Search results for "BRCA1"
showing 5 items of 65 documents
Molecular screening of the BRCA1/2 genes and clinical significance of unknown sequence variants in families with hereditary breast/ovarian cancer
2012
Cáncer hereditario: Importancia y necesidad de su detección
2013
A pesar de que tan solo el 1% de los casos de cáncer se pueden considerar de tipo hereditario, en la actualidad se han descrito más de 200 síndromes caracterizados por la agregación familiar de distintos tipos de tumores. La identificación a lo largo del siglo XX de muchos de los genes responsables de estos síndromes ha permitido un gran avance en el manejo de estas familias, a la hora de identificar o descartar los individuos a riesgo y establecer unas medidas preventivas específicas. Sin embargo, existe todavía un alto porcentaje de los casos hereditarios en los que la causa de la susceptibilidad es desconocida, siendo la búsqueda de nuevos genes mediante las nuevas tecnologías una de la…
Genetic profile and immunohistochemical study of clear cell renal carcinoma: Pathological-anatomical correlation and prognosis.
2021
Abstract Introduction Renal cell carcinoma (RCC) accounts for 2–3% of all tumors being the most frequent solid lesion in the kidney. Objective To determine what genetic alterations and immunohistochemical (IHC) of clear cell renal carcinoma (ccRCC) are associated with prognosis and tumor aggressiveness. Patients and Methods Experimental analytical study with 57 patients who underwent radical and partial nephrectomy between 2005 and 2011, all with diagnosis of ccRCC and minimum post-operative follow-up of 36 months. The pathological study included IHC determination of biomarkers associated (CAIX, CAM 5.2, CD10, c-erbB-2, EGFR, HIF-1a, Ki67, MDM2, PAX-2 y 8, p53, survivin and VEGFR 1 and 2). …
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
1999
Two biallelic polymorphisms in introns 3 and 6 of the p53 gene were analysed for a possible risk-modifying effect for ovarian cancer. Germline DNA was genotyped from 310 German Caucasian ovarian cancer patients and 364 healthy controls. We also typed 124 affected and 276 unaffected female carriers with known deleterious BRCA1 or BRCA2 germline mutation from high-risk breast-ovarian cancer families. Genotyping was based on PCR and high-resolution gel electrophoresis. German ovarian cancer patients who carried the rare allele of the MspI restriction fragment length polymorphism (RELP) in intron 6 were found to have an overall 1.93-fold increased risk (95% confidence internal (CI) 1.27–2.91) w…