Apolipoprotein E polymorphism and the risk of aneurysmal subarachnoid hemorrhage in a South Indian population.

Background: The rupture of a brain aneurysm causes bleeding in the subarachnoid space. This is known as aneurysmal subarachnoid hemorrhage (aSAH). We evaluated the association of apolipoprotein E () polymorphism and the risk of aSAH in a South Indian population.

Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.

Biallelic mismatch repair deficiency (bMMRD) in tumours is frequently associated with somatic mutations in the exonuclease domains of DNA polymerases POLE or POLD1, and results in a characteristic mutational profile. In this article, we describe the genetic basis of ultramutated high-grade brain tumours in the context of bMMRD. We performed exome sequencing of two second-cousin patients from a large consanguineous family of Indian origin with early onset of high-grade glioblastoma and astrocytoma.

Overexpression and lack of copy number variation in the BMI-1 gene in human glioma.

Malignant gliomas are neoplasms of the brain that are associated with a poor prognosis. The B-cell-specific Moloney murine leukemia virus integration site 1 (BMI-1) gene is one of the major cancer stem cell factors responsible for treatment failure in glioma. In the present study, the DNA-RNA-protein alterations in the BMI-1 gene were assessed in 50 glioma samples.