Objective: To review the demographic and pathological pattern of neuro-epithelial brain tumors in a tertiary referral center in the Eastern Province of Saudi Arabia and to compare the results of our study with other national and international studies.
Methods: This is a retrospective chart-review study of all patients with neuro-epithelial brain tumors referred and treated in our center between January 2010 and January 2015. The age, gender, tumor location, and histopathology were recorded.
Objectives: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers. This is the first study to characterize the GI phenotype in BMMRD using both retrospective and prospective surveillance data.
Methods: The International BMMRD Consortium was created to collect information on BMMRD families referred from around the world.
Background: Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited.
Methods: We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed.