Prehistoric BRCA1 Founder Variant Identified in Rwandan Breast Cancer Patients
Researchers have identified a prehistoric BRCA1 founder variant in Rwandan breast cancer cases that originated thousands of years ago.
Tag: Cascade Screening
Two Heart Disease Genes in One Family: Case Report Reveals Genetic Complexity of Dilated Cardiomyopathy
A 40-year-old woman with severe non-ischemic dilated cardiomyopathy carried likely pathogenic variants in both BAG3 and FLNC, a combination her ...
Experts Build a Framework for Telling Families What Autopsies Reveal After Sudden Cardiac Death
Forensic specialists from seven Balkan institutions have drawn up a structured, ethics-based pathway for communicating autopsy findings to bereaved families ...
Screening and Treating Hereditary Hemorrhagic Telangiectasia Early
Hereditary hemorrhagic telangiectasia (HHT) presents a fascinating area of medical research that revolves around genetic predisposition to abnormal blood vessel ...
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