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[PMID]:29182397
[Au] Autor:Lecler A; Dunant A; Delaloge S; Wehrer D; Moussa T; Caron O; Balleyguier C
[Ad] Endereço:1 Department of Radiology, Fondation Ophtalmologique Rothschild , Fondation Ophtalmologique Rothschild , Paris , France.
[Ti] Título:Breast tissue density change after oophorectomy in BRCA mutation carrier patients using visual and volumetric analysis.
[So] Source:Br J Radiol;91(1083):20170163, 2018 Feb.
[Is] ISSN:1748-880X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: BRCA1/2 mutations account for 30-50% of hereditary breast cancers and bilateral oophorectomy is associated with a reduced risk of breast cancer in these patients. Breast density is a well-established breast cancer risk factor and is also associated with increased risk in BRCA carriers. The aim of the study was to evaluate the impact of oophorectomy on mammographic breast density and to assess which method of breast density assessment is more sensitive to change over time. METHODS: Retrospective study of 50 BRCA1/2 patients who underwent bilateral oophorectomy and had at least a baseline and post-surgery mammogram. Mammographic breast density was determined by Volpara and consensus visual assessment by two radiologists. The primary endpoint was change in density between baseline and the first mammogram post-surgery. RESULTS: At baseline, there was a non-significant trend for decreased density with increasing age. Volumetric breast density (VBD) significantly decreased after oophorectomy from a median VBD of 12.5% at baseline to 10.2% post-surgery which was driven by a reduction in fibroglandular volume. There was a higher absolute decrease in VBD in patients aged between 40-50 (p < 0.01). Using Volpara Density Grades (analogous to BI-RADS 4th edition density categories), 84% of females displayed a decrease in density category over the study period compared to only 76% using the radiologists' visual classification (p < 0.001) Conclusion: Oophorectomy is associated with a decrease in breast density and younger patients exhibit a larger absolute decrease. Volpara is more sensitive to identify change over time compared to visual assessment. Advances in knowledge: Oophorectomy is associated with a significant decrease in VBD in patients with BRCA mutations and Volpara Density Grades were more sensitive to identify decreases in density compared to visually assessed BI-RADS categories. Decreases in breast density following oophorectomy surgery in BRCA patients may be one of the mechanisms contributing to the observed decreased breast cancer risk after surgery. However, further studies are needed to investigate the relationship between breast density, oophorectomy and breast cancer risk in BRCA patients.
[Mh] Termos MeSH primário: Densidade da Mama
Neoplasias da Mama/genética
Genes BRCA1
Genes BRCA2
Ovariectomia
[Mh] Termos MeSH secundário: Adulto
Algoritmos
Neoplasias da Mama/diagnóstico por imagem
Feminino
Seres Humanos
Interpretação de Imagem Assistida por Computador
Estudos Longitudinais
Mamografia
Meia-Idade
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171129
[St] Status:MEDLINE
[do] DOI:10.1259/bjr.20170163


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[PMID]:29310340
[Au] Autor:Musani V; Susac I; Ozretic P; Eljuga D; Levanat S
[Ad] Endereço:Rudjer Boskovic Institute.
[Ti] Título:The first case report of a large deletion of the BRCA1 gene in Croatia: A case report.
[So] Source:Medicine (Baltimore);96(48):e8667, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer. PATIENT CONCERNS: In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33. DIAGNOSIS: Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect. INTERVENTIONS: Patient was sent to BRCA1 genetic testing. Subsequently, her mother and sister were sent to check for the mutation found in the patient. OUTCOMES: BRCA1 exons 4-6 deletion was determined and sequencing confirmed the deletion as NG_005905.2:g.107648_117905del10257. Mother and sister were not affected, but since there were no available family members on the fathers' side, it was not possible to determine if this was a case of de novo mutation. Until now, only in three reports with the similar mutation the exact mutation borders were determined. The mutation in this case was not the same as previously reported and was more than twice in size. LESSONS: All large deletions should be described at the nucleotide level, so that in cases with missing family data it would be possible to deduce if the mutation is already known. If the mutation is already known, it is probably not a de novo event, since it is unlikely that the breakpoints would be exactly the same more than once.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Genes BRCA1
[Mh] Termos MeSH secundário: Adulto
Croácia
Feminino
Predisposição Genética para Doença
Testes Genéticos
Seres Humanos
Mutação
Reação em Cadeia da Polimerase
Deleção de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180115
[Lr] Data última revisão:
180115
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180110
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008667


