Cancer Center Hospital, 1-1 Kanokoden, Chikusa-ku, Nagoya 464-8681, JapanAichi Cancer Center Research Institute, 1-1 Kanokoden, Chikusa-ku, Nagoya 464-8681, JapanDepartment of Breast Oncology, Aichi Cancer Center Hospital, 1-1 Kanokoden, Chikusa-ku, Nagoya 464-8681, JapanApproximately 5–10% of all breast cancer (BC) cases are caused by germline pathogenic variants (GPVs) in various cancer predisposition genes (CPGs). The most common contributors to hereditary BC are <i>BRCA1</i> and <i>BRCA2</i>, which are associated with hereditary breast and ovarian cancer (HBOC). <i>ATM</i>, <i>BARD1</i>, <i>CHEK2</i>, <i>PALB2</i>, <i>RAD51C</i>, and <i>RAD51D</i> have also been recognized as CPGs with a high to moderate risk of BC. Primary and secondary cancer prevention strategies have been established for HBOC patients; however, optimal preventive strategies for most hereditary BCs have not yet been established. Most BC-associated CPGs participate in DNA damage repair pathways and cell cycle checkpoint mechanisms, and function jointly in such cascades; therefore, a fundamental understanding of the disease drivers in such cascades can facilitate the accurate estimation of the genetic risk of developing BC and the selection of appropriate preventive and therapeutic strategies to manage hereditary BCs. Herein, we review the functions of key BC-associated CPGs and strategies for the clinical management in individuals harboring the GPVs of such genes.https://www.mdpi.com/1422-0067/23/13/7481hereditary breast cancercancer predisposition genefunctionBRCAcancer prevention |
| spellingShingle | Akiyo Yoshimura Issei Imoto Hiroji Iwata Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management International Journal of Molecular Sciences hereditary breast cancer cancer predisposition gene function BRCA cancer prevention |
| title | Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management |
| title_full | Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management |
| title_fullStr | Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management |
| title_full_unstemmed | Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management |
| title_short | Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management |
| title_sort | functions of breast cancer predisposition genes implications for clinical management |
| topic | hereditary breast cancer cancer predisposition gene function BRCA cancer prevention |
| url | https://www.mdpi.com/1422-0067/23/13/7481 |
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