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1.
Ann Pathol ; 40(2): 70-77, 2020 Apr.
Artigo em Francês | MEDLINE | ID: mdl-32046878

RESUMO

Patients who carry the BReast Cancer 1 or 2 (BRCA) gene mutations have an underlying hereditary predisposition for breast and ovarian cancers. These deleterious genetic mutations are the most common ones implicated in hereditary breast and ovarian cancers. Oncogenetic counselling plays a key role in identifying patient for BRCA testing and for mutation identification. BRCA1/2 carriers have to be followed up regularly and may justify breast and/or adnexal prophylactic surgery, according to the French National Cancer Institute guidelines (INCa). Poly- (DNA-riboses) polymerases inhibitors, notably olaparib, have a major role in the management of epithelial ovarian cancer in patients with BRCA mutation and many studies are ongoing to expand their indications in a near future.


Assuntos
Síndrome Hereditária de Câncer de Mama e Ovário , Proteína BRCA1/análise , Proteína BRCA1/genética , Proteína BRCA2/análise , Proteína BRCA2/genética , Feminino , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Testes Genéticos , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Síndrome Hereditária de Câncer de Mama e Ovário/tratamento farmacológico , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Humanos , Mutação , Neoplasias Ovarianas/tratamento farmacológico , Ftalazinas/uso terapêutico , Piperazinas/uso terapêutico , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico
3.
J Med Case Rep ; 15(1): 210, 2021 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-33888155

RESUMO

BACKGROUND: Homologous recombination deficiency is a marker of response to poly(ADP-ribose) polymerase inhibitors in different cancer types including ovary, prostate, and pancreatic cancer. To date, no report about poly(ADP-ribose) polymerase inhibitors has been published on cervical cancer. CASE PRESENTATION: Here we present the case of a patient with cervical cancer treated in this setting. A 49-year-old woman diagnosed with International Federation of Obstetricians and Gynecologists stage 2018 IIIC2 locally advanced undifferentiated cervical cancer received first-line chemoradiotherapy followed by carboplatin, paclitaxel, and bevacizumab with partial response. Because of a family history of cancers, the patient was tested and found positive for a pathogenic BRCA1 germline and somatic mutation, which motivated bevacizumab plus olaparib maintenance treatment. A simple hysterectomy was performed after 2 years stable disease; pathological report showed complete pathological response, and 12 months follow-up showed no recurrence. CONCLUSION: Poly(ADP-ribose) polymerase inhibitors could be an alternative maintenance treatment for patients with persistent advanced cervical cancer previously treated with platinum, especially when familial history of cancers is reported. Clinical trials using poly(ADP-ribose) polymerase inhibitors for advanced cervical cancer are warranted.


Assuntos
Neoplasias Ovarianas , Neoplasias do Colo do Útero , Proteína BRCA1/genética , Bevacizumab/uso terapêutico , Quimiorradioterapia , Feminino , Humanos , Pessoa de Meia-Idade , Mutação , Recidiva Local de Neoplasia/tratamento farmacológico , Neoplasias Ovarianas/tratamento farmacológico , Ftalazinas , Piperazinas , Neoplasias do Colo do Útero/tratamento farmacológico , Neoplasias do Colo do Útero/genética
4.
Bull Cancer ; 105(3): 228-233, 2018 Mar.
Artigo em Francês | MEDLINE | ID: mdl-29426740

RESUMO

INTRODUCTION: Adapted physical activity (APA) is recognized as an effective supportive care for asthenia and quality of life in oncology. Before an APA program was organized, the feasibility of such a program was evaluated among the patients. METHODS: Descriptive, prospective, semi-qualitative, single-center study over a 3-month period in patients treated with ambulatory chemotherapy for digestive cancer. A self-questionnaire was offered to all patients to evaluate their practice and knowledge about APA. In ten patients, fatigue, anxiety and depression were assessed, before and after 9 weeks of hospital-based APA. The scores were compared by matched Student test. RESULTS: Of the 123 patients treated, 80 questionnaires (65%) were exploitable. Before the diagnosis of cancer, 40 patients (50%) were physically active, 20% after (n=16). The reasons for not practicing were: lack of interest/not the idea (42%), lack of time (34%), do not believe in profit (9%), too expensive (8%). Fifty-three patients (66%) were interested in the program. In 10 patients, the APA program significantly reduced the depression score (P=0.024) and a non-significant improvement in anxiety and fatigue. DISCUSSION: This study shows that patients treated with chemotherapy are unaware of the usefulness of APA and that medical information can improve adherence to such a program. The establishment of an intra-hospital APA program proved to be possible and relevant.


Assuntos
Assistência Ambulatorial/métodos , Neoplasias do Sistema Digestório/tratamento farmacológico , Exercício Físico , Desenvolvimento de Programas , Adulto , Idoso , Idoso de 80 Anos ou mais , Ansiedade/diagnóstico , Depressão/diagnóstico , Neoplasias do Sistema Digestório/psicologia , Fadiga/diagnóstico , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Inquéritos e Questionários
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