Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1065fs
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BRCA1

NM_007294.4:p.D1065fs

Associated Papers

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.

Herold N et al.

Cancer Medicine, 2023

37345881 (PubMed )
Supplement: CAM4-12-15256-s001.xlsx › Table_S1

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Solano AR et al.

Cancers, 2021

34072659 (PubMed )
Supplement: cancers-13-02711-s001.zip › cancers-1233266-supplementary.pdf

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

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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."