Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.A1327fs
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BRCA2

NM_000059.4:p.A1327fs

Associated Papers

Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.

Livshun S et al.

Scientific Reports, 2025

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM9_ESM.xlsx › Western_Asian_BRCA2

Repeat Next-Generation Sequencing Testing on Progression in Men With Metastatic Prostate Cancer Can Identify New Actionable Alterations.

Park JJ et al.

Jco Precision Oncology, 2024

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.pdf

Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.

Lai Z et al.

Bmc Cancer, 2022

34979999 (PubMed )
Supplement: 12885_2021_9082_MOESM1_ESM.pdf

Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

Gong Y et al.

International Journal of Molecular Sciences, 2021

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

Li MM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.

Zakrzewski F et al.

Bmc Cancer, 2019

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s008.xlsx › S7_Table

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

Cybulski C et al.

Clinical Genetics, 2015

TP53 mutations detected in circulating tumor cells present in the blood of metastatic triple negative breast cancer patients.

Fernandez SV et al.

Breast Cancer Research : Bcr, 2014

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

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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."