RESUMO
Cancer is essentially a genetic disease resulting from congenital or acquired alterations in some cells of the patient. Such changes may occur in particular oncogens and are responsible for the tumour phenotype of the affected population of cells. In contrast, unaltered tumour-suppressor genes are responsible for suppressing the neoplastic phenotype, and their inactivation by deletion or mutation permits cancerous development in the affected cells. The genetic model of carcinogenesis is based on the idea mutations at the DNA level, what creates a functional imbalance between the oncogenes and the tumour-suppressor genes, resulting in uncontrolled clonal proliferation. The ret/PTC oncogene is unique to papillary thyroid cancer. The paper presents a correlation analysis between chromosomal changes in papillary thyroid cancer and abnormalities of chromosomes in patients with breast cancer and chronic lymphocytic leukemia.
Assuntos
Neoplasias da Mama/genética , Carcinoma Papilar/genética , Aberrações Cromossômicas , Leucemia Linfocítica Crônica de Células B/genética , Neoplasias Primárias Múltiplas/genética , Neoplasias da Glândula Tireoide/genética , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/secundário , DNA de Neoplasias/genética , Feminino , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , MutaçãoRESUMO
A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well as karyotype-phenotype correlation are discussed.