Last Updated: September 15, 2022 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...
Last Updated: September 15, 2022 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...
Last Updated: October 7, 2023 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...