The ability to evade protection mechanisms and uncontrolled cell growth can lead to the development of mutations, whether somatic or germline, and consequently to the dreaded diagnosis of cancer. Breast cancer is considered the most common type of cancer in women in several regions of Brazil, mainly in t...
Introdução: A síndrome de von Hippel-Lindau (VHL) é uma patologia hereditária autossômica dominante que envolve o crescimento de
tumores em diversas regiões do corpo humano em razão da mutação no gene VHL. Relato do caso: Paciente, sexo masculino, 38 anos,
há três anos queixava-se de cefaleia...
As Neoplasias Mieloides com predisposição germinativa têm a participação do fator hereditário na sua fisiopatologia. O tratamento curativo da Leucemia Mieloide Aguda (LMA) e Síndrome Mielodisplásica (SMD) de alto risco baseia-se na realização de transplante de medula óssea (TMO) alogênico de ...
Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing show...
Nagy, Tauana Rodrigues;
Maistro, Simone;
Encinas, Giselly;
Katayama, Maria Lucia Hirata;
Pereira, Glaucia Fernanda de Lima;
Gaburo-Júnior, Nelson;
Franco, Lucas Augusto Moyses;
Gouvêa, Ana Carolina Ribeiro Chaves de;
Diz, Maria del Pilar Estevez;
Leite, Luiz Antonio Senna;
Folgueira, Maria Aparecida Azevedo Koike.
OBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC...
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the con...
O Câncer de Mama Triplo-Negativo (CMTN), caracterizado pela perda de expressão dos receptores de estrógeno (RE), de progesterona (RP) e pela não super-expressão/amplificação do receptor do fator de crescimento epidermal humano do tipo 2 (HER-2), é considerado um subtipo bastante agressivo e heter...
Martins-Costa, Maria Cecília;
Lindsey, Susan C;
Cunha, Lucas L;
Carreiro-Filho, Fernando Porto;
Cortez, André P;
Holanda, Marcelo E;
Farias, J Wilson M de;
Lima, Sérgio B;
Ferreira, Luís A Albano;
Maia Filho, Pedro Collares;
Camacho, Cléber P;
Furuzawa, Gilberto K;
Kunii, Ilda S;
Dias-da-Silva, Magnus R;
Martins, João R M;
Maciel, Rui M B.
ABSTRACT Objective: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. Subjects and methods:...
Factores de Edad,
Brasil,
Carcinoma Neuroendocrino/diagnóstico,
Carcinoma Neuroendocrino/genética,
Carcinoma Neuroendocrino/patología,
Detección Precoz del Cáncer,
Reordenamiento Génico/genética,
Estudios de Asociación Genética,
Tamización de Portadores Genéticos/métodos,
Mutación de Línea Germinal/genética,
Inmunohistoquímica,
Proteínas Proto-Oncogénicas c-ret/genética,
Reproducibilidad de los Resultados,
Medición de Riesgo,
Factores de Riesgo,
Neoplasias de la Tiroides/diagnóstico,
Neoplasias de la Tiroides/genética,
Neoplasias de la Tiroides/patología,
Factores de Tiempo,
Transfección/métodos
Mastellaro, Maria J;
Ribeiro, Raul C;
Oliveira-Filho, Antônio G;
Seidinger, Ana L;
Cardinalli, Izilda A;
Miranda, Eliana C M;
Aguiar, Simone S;
Brandalise, Silvia R;
Yunes, José A;
Barros-Filho, Antônio A.
Abstract Objective: To evaluate the clinical features associated with adrenocortical hormone overexpression and familial cancer profiling as potential markers for early detection of adrenocortical tumors in children from South and Southeast Brazil. Methods: The clinical manifestations and anthropometri...
