Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.N1544fs
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BRCA2

NM_000059.4:p.N1544fs

Associated Papers

Metastatic non-small cell lung cancer with BRCA2 mutation-a therapeutic challenge.

Naviwala SS et al.

Oxford Medical Case Reports, 2025

Exploring the differences between BRCA mutated and HRwild-type high grade serous ovarian cancer: A multiomic analysis.

Alvero AB et al.

Gynecologic Oncology, 2025

Analytical validation of a homologous recombination deficiency signature (HRDsig) in pan-tumor tissue samples.

Li W et al.

Plos One, 2025

41248118 (PubMed )
Supplement: pone.0336940.s006.xlsx › Sheet1

Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.

Ustun Yilmaz S et al.

Genes, 2024

38927659 (PubMed )
Supplement: genes-15-00724-s001.zip › genes-2990258-supplementary.pdf

Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.

Franco PI et al.

Jco Global Oncology, 2024

Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.

Subaşıoğlu A et al.

European Journal of Breast Health, 2023

Association of Homologous Recombination-DNA Damage Response Gene Mutations with Immune Biomarkers in Gastroesophageal Cancers.

Cerniglia M et al.

Molecular Cancer Therapeutics, 2022

Characterization of Blood-Based Molecular Profiling in Pancreatic Adenocarcinoma.

Chung C et al.

Oncology (williston Park, N.y.), 2021

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.

Turashvili G et al.

Cancers, 2020

Prostate Cancer Risk by BRCA2 Genomic Regions.

Nyberg T et al.

European Urology, 2020

32532514 (PubMed )
Supplement: mmc1.pdf

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Klek S et al.

Jnci Cancer Spectrum, 2020

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ARUP

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS et al.

Genome Medicine, 2019

31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.pdf

Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.

Dougherty BA et al.

Oncotarget, 2017

28525389 (PubMed )
Supplement: oncotarget-08-43653-s002.docx
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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."