Germline BRCA mutations are genetic alterations in the BRCA1 or BRCA2 genes, inherited from parents. These mutations significantly increase the risk of developing breast cancer,…
Epithelial ovarian cancer (EOC) is one of the most lethal gynecologic malignancies. Mutations in the BRCA1 and BRCA2 genes significantly increase the risk of developing…
Acute myelomonocytic leukemia (AMML) is a subtype of acute myeloid leukemia (AML) characterized by the proliferation of both monocytes and granulocytes. It is classified as…
Acute Myeloid Leukemia with Isocitrate Dehydrogenase-2 (IDH2) Mutation is a complex and aggressive hematologic malignancy characterized by the uncontrolled proliferation of abnormal myeloid cells. Among…
Acute Myeloid Leukemia with Isocitrate Dehydrogenase-1 (AML) is a heterogeneous hematologic malignancy characterized by the clonal proliferation of myeloid progenitor cells. Among the various genetic…
Acute Myeloid Leukemia with FLT3 Mutation is a hematologic malignancy characterized by the uncontrolled proliferation of myeloid precursor cells. Among its genetic mutations, the FMS-like…
The lysine methyltransferase 2A gene (KMT2A), formerly known as MLL, plays a critical role in regulating histone H3K4 methylation, a process essential for transcriptional activation. Translocations…
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare primary immunodeficiency caused by genetic mutations in the PIK3CD or PIK3R1 genes, which regulate the phosphoinositide…