Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R2645fs
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BRCA2

NM_000059.4:p.R2645fs

Associated Papers

Functional Characterization and a Real-World Clinical Laboratory Pilot of the Foundation for the National Institutes of Health Circulating Tumor DNA Quality Control Materials.

Paweletz CP et al.

Jco Precision Oncology, 2025

Clinical and Technical Validation of OncoIndx® Assay-A Comprehensive Genome Profiling Assay for Pan-Cancer Investigations.

Ramesh A et al.

Cancers, 2024

Analytical and Clinical Validation of a Highly Sensitive NGS-Based ctDNA Assay with Real-World Concordance in Non-Small Cell Lung Cancer.

Yi H et al.

Cancer Research and Treatment, 2024

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Hallermayr A et al.

Frontiers in Oncology, 2022

36636551 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_10

Validation of ctDNA Quality Control Materials Through a Precompetitive Collaboration of the Foundation for the National Institutes of Health.

Williams PM et al.

Jco Precision Oncology, 2021

Prostate Cancer Risk by BRCA2 Genomic Regions.

Nyberg T et al.

European Urology, 2020

32532514 (PubMed )
Supplement: mmc1.pdf

Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.

Weber S et al.

Cancers, 2020

32560092 (PubMed )
Supplement: cancers-12-01588-s001.zip › Table_S5.xlsx › Table_S5

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Petridis C et al.

Breast Cancer Research : Bcr, 2019

31060593 (PubMed )
Supplement: 13058_2019_1143_MOESM2_ESM.xlsx › Sheet1

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

Copson ER et al.

The Lancet. Oncology, 2018

29337092 (PubMed )
Supplement: mmc1.pdf

BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.

Francies FZ et al.

Bmc Cancer, 2015

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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."