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Updated: Jul 7, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer
S Eric Martin1, Mark Sausen, Abraham Joseph
1Helen F. Graham Cancer Center, 4701 Ogletown-Stanton Road, Suite 2200, Newark, DE 19713, USA. semartin@cbg.org
Abstract:
An African American individual with early onset breast cancer has a unique BRCA1 germline mutation, E1644X, that truncates the protein's carboxy terminal region. DNA sequencing for E1644X mutation and five BRCA1 exon-11 single nucleotide polymorphisms showed tumor LOH. Clinical history suggests paternal transmission of the deleterious allele, and tumor polymorphisms provide some insight into the ancestral origins of the mutation.
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