Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1258*
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BRCA1

NM_007294.4:p.E1258*

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.

Zheng-Lin B et al.

Molecular Diagnosis & Therapy, 2022

Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.

Maillet P et al.

Cancer Genetics and Cytogenetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."