BSTRACT BSTRACT Objectives: to identify the profile of the caregivers of terminally ill patient, to inquire the activities, changes and difficulties. The researchers applied a questionnaire. From all the 53 caregivers, 48 were female. 92% of the caregivers were relative to the patient. Despite of the financial problems, their relationship between caregiver and patient improved. The hygiene cares, feeding, medication were responsibility of the caregiver. The activities developed increased their amount of job, negative physical and psychical repercussions appeared. 60% of the caregivers answered that the most convenient place of the patient's death was the hospital, 40% chose home. There is a distinction between the routine of care and the death of the patient; the caregivers in fact take care of life. Descriptors Descriptors Descriptors Descriptors Descriptors: Bioethics; Terminally ill; Quality of life; Hospice care; Caregivers. RESUMEN RESUMEN RESUMEN RESUMEN RESUMEN Objetivos: identificar el perfil de los cuidadores del enfermo terminal, investigar las actividades, los cambios y las dificultades que ocurrieron. Los investigadores aplicaran un cuestionario. De los 53 cuidadores, 48 eran mujeres. 92% tenían algún grado de parentesco con el paciente. A pesar de los problemas financieros, los cuidadores afirmaron que su relación ha mejorado. Los cuidados de higiene, alimentación, medicación son de responsabilidad de los cuidadores. Aumentaron la sobrecarga y, surgieron repercusiones negativas de naturaleza física y psíquica. 60% de los cuidadores dijeron que el lugar más conveniente de la muerte era el hospital y 40% eligieron hogar. Existe una distinción entre los cuidados con el paciente y el proceso de muerte, los cuidadores cuidan de facto de la vida. 9 9 jan-fev jan-fev jan-fev jan-fev jan-fev; 6

A variabilidade intrínseca ao paciente, com mudanças no perfil molecular da doença primária para metastática e ao longo do tratamento, apresenta desafios à Medicina Personalizada. Neste capítulo, serão descritos os principais cânceres ginecológicos, delineando seus potenciais biomarcadores, genes drivers e terapias dirigidas.

Background: Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms. Most frequently, they occur in the digestive system, and breast neuroendocrine tumors constitute less than 1% of all of them. Germline mutations can increase the risk of developing tumors and predispose to hereditary cancer syndromes. Some NENs are well-established components of common hereditary syndromes. Recently, whole genomic sequencing revealed that 17% of apparently sporadic pancreatic NENs carried germline mutations, including DNA repair genes, such as BRCAs. It is well known that this gene plays a role in hereditary breast cancer, but variations in these genes were not described in patients with breast/ ileum neuroendocrine tumors. We present a patient with a neuroendocrine tumor and a germline pathogenic variant in BRCA2. Case report: A 44-year-old female patient presented with a palpable lesion at the right breast, with 1.1×1.4 cm, and a biopsy confirmed an invasive ductal carcinoma, grade 2. Immunohistochemistry revealed a neuroendocrine breast carcinoma (ER10% PR5%, HER2 negative, Ki-67=8%). The regular staging examinations did not show any abnormalities, but a 68Ga PET/CT demonstrated an ileum wall thickening with a marked expression of somatostatin receptors compatible with primary disease, with mesenteric lymph nodes and hepatic lesions suggestive of metastasis, in addition to the right breast lesion that could be either a secondary implant or a primary synchronic tumor. A detailed family history did not reveal any important cancer cases in the family except for the father and a paternal uncle, both with prostate cancer at 72 and 85 years old, respectively. Germline genetic analysis confirmed the presence of a heterozygous pathogenic variant in BRCA2 (c.2167delA;p.Ser723Alafs*7). The patient is currently being treated with octreotide LAR with good tolerance and stable disease. Final comments: This case shows the importance of molecular germline investigation in patients with NENs. This patient adds knowledge to the association of the BRCA2 gene and neuroendocrine tumors.

Diariamente, estamos expostos a diversos fatores capazes de atingir e mudar o DNA. Mas também temos um maquinário capaz de corrigir essas mudanças (mutações). Quando esse maquinário é ineficaz, acumulamos mutações no DNA que levam ao surgimento do câncer.