Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome
Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, E...
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| Autor*in: |
Ashour M [verfasserIn] Ezzat Shafik H [verfasserIn] |
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E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Übergeordnetes Werk: |
In: Cancer Management and Research - Dove Medical Press, 2009, (2019), Seite 6275-6284 |
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| Übergeordnetes Werk: |
year:2019 ; pages:6275-6284 |
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DOAJ037784285 |
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| 520 | |a Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive | ||
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(DE-627)DOAJ037784285 (DE-599)DOAJ021cfa25ea8b45d7800185b478f11b56 DE-627 ger DE-627 rakwb eng RC254-282 Ashour M verfasserin aut Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive BRCA mutation ovarian cancer Neoplasms. Tumors. Oncology. Including cancer and carcinogens Ezzat Shafik H verfasserin aut In Cancer Management and Research Dove Medical Press, 2009 (2019), Seite 6275-6284 (DE-627)606030840 (DE-600)2508013-1 11791322 nnns year:2019 pages:6275-6284 https://doaj.org/article/021cfa25ea8b45d7800185b478f11b56 kostenfrei https://www.dovepress.com/frequency-of-germline-mutations-in-brca1-and-brca2-in-ovarian-cancer-p-peer-reviewed-article-CMAR kostenfrei https://doaj.org/toc/1179-1322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2019 6275-6284 |
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(DE-627)DOAJ037784285 (DE-599)DOAJ021cfa25ea8b45d7800185b478f11b56 DE-627 ger DE-627 rakwb eng RC254-282 Ashour M verfasserin aut Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive BRCA mutation ovarian cancer Neoplasms. Tumors. Oncology. Including cancer and carcinogens Ezzat Shafik H verfasserin aut In Cancer Management and Research Dove Medical Press, 2009 (2019), Seite 6275-6284 (DE-627)606030840 (DE-600)2508013-1 11791322 nnns year:2019 pages:6275-6284 https://doaj.org/article/021cfa25ea8b45d7800185b478f11b56 kostenfrei https://www.dovepress.com/frequency-of-germline-mutations-in-brca1-and-brca2-in-ovarian-cancer-p-peer-reviewed-article-CMAR kostenfrei https://doaj.org/toc/1179-1322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2019 6275-6284 |
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(DE-627)DOAJ037784285 (DE-599)DOAJ021cfa25ea8b45d7800185b478f11b56 DE-627 ger DE-627 rakwb eng RC254-282 Ashour M verfasserin aut Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive BRCA mutation ovarian cancer Neoplasms. Tumors. Oncology. Including cancer and carcinogens Ezzat Shafik H verfasserin aut In Cancer Management and Research Dove Medical Press, 2009 (2019), Seite 6275-6284 (DE-627)606030840 (DE-600)2508013-1 11791322 nnns year:2019 pages:6275-6284 https://doaj.org/article/021cfa25ea8b45d7800185b478f11b56 kostenfrei https://www.dovepress.com/frequency-of-germline-mutations-in-brca1-and-brca2-in-ovarian-cancer-p-peer-reviewed-article-CMAR kostenfrei https://doaj.org/toc/1179-1322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2019 6275-6284 |
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(DE-627)DOAJ037784285 (DE-599)DOAJ021cfa25ea8b45d7800185b478f11b56 DE-627 ger DE-627 rakwb eng RC254-282 Ashour M verfasserin aut Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive BRCA mutation ovarian cancer Neoplasms. Tumors. Oncology. Including cancer and carcinogens Ezzat Shafik H verfasserin aut In Cancer Management and Research Dove Medical Press, 2009 (2019), Seite 6275-6284 (DE-627)606030840 (DE-600)2508013-1 11791322 nnns year:2019 pages:6275-6284 https://doaj.org/article/021cfa25ea8b45d7800185b478f11b56 kostenfrei https://www.dovepress.com/frequency-of-germline-mutations-in-brca1-and-brca2-in-ovarian-cancer-p-peer-reviewed-article-CMAR kostenfrei https://doaj.org/toc/1179-1322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2019 6275-6284 |
