Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.G2313Splc
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BRCA2

NM_000059.4:p.G2313Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.

Jiang Z et al.

Future Science Oa, 2025

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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 › Exon13

Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.

Bennett S et al.

European Journal of Human Genetics : Ejhg, 2021

33654310 (PubMed )
Supplement: 41431_2021_817_MOESM1_ESM.pdf

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Pritzlaff M et al.

Breast Cancer Research and Treatment, 2017

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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."