Prognostic factors in hereditary breast cancer: A review
Hereditary breast cancer, primarily driven by BRCA1 and BRCA2 mutations, presents distinct challenges and prognostic factors compared to sporadic breast cancer. BRCA1-associated breast cancer is often triple-negative (TNBC), which has a more aggressive course and poorer prognosis. Despite this, BRC...
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Indonesian Society for Biochemistry and Molecular Biology
2024-08-01
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| Series: | Acta Biochimica Indonesiana |
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| Online Access: | https://pbbmi.org/newjurnal/index.php/actabioina/article/view/124 |
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| author | Ziske Maritska Sarmoko |
| author_facet | Ziske Maritska Sarmoko |
| author_sort | Ziske Maritska |
| collection | DOAJ |
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Hereditary breast cancer, primarily driven by BRCA1 and BRCA2 mutations, presents distinct challenges and prognostic factors compared to sporadic breast cancer. BRCA1-associated breast cancer is often triple-negative (TNBC), which has a more aggressive course and poorer prognosis. Despite this, BRCA mutation carriers exhibit higher sensitivity to platinum-based chemotherapy and PARP inhibitors, potentially improving outcomes. However, the risk of developing other malignancies, such as ovarian cancer and melanoma, remains elevated in BRCA mutation carriers. Studies show a significant variation in survival rates, with BRCA mutation carriers having lower overall survival compared to non-carriers. Loss of heterozygosity (LOH) in BRCA1/2 tumors is frequent but does not significantly alter overall survival rates. Identifying the presence of LOH can guide personalized treatment strategies, particularly the use of PARP inhibitors. The response to chemotherapy, especially platinum-based drugs, is influenced by genetic mutations such as TP53 and PTEN, which are common in TNBC. Surgical choices also impact prognosis; mastectomy may lower ipsilateral breast recurrence but does not affect overall survival. Pathologic complete response (pCR) following neoadjuvant chemotherapy is a critical prognostic marker, with higher rates observed in BRCA mutation carriers, particularly those with TNBC. These factors collectively influence the prognosis and guide treatment strategies for hereditary breast cancer.
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| format | Article |
| id | doaj-art-77a37d282bc54ccbb5fb0f6923062dec |
| institution | Kabale University |
| issn | 2654-6108 2654-3222 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Indonesian Society for Biochemistry and Molecular Biology |
| record_format | Article |
| series | Acta Biochimica Indonesiana |
| spelling | doaj-art-77a37d282bc54ccbb5fb0f6923062dec2025-02-08T03:04:49ZengIndonesian Society for Biochemistry and Molecular BiologyActa Biochimica Indonesiana2654-61082654-32222024-08-017110.32889/actabioina.124Prognostic factors in hereditary breast cancer: A reviewZiske Maritska0Sarmoko1Department of Medical Biology, Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia Department of Pharmacy, Faculty of Science, Institut Teknologi Sumatera, South Lampung, Indonesia Hereditary breast cancer, primarily driven by BRCA1 and BRCA2 mutations, presents distinct challenges and prognostic factors compared to sporadic breast cancer. BRCA1-associated breast cancer is often triple-negative (TNBC), which has a more aggressive course and poorer prognosis. Despite this, BRCA mutation carriers exhibit higher sensitivity to platinum-based chemotherapy and PARP inhibitors, potentially improving outcomes. However, the risk of developing other malignancies, such as ovarian cancer and melanoma, remains elevated in BRCA mutation carriers. Studies show a significant variation in survival rates, with BRCA mutation carriers having lower overall survival compared to non-carriers. Loss of heterozygosity (LOH) in BRCA1/2 tumors is frequent but does not significantly alter overall survival rates. Identifying the presence of LOH can guide personalized treatment strategies, particularly the use of PARP inhibitors. The response to chemotherapy, especially platinum-based drugs, is influenced by genetic mutations such as TP53 and PTEN, which are common in TNBC. Surgical choices also impact prognosis; mastectomy may lower ipsilateral breast recurrence but does not affect overall survival. Pathologic complete response (pCR) following neoadjuvant chemotherapy is a critical prognostic marker, with higher rates observed in BRCA mutation carriers, particularly those with TNBC. These factors collectively influence the prognosis and guide treatment strategies for hereditary breast cancer. https://pbbmi.org/newjurnal/index.php/actabioina/article/view/124hereditary breast cancerbreast cancerBRCA1/2 mutationsprognosistriple-negative breast cancerpathologic complete response |
| spellingShingle | Ziske Maritska Sarmoko Prognostic factors in hereditary breast cancer: A review Acta Biochimica Indonesiana hereditary breast cancer breast cancer BRCA1/2 mutations prognosis triple-negative breast cancer pathologic complete response |
| title | Prognostic factors in hereditary breast cancer: A review |
| title_full | Prognostic factors in hereditary breast cancer: A review |
| title_fullStr | Prognostic factors in hereditary breast cancer: A review |
| title_full_unstemmed | Prognostic factors in hereditary breast cancer: A review |
| title_short | Prognostic factors in hereditary breast cancer: A review |
| title_sort | prognostic factors in hereditary breast cancer a review |
| topic | hereditary breast cancer breast cancer BRCA1/2 mutations prognosis triple-negative breast cancer pathologic complete response |
| url | https://pbbmi.org/newjurnal/index.php/actabioina/article/view/124 |
| work_keys_str_mv | AT ziskemaritska prognosticfactorsinhereditarybreastcancerareview AT sarmoko prognosticfactorsinhereditarybreastcancerareview |