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[PMID]:28465148
[Au] Autor:Minucci A; De Paolis E; Concolino P; De Bonis M; Rizza R; Canu G; Scaglione GL; Mignone F; Scambia G; Zuppi C; Capoluongo E
[Ad] Endereço:Laboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital "Agostino Gemelli" Foundation, Rome, Italy. Electronic address: angelo.minucci@virgilio.it.
[Ti] Título:Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.
[So] Source:Clin Chim Acta;470:83-92, 2017 Jul.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:AIM OF THE STUDY: Evaluation of copy number variation (CNV) in BRCA1/2 genes, due to large genomic rearrangements (LGRs), is a mandatory analysis in hereditary breast and ovarian cancers families, if no pathogenic variants are found by sequencing. LGRs cannot be detected by conventional methods and several alternative methods have been developed. Since these approaches are expensive and time consuming, identification of alternative screening methods for LGRs detection is needed in order to reduce and optimize the diagnostic procedure. The aim of this study was to investigate a Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) as molecular tool to detect recurrent BRCA1 LGRs. MATERIAL AND METHODS: C-PCR-HRMA was performed on exons 3, 14, 18, 19, 20 and 21 of the BRCA1 gene; exons 4, 6 and 7 of the ALB gene were used as reference fragments. RESULTS: This study showed that it is possible to identify recurrent BRCA1 LGRs, by melting peak height ratio between target (BRCA1) and reference (ALB) fragments. Furthermore, we underline that a peculiar amplicon-melting profile is associated to a specific BRCA1 LGR. All C-PCR-HRMA results were confirmed by Multiplex ligation-dependent probe amplification. CONCLUSIONS: C-PCR-HRMA has proved to be an innovative, efficient and fast method for BRCA1 LGRs detection. Given the sensitivity, specificity and ease of use, c-PCR-HRMA can be considered an attractive and powerful alternative to other methods for BRCA1 CNVs screening, improving molecular strategies for BRCA testing in the context of Massive Parallel Sequencing.
[Mh] Termos MeSH primário: Rearranjo Gênico
Genes BRCA1
Genoma Humano/genética
Laboratórios
Reação em Cadeia da Polimerase/métodos
[Mh] Termos MeSH secundário: Variações do Número de Cópias de DNA
Éxons/genética
Feminino
Seres Humanos
Desnaturação de Ácido Nucleico
Neoplasias Ovarianas/genética
Reação em Cadeia da Polimerase/normas
Padrões de Referência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE


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[PMID]:29183078
[Au] Autor:Sefton P
[Ti] Título:Testing for BRCA1/2 Mutations.
[So] Source:JAMA;318(20):2054, 2017 11 28.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Genes BRCA1
Genes BRCA2
Testes Genéticos
Mutação
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Feminino
Predisposição Genética para Doença
Seres Humanos
Masculino
Fatores de Risco
[Pt] Tipo de publicação:PATIENT EDUCATION HANDOUT
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171213
[Lr] Data última revisão:
171213
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171129
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.17280


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[PMID]:28454658
[Au] Autor:Peters ML; Garber JE; Tung N
[Ad] Endereço:Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, MA, United States. Electronic address: mbpeters@bidmc.harvard.edu.
[Ti] Título:Managing hereditary breast cancer risk in women with and without ovarian cancer.
[So] Source:Gynecol Oncol;146(1):205-214, 2017 07.
[Is] ISSN:1095-6859
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Current guidelines recommend that all women with ovarian cancer undergo germline genetic testing for BRCA1/2. Increasingly, genetic testing is being performed via panels that include other genes that confer a high or moderate risk of breast cancer. In addition, many women with a family history of breast or ovarian cancer are not found to have a mutation, but may have increased risk of breast cancer for which surveillance and risk reduction strategies are indicated. This review discusses how to assess and manage an increased risk of breast cancer through surveillance, preventive medications, and risk-reducing surgery. Assessing and managing the increased risk of breast cancer in BRCA1/2 mutation carriers after a diagnosis of ovarian cancer can be challenging. For the first few years after an ovarian cancer diagnosis, BRCA1/2 mutation carriers have a relatively low risk of breast cancer, and their prognosis is largely determined by the ovarian cancer. However, if these women remain in remission after two years, the risk of breast cancer becomes comparable with, and in some cases exceeds, their risk of ovarian cancer recurrence. For these women, breast cancer surveillance and risk reduction becomes important to their overall health. Specifically, for BRCA1/2 carriers who are diagnosed with early-stage ovarian cancer, we recommend regular breast cancer surveillance and consideration of risk reduction with medication and/or prophylactic mastectomy. For women with advanced ovarian cancer who do not achieve remission, breast cancer surveillance or prophylaxis is not of value. However, among carriers with more favorable advanced disease, it is reasonable to initiate breast cancer surveillance. Patients with less favorable advanced stage disease who achieve sustained remission (>2-5years) should also consider more aggressive strategies for breast cancer screening and prevention. For mutation carriers who remain in remission after five years, prophylactic mastectomy can be considered.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Neoplasias da Mama/prevenção & controle
Neoplasias Ovarianas/genética
[Mh] Termos MeSH secundário: Neoplasias da Mama/diagnóstico
Feminino
Genes BRCA1
Genes BRCA2
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171211
[Lr] Data última revisão:
171211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170430
[St] Status:MEDLINE


