Article
BRCA1 frameshift variants leading to extended incorrect protein C termini.
HGG advances - 12 Oct 2023
Nepomuceno Thales C, Foo Tzeh Keong, Richardson Marcy E, Ranola John Michael O, Weyandt Jamie, Varga Matthew J, Alarcon Amaya, Gutierrez Diana, von Wachenfeldt Anna, Eriksson Daniel, Kim Raymond, Armel Susan, Iversen Edwin, Couch Fergus J, Borg Åke, Xia Bing, Carvalho Marcelo A, Monteiro Alvaro N A
Abstract excerpt
Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of targeted preventive and therapeutic interventions. Despite significant progress in variant classification efforts, a sizable portion of reported BRCA1 variants...
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