Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E729delFs
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BRCA1

NM_007294.4:p.E729delFs

Associated Papers

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

Pan-cancer landscape of homologous recombination deficiency.

Nguyen L et al.

Nature Communications, 2020

33149131 (PubMed )
Supplement: 41467_2020_19406_MOESM7_ESM.xlsx › hgvs_c

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

Konecny M et al.

Breast Cancer Research and Treatment, 2011

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

Alharbi KK et al.

Genome Research, 2005

MYC is amplified in BRCA1-associated breast cancers.

Grushko TA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004

CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q.

Nathanson KL et al.

Human Molecular Genetics, 2002

Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

Peto J et al.

Journal of the National Cancer Institute, 1999

Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

Andersen TI et al.

Human Mutation, 1998

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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."