Cancer, Diseases and Disorders, Diseases Associated with DNA Abnormalities, DNA Repair Disorders
Last Updated: May 26, 2026 BRCA1 Gene and Protein Functions The BReast CAncer 1, early onset gene (BRCA1) which encodes the breast cancer type 1 susceptibility protein was originally identified in 1994 as a causative gene in hereditary breast and ovarian cancers. The...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, DNA Repair Disorders
Last Updated: June 2, 2026 Introduction to Xeroderma Pigmentosum Xeroderma pigmentosum defines a class of autosomal recessive inherited diseases that are characterized clinically by sun sensitivity that results in progressive degeneration of sun exposed areas of the...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, DNA Repair Disorders
Last Updated: June 2, 2026 Introduction to Ataxia Telangiectasia Ataxia telangiectasia (AT) is an autosomal recessive disorder that is characterized by hypersensitivity to ionizing radiation, progressive truncal ataxia affecting the gait with onset by 1 to 3 years of...