Browsing by Author "Alvarez, Manuel"

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    ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
    (2008) Tapia, Teresa; Sanchez, Alejandro; Vallejos, Maricarmen; Alvarez, Carolina; Moraga, Mauricio; Smalley, Susan; Camus, Mauricio; Alvarez, Manuel; Carvallo, Pilar
    Besides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. A positive association of c. 5557G > A (p.D1853N) was found (OR 2.52, P = 0.008), when analyzed alone and in combination with an intronic variant IVS24-9delT (OR 3.97; P = 0.0003). We postulate that our discrepancies with other reports related to the associated ATM alleles to hereditary breast cancer, as well as discrepancies in the literature between other groups, could be explained by the diversity in the ethnic origins of families gathered in a sole study, and the selection of the control group. In relation to this issue, and based on genetic markers, we found that the Chilean group of breast cancer families in this study has a stronger European genetic component than our control sample selected randomly from the Chilean population.
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    Gallbladder disease is associated with insulin resistance in a high risk Hispanic population
    (ELSEVIER SCIENCE BV, 2006) Nervi, Flavio; Miquel, Juan Francisco; Alvarez, Manuel; Ferreccio, Catterina; Garcia Zattera, Maria Jose; Gonzalez, Robinson; Perez Ayuso, Rosa Maria; Rigotti, Attilio; Villarroel, Luis
    Background/Aims: We tested whether cholesterol gallstone disease (GS) is associated to insulin resistance and serum C-reactive protein (CRP) in a high risk population.
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    Malakoplakia mimicking a locally advanced colorectal neoplasm
    (2021) Irarrazaval-Mainguyague, Maria J.; Cabreras, Manuel; Oksenberg, Sebastian; Pulgar, Maria A.; Rojas, Francisco; Alvarez, Manuel; Quezada-Diaz, Felipe F.
    Malakoplakia is a rare disease. Clinical presentation is non-specific, making its diagnosis an incidental finding on histopathological analysis. The aim of this case report is to describe a patient diagnosed with colon, renal and soft tissue malacoplakia mimicking a locally advanced colorectal cancer. A 75-year-old man was admitted due to intense abdominal pain. No relevant findings at the physical examination. Computed tomography showed parietal thickening of the descending colon with left kidney, iliopsoasmuscle and retroperitoneum involvement. An elevated blood serum creatinine, elevated glycated hemoglobin and urinary infection were detected. Surgery was decided for suspicious symptomatic colonic neoplasm. Left segmental colectomy with left partial nephrectomy and retroperitoneal soft tissue resection was performed. Pathology report was compatible with malakoplakia. Malakoplakia is a rare disease and may affect multiple organs. Because there are no clinical-specific findings, diagnosis is usually made with histopathological study of the surgical specimen.
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    Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors
    (TAYLOR & FRANCIS INC, 2008) Tapia, Teresa; Smalley, Susan V.; Kohen, Paulina; Munoz, Alex; Solis, Luisa M.; Corvalan, Alejandro; Faundez, Paola; Devoto, Luigi; Camus, Mauricio; Alvarez, Manuel; Carvallo, Pilar
    Germline mutations in BRCA1 account for a low proportion of hereditary cases in diverse populations. Several efforts have been made to find new genes involved in the inheritance of breast cancer with no success until today. The participation of BRCA1 in the development of breast cancer has been proposed in several studies where hypermethylation of its promoter and a decrease in expression has been reported for sporadic cases and one study on familial cases. To explore the participation of BRCA1 in hereditary carcinogenesis through a different mechanism than the inheritance of germline mutations, we studied the methylation status of its promoter in breast tumors, from patients previously screened for BRCA1/BRCA2 germline mutations. We also determined the presence of the BRCA1 protein in these tumors and correlated both events with tumor grade, hormone receptors and ERBB2 presence. Promoter hypermethylation of the BRCA1 gene was detected in 51% of our biopsies, among which 67% did not express the respective protein. This result leads us to suggest that hypermethylation could be considered as an inactivating mechanism for BRCA1 expression, either as a first or second hit. Moreover, a number of biopsies with absence of expression on BRCA1 showed negative detection of estrogen and progesterone receptors, a similar phenotype to BRCA1 mutated breast tumors.