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[PMID]:28454659
[Au] Autor:Bookman MA; Tyczynski JE; Espirito JL; Wilson TW; Fernandes AW
[Ad] Endereço:Health Economics and Outcomes Research, McKesson Specialty Health, The Woodlands, TX, USA. Electronic address: michael.bookman@usoncology.com.
[Ti] Título:Impact of primary platinum-free interval and BRCA1/2 mutation status on treatment and survival in patients with recurrent ovarian cancer.
[So] Source:Gynecol Oncol;146(1):58-63, 2017 07.
[Is] ISSN:1095-6859
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To understand the relationship between primary platinum-free interval (PFI), BRCA mutation status, and overall survival (OS) in patients with recurrent ovarian cancer receiving multiple lines of therapy in a multicenter, community-based, retrospective observational cohort study of adult patients with stage III-IV high-grade ovarian cancer. METHODS: Data were retrospectively obtained from the electronic health record (EHR) of a US community oncology network, including patient characteristics, subsequent treatments, primary PFI, and BRCA status. OS was analyzed by the Kaplan-Meier method, stratified by primary PFI and BRCA status. RESULTS: 750 patient charts were reviewed. BRCA testing status was known in 267 patients (16% BRCA mutation). Among patients with identified recurrent disease, 41% had a primary PFI <6months and 59% had a primary PFI ≥6months. Of second-line patients, 59% received third-line therapy, and 60% of third-line patients received fourth-line therapy within the period of observation. Median OS from the start of primary treatment for the entire population was 41.4months (95% CI, 39.0-48.3months). Median OS was significantly increased in patients with primary PFI ≥6months at second-line and third-line (P<0.0001 and P=0.002, respectively). Survival was observed to be increased among patients with BRCA mutations across multiple treatment lines, although this was not statistically significant. CONCLUSIONS: Patients with a primary PFI ≥6months demonstrated improved outcomes over multiple lines of therapy. BRCA status was known in 36% of patients, and those patients with a BRCA mutation demonstrated a trend toward delayed primary recurrence and improved clinical outcomes.
[Mh] Termos MeSH primário: Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem
Genes BRCA1
Genes BRCA2
Mutação em Linhagem Germinativa
Neoplasias Epiteliais e Glandulares/tratamento farmacológico
Neoplasias Epiteliais e Glandulares/genética
Neoplasias Ovarianas/tratamento farmacológico
Neoplasias Ovarianas/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Estimativa de Kaplan-Meier
Meia-Idade
Gradação de Tumores
Recidiva Local de Neoplasia/genética
Recidiva Local de Neoplasia/mortalidade
Recidiva Local de Neoplasia/terapia
Estadiamento de Neoplasias
Neoplasias Epiteliais e Glandulares/mortalidade
Compostos Organoplatínicos/administração & dosagem
Neoplasias Ovarianas/mortalidade
Estudos Retrospectivos
Estados Unidos/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Organoplatinum Compounds)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171211
[Lr] Data última revisão:
171211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170430
[St] Status:MEDLINE


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[PMID]:28985766
[Au] Autor:Jara L; Morales S; de Mayo T; Gonzalez-Hormazabal P; Carrasco V; Godoy R
[Ad] Endereço:Human Genetics Program, Institute of Biomedical Sciences (ICBM), School of Medicine, University of Chile, Santiago, Chile. ljara@uchile.cl.
[Ti] Título:Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
[So] Source:Biol Res;50(1):35, 2017 Oct 06.
[Is] ISSN:0717-6287
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Genes BRCA1
Genes BRCA2
Predisposição Genética para Doença/genética
Mutação
Neoplasias Ovarianas/genética
[Mh] Termos MeSH secundário: América Central
Feminino
Seres Humanos
América do Sul
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171008
[St] Status:MEDLINE
[do] DOI:10.1186/s40659-017-0139-2


