BRCA1 frameshift variants leading to extended incorrect protein C termini

Summary: 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 therapeuti...

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Main Authors: Thales C. Nepomuceno, Tzeh Keong Foo, Marcy E. Richardson, John Michael O. Ranola, Jamie Weyandt, Matthew J. Varga, Amaya Alarcon, Diana Gutierrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond Kim, Susan Armel, Edwin Iversen, Fergus J. Couch, Åke Borg, Bing Xia, Marcelo A. Carvalho, Alvaro N.A. Monteiro
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:HGG Advances
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000726