Prognostic Impact of BRCA1 and BRCA2 Mutations on Long-Term Survival Outcomes in Egyptian Female Breast Cancer Patients
| Autor: | Hany Abdel Aziz, Hala O. El-Mesallamy, Abdel-Rahman N. Zekri, Sherihan G. AbdelHamid |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty QH301-705.5 clinical outcome Biology medicine.disease_cause BRCA1/2 mutations Article General Biochemistry Genetics and Molecular Biology 03 medical and health sciences 0302 clinical medicine Breast cancer breast cancer Internal medicine Long term survival medicine Overall survival Biology (General) skin and connective tissue diseases Female breast cancer Mutation General Immunology and Microbiology Significant difference medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis Egypt prognosis General Agricultural and Biological Sciences Clinical record |
| Zdroj: | Biology, Vol 10, Iss 566, p 566 (2021) Biology Volume 10 Issue 7 |
| ISSN: | 2079-7737 |
| Popis: | Evidence on the prognostic relevance of BRCA1/2 mutations on breast cancer survival is still debatable. To address this ambiguity, we sought to elucidate the impact of BRCA1/2 mutation carriership on long-term clinical outcomes for the first time in Egyptian female breast cancer patients. This study comprised 103 Egyptian female breast cancer patients previously tested for BRCA1/2 mutations. Clinicopathological characteristics and long-term follow-up data were retrieved from clinical records until death or loss to follow-up. Overall survival (OS), recurrence-free survival (RFS), disease-free survival (DFS), and metastasis-free survival (MFS) were compared in BRCA1/2 mutation carriers and non-carriers. Pathogenic variants (Class 5 according to ACMG/AMP guidelines) were observed in 29 cases. The profile of the detected variants was previously reported. After median follow-up time of 6.9 years (range, 4.2–24.4 years), BRCA1/2 carriers exhibited significantly worse RFS compared to non-carriers (p = 0.01 HR = 3.00 (95%CI 1.35–6.68)). However, we couldn’t demonstrate statistically significant difference between carriers of pathogenic mutations and non-carriers regarding MFS (p = 0.24 HR = 1.38 (95%CI 0.8–2.4)), DFS (p = 0.11 HR = 1.23 (95%CI 0.74–2.06)), or OS (p = 0.36 HR = 1.23 (95%CI 0.58–2.61)). Though no significant impact was observed in OS, yet BRCA1/2 mutation carriers were at high risk of recurrence, highlighting the importance of adopting BRCA screening strategies and prophylactic measures. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|