Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H1746_Q1747insFs
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BRCA1

NM_007294.4:p.H1746_Q1747insFs

Associated Papers

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Chinese

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

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Koczkowska M et al.

Cancers, 2018

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.

Southey MC et al.

British Journal of Cancer, 2011

Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations.

Dite GS et al.

Journal of the National Cancer Institute, 2003

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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."