RESUMO
No disponible
Assuntos
Feminino , Humanos , Predisposição Genética para Doença , Genes BRCA1 , Genes BRCA2 , Cronobiologia/genética , Neoplasias da Mama/genética , Gêmeos Monozigóticos/genética , Biomarcadores Tumorais/genética , Marcadores Genéticos/genética , MutaçãoRESUMO
OBJECTIVE: To detect mutations in the BRCA1 and BRCA2 genes by means of the protein truncation test (PTT) in a population in northern Portugal and Galicia with breast and ovarian cancer. DESIGN: Prospective study. SETTING: Patients in northern Portugal and Galicia with family history of breast and/or ovarian cancer.Patients. A total of 76 women with family history of breast cancer according to the BCLC criteria (Breast Cancer Linkage Consortium) were studied at IPATIMUP. MAIN RESULTS: Five cases (6.5%) with changes in the normal sequence in genes BRCA1 and BRCA2 were identified; three of these mutations occurred in the gene BRCA1 and the other two in the gene BRCA2. Two out of the three mutations found in the gene BRCA1 were de novo mutations. Changes detected in the normal sequence in the gene BRCA2 were mutations reported for the first time among the study population, according to the information obtained through the BCIC database (Breast Cancer Information Core). CONCLUSIONS: This was the first study in detecting individuals carrying mutations in the susceptibility breast cancer genes BRCA1 and BRCA2 among the population of northern Portugal and Galicia.
Assuntos
Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Neoplasias Ovarianas/genética , Neoplasias da Mama/etnologia , Análise Mutacional de DNA , Feminino , Humanos , Mutação , Neoplasias Ovarianas/etnologia , Portugal/epidemiologia , Estudos Prospectivos , Espanha/epidemiologiaRESUMO
Objetivo. Detectar mutaciones en los genes BRCA1 y BRCA2 mediante la prueba de truncamiento de proteínas (protein truncation test, PTT) en una población del norte de Portugal y Galicia con cáncer de mama y ovario. Diseño. Estudio prospectivo. Localización. Pacientes del norte de Portugal y Galicia con historia familiar de cáncer de mama y/u ovario. Pacientes. Se analizaron en el IPATIMUP 76 mujeres con historia familiar de cáncer de mama de acuerdo con los criterios del BCLC (Breast Cancer Linkage Consortium). Resultados principales. Se identificaron cinco casos (6,5 por ciento) con alteraciones de la secuencia normal de los genes BRCA1 y BRCA2, siendo tres de estas mutaciones en el gen BRCA1 y las otras dos en el gen BRCA2. De las tres mutaciones encontradas en el gen BRCA1, dos son mutaciones de novo. Las alteraciones detectadas en la secuencia normal del gen BRCA2 son mutaciones descritas por primera vez para la población en estudio, de acuerdo con la información obtenida a través de la base de datos del BCIC (Breast Cancer Information Core). Conclusiones. Este estudio permitió identificar por primera vez en la población del norte de Portugal y Galicia individuos portadores de mutaciones en los genes de susceptibilidad para el cáncer de mama BRCA1 y BRCA2. (AU)
Assuntos
Feminino , Humanos , Genes BRCA1 , Genes BRCA2 , Espanha , Mutação , Portugal , Estudos Prospectivos , Análise Mutacional de DNA , Neoplasias Ovarianas , Neoplasias da MamaAssuntos
Neoplasias da Mama/classificação , Neoplasias da Mama/genética , Predisposição Genética para Doença/classificação , Predisposição Genética para Doença/epidemiologia , Adulto , Idoso , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/mortalidade , Feminino , Genética Populacional , Guias como Assunto , Humanos , Incidência , Pessoa de Meia-Idade , Linhagem , Medição de Risco , Fatores de Risco , Sensibilidade e Especificidade , Espanha/epidemiologia , Taxa de SobrevidaRESUMO
El objetivo de este trabajo es demostrar las principales características morfológicas y de expresión de marcadores biológicos en el carcinoma de mama con mutaciones de los genes BRCA1 y BRCA2. El reconocimiento de estas características por los anatomopatólogos permitirá alertar al clínico para la investigación de posibles casos de cáncer de mama hereditario. Todo esto hará más efectiva y precisa la búsqueda de mutaciones, porque junto con las características clínicas seleccionará a las probables candidatas a someterse a los test genéticos (AU)
Assuntos
Adolescente , Adulto , Feminino , Humanos , Genes BRCA1/genética , Neoplasias da Mama/genética , Marcadores Genéticos/genética , Supressão Genética/genética , Técnicas Genéticas , Neoplasias da Mama/diagnóstico , Doenças Genéticas Inatas/genéticaRESUMO
No disponible
Assuntos
Pessoa de Meia-Idade , Adulto , Feminino , Humanos , Atenção Primária à Saúde , Saúde Global , Quimioprevenção , Prevenção Primária , Mastectomia , Neoplasias da MamaRESUMO
Humoral hypercalcemia of malignancy is a cancer-related hypercalcemia caused by production of humoral factors by malignant cells in patients without bone metastases. Squamous cell carcinomas are the tumors most frequently associated with humoral hypercalcemia of malignancy, and parathyroid hormone-related protein is the main humoral factor implicated. In spite of the fact that normal keratinocytes produce parathyroid hormone-related protein, it is highly unusual for patients with squamous cell carcinomas of the skin to present with humoral hypercalcemia of malignancy. We present a well-documented case of cutaneous squamous cell carcinoma complicated by hypercalcemia in a patient with high levels of plasma parathyroid hormone-related protein and immunohistochemical evidence of high parathyroid hormone-related protein production by the tumoral cells.
Assuntos
Carcinoma de Células Escamosas/complicações , Hipercalcemia/etiologia , Proteínas/análise , Neoplasias Cutâneas/complicações , Idoso , Carcinoma de Células Escamosas/química , Carcinoma de Células Escamosas/patologia , Evolução Fatal , Humanos , Imuno-Histoquímica , Masculino , Proteína Relacionada ao Hormônio Paratireóideo , Proteínas/metabolismo , Neoplasias Cutâneas/química , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: In contrast to typical papillary carcinoma, the tall cell variant (TCV) of thyroid papillary carcinoma has more aggressive biologic behavior. Attempts to make a specific diagnosis of TCV of papillary carcinoma based on fine needle aspiration cytology (FNAC) have been unsatisfactory. CASE: The cytologic and histologic study of one such case was made with an emphasis given to identifying the main histologic criteria for the specific diagnosis of TCV of papillary carcinoma in FNAC smears. "Tall cells" were defined as cells with abundant eosinophilic, elongated cytoplasm; the height of these cells was twice their width or more, and they have to constitute > 30% of the tumor cell population. Tall cells were not found in smears of 20 cases of nonaggressive papillary carcinomas investigated as control cases. Only one mitotic figure was found in one slide of one of the control cases (5%) in comparison to two and three mitotic figures found in the two slides of TCV of papillary carcinoma. CONCLUSION: In addition to conventional cytologic features of typical papillary carcinoma, the identification of both tall cells and mitotic figures in the same smears is highly indicative of TCV of papillary carcinoma. More studies will be necessary to confirm the usefulness of this clue.
