Influence of BCL2-938C>A and BAX-248G>A promoter polymorphisms in the development of AML: case-control study from South India.

B-cell lymphoma 2 (BCL2) and BCL2-associated X protein (BAX) proteins are anti-apoptotic and pro-apoptotic determinants of mitochondrial-mediated apoptosis, and their relative expression determines the cell fate. The promoter polymorphisms in these genes were shown to alter the protein function or expression and exert an impact on apoptosis regulation. Deregulation in the expression of any of these genes leads to disruption of cellular homeostasis and malignant transformation.

HIF-1α (1772C>T) polymorphism as marker for breast cancer development.

Hypoxia-inducible factor 1α (HIF-1α) is an important transcription factor that regulates different cellular responses to hypoxia. HIF-1α is rapidly degraded by von Hippel-Lindau (VHL) protein under normoxic conditions and stabilized under hypoxia. A common variant of HIF-1α (1772C>T) (rs 11549465) polymorphism, corresponding to an amino acid change from proline to serine at 582 position within the oxygen-dependent degradation domain, results in increased stability of the protein and altered transactivation of its target genes.

Association of CYP19 polymorphisms with breast cancer risk: A case-control study.

Background: The CYP19 gene is located on chromosome 15 and it plays an important role in aromatization, which results in production of estrogen from androgens. The mutation in this gene can result in either increased or decreased aromatase activity.

Materials And Methods: A case-control study was designed to compare 250 breast cancer cases with 250 age-matched healthy controls.

Germline mutations of TP53 gene in breast cancer.

Germline alterations of the TP53 gene encoding the p53 protein have been observed in the majority of families with the Li-Fraumeni syndrome, a rare dominantly inherited disorder with breast cancer. Genomic DNA samples of 182 breast cancer cases and 186 controls were sequenced for TP53 mutations in the exon 5-9 and intervening introns 5, 7-9. Direct sequencing was done using Applied Biosystem 3730 DNA analyzer.

Multiple myeloma presenting with hepatosplenomegaly.

Multiple myeloma, a clonal plasma cell disorder, commonly affects adults above 50 years age and accounts for about 10% of all hematological malignancies. Anemia, bone pains, renal failure are the most common symptoms at presentation. Though extra-medullary extra-osseous disease is well known in the course of the disease, initial presentation with extramedullary disease alone is rare.

Epstein-Barr virus as a possible etiologic agent in primary central nervous system lymphoma in immunocompetent individuals.

Background: Primary central nervous system lymphoma (PCNSL) occurs in both immunocompetent and immunosuppressed individuals. The role of Epstein-Barr virus (EBV) has been implicated in immunosuppressed individuals but its role is not established in immunocompetent individuals.

Aims: To study the possible role of EBV in PCNSL in immunocompetent individuals.