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[PMID]:28961279
[Au] Autor:Sung PL; Wen KC; Chen YJ; Chao TC; Tsai YF; Tseng LM; Qiu JT; Chao KC; Wu HH; Chuang CM; Wang PH; Huang CF
[Ad] Endereço:Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
[Ti] Título:The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
[So] Source:PLoS One;12(9):e0185615, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:An important role of genetic factors in the development of breast cancer (BC) or ovarian cancer (OC) in Taiwanese (ethnic Chinese) patients has been suggested. However, other than germline BRCA1 or BRCA2 mutations, which are related to hereditary breast-ovarian cancer (HBOC), cancer-predisposition genes have not been well studied in this population. The aim of the present study was to more accurately summarize the prevalence of genetic mutations in HBOC patients using various gene panels ranging in size from BRCA1/2 alone to multi-gene panels. Among 272 HBOC patients analyzed, the prevalence of BRCA1, BRCA2 and non-BRCA1/2 pathogenic mutations was 7.7% (21/272), 6.8% (16/236) and 8.2% (13/159), respectively. The total mutation rate was 18.4% (50/272). Although no founder mutations were identified in this study, two recurrent mutations, BRCA1 (c.3607C>T) and BRCA2 (c.5164_5165 delAG), were found. The main pathogenic/likely pathogenic mutations in non-BRCA1/2 genes included ATM, BRIP1, FANCI, MSH2, MUYTH, RAD50, RAD51C and TP53. The prevalence rate of gene mutations in HBOC patients did not differ with respect to whether BC or OC was the first diagnosis or they presented a family history of the disease or their age at diagnosis. HBOC patients with both BC and OC exhibited a higher prevalence rate of mutations (50.0%) than patients with OC (25.0%) or BC (8.6%) alone. In conclusion, evaluation of hereditary cancer risk in Taiwan HBOC patients, particularly individuals with double cancer, is strongly encouraged. Panel testing can yield additional genomic information, and widespread and well-designed panel testing will help in assessing more accurate mutational prevalence of risk genes.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Genes BRCA1
Genes BRCA2
Predisposição Genética para Doença
Mutação
Neoplasias Ovarianas/genética
[Mh] Termos MeSH secundário: Estudos de Coortes
Feminino
Seres Humanos
Masculino
Meia-Idade
Linhagem
Taiwan
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170930
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185615


