Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q3047*
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BRCA2

NM_000059.4:p.Q3047*

Associated Papers

Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap.

Gu J et al.

Nature Biotechnology, 2025

39375448 (PubMed )
Supplement: 41587_2024_2386_MOESM1_ESM.pdf

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

CRISPRmap: Sequencing-free optical pooled screens mapping multi-omic phenotypes in cells and tissue.

Gu J et al.

Biorxiv : the Preprint Server for Biology, 2023

38234835 (PubMed )
Supplement: media-5.xlsx › ClinVar_update_Dec2023

BRCA2 reversion mutation confers resistance to olaparib in breast cancer.

Yamamoto S et al.

Clinical Case Reports, 2023

Landscape of potentially targetable receptor tyrosine kinase fusions in diverse cancers by DNA-based profiling.

Wang T et al.

Npj Precision Oncology, 2022

36369474 (PubMed )
Supplement: 41698_2022_325_MOESM1_ESM.pdf

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Kluska A et al.

Bmc Medical Genomics, 2015

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.

Pylkäs K et al.

Carcinogenesis, 2007

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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."