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(DE-627)DOAJ037784285 (DE-599)DOAJ021cfa25ea8b45d7800185b478f11b56 DE-627 ger DE-627 rakwb eng RC254-282 Ashour M verfasserin aut Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive BRCA mutation ovarian cancer Neoplasms. Tumors. Oncology. Including cancer and carcinogens Ezzat Shafik H verfasserin aut In Cancer Management and Research Dove Medical Press, 2009 (2019), Seite 6275-6284 (DE-627)606030840 (DE-600)2508013-1 11791322 nnns year:2019 pages:6275-6284 https://doaj.org/article/021cfa25ea8b45d7800185b478f11b56 kostenfrei https://www.dovepress.com/frequency-of-germline-mutations-in-brca1-and-brca2-in-ovarian-cancer-p-peer-reviewed-article-CMAR kostenfrei https://doaj.org/toc/1179-1322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2019 6275-6284 |
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Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome |
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Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive |
| abstractGer |
Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive |
| abstract_unstemmed |
Mohamed Ashour1,2, Hanan Ezzat Shafik31Clinical Oncology, Faculty of Medicine, Al Azhar University, Kuwait, Egypt; 2Department of Medical Oncology, Kuwait Cancer Control Centre, Farwanyia, Ragai, Kuwait, Egypt; 3Medical Oncology Department, National Cancer Institute, Cairo University, Giza, Cairo, EgyptAim of work: Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes.Patients and methods: In total, 104 patients with epithelial ovarian cancer were prospectively recruited to the study. Analysis consisted of the sequencing of all the translated exons and immediately adjacent intronic regions of the BRCA1/2 genes. Responses to multiple lines of chemotherapy were assessed, as well as the effect of BRCA gene mutations on progression-free survival (PFS) and overall survival (OS).Results: Pathogenic BRCA1/2 mutations were found in 21.15% of the patients. BRCA1 mutations represented 68.2% of the total mutations. Two novel BRCA1 mutations were identified. Age at diagnosis was a strong predictor of the presence of a pathogenic BRCA1/2 mutation. Patients with a family history of cancer had a higher incidence of BRCA mutations (P=0.005). As high as 72% of the patients with BRCA mutations were diagnosed at advanced stage. High-grade serous tumors have a higher incidence of pathogenic mutation (P=0.07). Response to neoadjuvant chemotherapy was high (93.9%). All patients underwent surgery which was optimal in 73.1% of the patients. As high as 85.6% of the patients received adjuvant chemotherapy. Relapse rate was 45.2%. Visceral metastasis was more often in BRCA carriers (P=0.01). Patients carrying pathogenic BRCA1/2 mutations had a longer median PFS of 42.43 months (95% CI 32.04–52.83) compared to 22.24 months (95% CI 14.83–29.58) for non-carriers (P=0.08). OS was 64.32 months (95% CI 38.09–90.06) for BRCA mutation patients versus 56.63 months (95% CI 50.05–63.21) (P=0.04) for non-carriers. In multivariate analysis, early stage at diagnosis and optimal debulking were the only independent predictors of better PFS and OS.Conclusion: We documented a number of pathogenic BRCA1 and 2 mutations in this patients cohort; two novel mutations were detected. BRCA status seemed to affect survival in ovarian cancer patients.Keywords: hereditary, ovarian, cancer, mutation, platinum, sensitive |
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Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome |
| url |
https://doaj.org/article/021cfa25ea8b45d7800185b478f11b56 https://www.dovepress.com/frequency-of-germline-mutations-in-brca1-and-brca2-in-ovarian-cancer-p-peer-reviewed-article-CMAR https://doaj.org/toc/1179-1322 |
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2024-07-03T14:06:19.426Z |
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