Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.M1090delFs
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BRCA2

NM_000059.4:p.M1090delFs

Associated Papers

Functional RECAP (REpair CAPacity) assay identifies homologous recombination deficiency undetected by DNA-based BRCAness tests.

Meijer TG et al.

Oncogene, 2022

35662281 (PubMed )
Supplement: 41388_2022_2363_MOESM1_ESM.xlsx › primary_meta_BC

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

Mohammadi L et al.

Bmc Cancer, 2009

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

Kets CM et al.

British Journal of Cancer, 2006

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

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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."