PHOX2B Germline Mutation and Neuroblastoma: Genetic Evidence

In the intricate realm of genetics, certain master regulators hold the key to developing and functioning critical systems within our bodies. One such transcription factor is PHOX2B.

Read more

EPAS1 Mutations and Paraganglioma Insights from Recent Genetic Evidence

Paraganglioma, a rare neuroendocrine tumor, has long fascinated scientists and medical geneticists due to its enigmatic nature and potential genetic predisposition. Recent case reports in medical genetics have shed light on the connection between paraganglioma and mutations in the EPAS1 gene, which encodes the hypoxia-inducible factor 2-alpha (HIF-2α).

Read more

Association between Pathogenic Mutations in SMARCE1 and Meningioma: Summary of Case Reports and Multi-Patient Studies.

Read more

DIS3L2 Mutations and Predisposition to Nephroblastoma: Evidence of Associations Through Patient Cases and Cohort Studies

Nephroblastoma, commonly known as Wilms tumor, poses a significant health challenge in pediatric oncology.

Read more

Decoding RUNX1 Mutations: Exploring the Spectrum of Clinical Outcomes in Blood Disorders

Germline mutations in the RUNX1 gene are associated with a rare autosomal dominant disorder known as Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML).

Read more

ARMC5 Mutations and Meningioma

The ARMC5 gene codes for a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. ARM family members are observed near the nucleus and may play a role as a tumor suppressor through protein-protein interactions. 

Read more

SPINK1 Gene Mutation & Pancreatic Cancer

The serine protease inhibitor Kazal type 1 (SPINK1) is a potent anti-protease present in the cytoplasm of pancreatic cells, where its primary role is to prevent the auto-digestion of the gland by inactivating the intra-pancreatic trypsin enzyme.

Read more