Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H839_S840delFs
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BRCA1

NM_007294.4:p.H839_S840delFs

Associated Papers

Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.

Cardona DS et al.

Cancer Epidemiology, 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
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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."