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[PMID]:28882436
[Au] Autor:Oza AM; Tinker AV; Oaknin A; Shapira-Frommer R; McNeish IA; Swisher EM; Ray-Coquard I; Bell-McGuinn K; Coleman RL; O'Malley DM; Leary A; Chen LM; Provencher D; Ma L; Brenton JD; Konecny GE; Castro CM; Giordano H; Maloney L; Goble S; Lin KK; Sun J; Raponi M; Rolfe L; Kristeleit RS
[Ad] Endereço:Princess Margaret Cancer Centre, University Health Network, 610 University Avenue, Toronto M5G 2M9, Canada. Electronic address: amit.oza@uhn.ca.
[Ti] Título:Antitumor activity and safety of the PARP inhibitor rucaparib in patients with high-grade ovarian carcinoma and a germline or somatic BRCA1 or BRCA2 mutation: Integrated analysis of data from Study 10 and ARIEL2.
[So] Source:Gynecol Oncol;147(2):267-275, 2017 Nov.
[Is] ISSN:1095-6859
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: An integrated analysis was undertaken to characterize the antitumor activity and safety profile of the oral poly(ADP-ribose) polymerase inhibitor rucaparib in patients with relapsed high-grade ovarian carcinoma (HGOC). METHODS: Eligible patients from Study 10 (NCT01482715) and ARIEL2 (NCT01891344) who received a starting dose of oral rucaparib 600mg twice daily (BID) with or without food were included in these analyses. The integrated efficacy population included patients with HGOC and a deleterious germline or somatic BRCA1 or BRCA2 (BRCA1/2) mutation who received at least two prior chemotherapies and were sensitive, resistant, or refractory to platinum-based chemotherapy. The primary endpoint was investigator-assessed confirmed objective response rate (ORR). Secondary endpoints included duration of response (DOR) and progression-free survival (PFS). The integrated safety population included patients with HGOC who received at least one dose of rucaparib 600mg BID, irrespective of BRCA1/2 mutation status and prior treatments. RESULTS: In the efficacy population (n=106), ORR was 53.8% (95% confidence interval [CI], 43.8-63.5); 8.5% and 45.3% of patients achieved complete and partial responses, respectively. Median DOR was 9.2months (95% CI, 6.6-11.6). In the safety population (n=377), the most frequent treatment-emergent adverse events (AEs) were nausea, asthenia/fatigue, vomiting, and anemia/hemoglobin decreased. The most common grade ≥3 treatment-emergent AE was anemia/hemoglobin decreased. Treatment-emergent AEs led to treatment interruption, dose reduction, and treatment discontinuation in 58.6%, 45.9%, and 9.8% of patients, respectively. No treatment-related deaths occurred. CONCLUSIONS: Rucaparib has antitumor activity in advanced BRCA1/2-mutated HGOC and a manageable safety profile.
[Mh] Termos MeSH primário: Genes BRCA1
Genes BRCA2
Mutação em Linhagem Germinativa
Indóis/uso terapêutico
Neoplasias Epiteliais e Glandulares/tratamento farmacológico
Neoplasias Epiteliais e Glandulares/genética
Neoplasias Ovarianas/tratamento farmacológico
Neoplasias Ovarianas/genética
Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Proteína BRCA1/genética
Proteína BRCA2/genética
Feminino
Seres Humanos
Indóis/efeitos adversos
Meia-Idade
Gradação de Tumores
Neoplasias Epiteliais e Glandulares/patologia
Neoplasias Ovarianas/patologia
Inibidores de Poli(ADP-Ribose) Polimerases/efeitos adversos
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE I; CLINICAL TRIAL, PHASE II; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA1 Protein); 0 (BRCA1 protein, human); 0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (Indoles); 0 (Poly(ADP-ribose) Polymerase Inhibitors); 8237F3U7EH (rucaparib)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170909
[St] Status:MEDLINE


  10 / 5419 MEDLINE  
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[PMID]:28881380
[Au] Autor:Hoskins PJ; Gotlieb WH
[Ad] Endereço:Medical Oncologist and Past President, Society of Gynecologic Oncology Canada, British Columbia Cancer Agency, Vancouver Center, BC, Canada.
[Ti] Título:Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature.
[So] Source:CA Cancer J Clin;67(6):493-506, 2017 Nov.
[Is] ISSN:1542-4863
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Answer questions and earn CME/CNE Fifteen percent of women with epithelial ovarian cancer have inherited mutations in the BRCA breast cancer susceptibility genes. Knowledge of her BRCA status has value both for the woman and for her family. A therapeutic benefit exists for the woman with cancer, because a new family of oral drugs, the poly ADP-ribose polymerase (PARP) inhibitors, has recently been approved, and these drugs have the greatest efficacy in women who carry the mutation. For her family, there is the potential to prevent ovarian cancer in those carrying the mutation by using risk-reducing surgery. Such surgery significantly reduces the chance of developing this, for the most part, incurable cancer. Despite these potential benefits, referral rates for genetic counseling and subsequent BRCA testing are low, ranging from 10% to 30%, indicating that these therapeutic and prevention opportunities are being missed. The authors have reviewed the relevant available literature. Topics discussed are BRCA and its relation to ovarian cancer, the rates of referral for genetic counseling/BRCA testing, reasons for these low rates, potential strategies to improve on those rates, lack of effectiveness of current screening strategies, the pros and cons of risk-reducing surgery, other prevention options, and the role and value of PARP inhibitors. CA Cancer J Clin 2017;67:493-506. © 2017 American Cancer Society.
[Mh] Termos MeSH primário: Genes BRCA1
Genes BRCA2
Aconselhamento Genético
Testes Genéticos
Neoplasias Ovarianas/genética
Encaminhamento e Consulta
[Mh] Termos MeSH secundário: Feminino
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Neoplasias Ovarianas/tratamento farmacológico
Neoplasias Ovarianas/prevenção & controle
Neoplasias Ovarianas/cirurgia
Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Poly(ADP-ribose) Polymerase Inhibitors)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170908
[St] Status:MEDLINE
[do] DOI:10.3322/caac.21408



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