Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.C2765*
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BRCA2

NM_000059.4:p.C2765*

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.

Sahu S et al.

Plos Genetics, 2023

37713444 (PubMed )
Supplement: pgen.1010940.s008.xlsx › 11_codons

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

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

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

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.

Peelen T et al.

British Journal of Cancer, 2000

Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.

Unknown Author

Lancet (london, England), 1997

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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."