Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1327delFs
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BRCA1

NM_007294.4:p.Q1327delFs

Associated Papers

Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.

Lara Gutierrez A et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40188947 (PubMed )
Supplement: mmc1.xlsx › LDT

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

Kroiss R et al.

Human Mutation, 2005

Novel somatic mutations in the BRCA1 gene in sporadic breast tumors.

Janatova M et al.

Human Mutation, 2005

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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."