Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.T598fs
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BRCA2

NM_000059.4:p.T598fs

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.

Huang CC et al.

Biomedical Reports, 2025

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Smyk M et al.

Genes, 2023

36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S4.pdf

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers.

Huang CC et al.

Annals of Surgical Oncology, 2022

Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.

Emelyanova M et al.

Therapeutic Advances in Medical Oncology, 2022

35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1

Classification of High-Grade Serous Ovarian Carcinoma by Epithelial-to-Mesenchymal Transition Signature and Homologous Recombination Repair Genes.

Sohn MH et al.

Genes, 2021

34356119 (PubMed )
Supplement: genes-12-01103-s001.zip › Table_S3.xlsx › Sheet1

Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Huang CC et al.

Bmc Cancer, 2021

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.

Xu Z et al.

Hereditary Cancer in Clinical Practice, 2021

The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.

Liu M et al.

Translational Lung Cancer Research, 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 › ENIGMA

BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.

Ko JM et al.

International Journal of Cancer, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant

Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.

Hernan I et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 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."