RESUMO
Germline and somatic genetic testing have become critical components of care for people with ovarian cancer. The identification of germline and somatic pathogenic variants as well as homologous recombination deficiency can contribute to the prediction of treatment response, prognostic outcome, and suitability for targeted agents (e.g. poly (ADP-ribose) polymerase (PARP) inhibitors). Furthermore, identifying germline pathogenic variants can prompt cascade genetic testing for at-risk relatives. Despite the clinical benefits and consensus recommendations from several organizations calling for universal genetic testing in ovarian cancer, only about one third of patients complete germline or somatic genetic testing. The members of the Society of Gynecologic Oncology (SGO) Clinical Practice Committee have composed this statement to provide an overview of germline and somatic genetic testing for patients with epithelial ovarian cancer, focusing on available testing modalities and options for care delivery.
Assuntos
Antineoplásicos , Neoplasias Ovarianas , Humanos , Feminino , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Inibidores de Poli(ADP-Ribose) Polimerases/farmacologia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/terapia , Carcinoma Epitelial do Ovário/terapia , Carcinoma Epitelial do Ovário/tratamento farmacológico , Antineoplásicos/uso terapêutico , Mutação em Linhagem Germinativa , Testes Genéticos , Poli(ADP-Ribose) Polimerases/genética , Poli(ADP-Ribose) Polimerases/uso terapêutico , Células Germinativas/patologia , Proteína BRCA1/genética , Proteína BRCA2/genéticaRESUMO
Plasma concentrations of immunoreactive ACTH and cortisol were monitored daily in chronically cannulated sheep fetuses during the last 3 weeks of gestation. A prepartum increase in fetal plasma cortisol occurred without a concomitant rise in fetal plasma ACTH. When fetal lambs were injected with various doses of ACTH-(1-24) and the plasma cortisol responses were integrated over time, the resulting changes in the log dose-response curves indicate that fetal adrenal sensitivity increases late in gestation. Thus, the marked rise in fetal plasma cortisol before birth can be explained, at least in part, by an increase in fetal adrenal sensitivity to ACTH.