Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1879*
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BRCA2

NM_000059.4:p.E1879*

Associated Papers

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.

Mariya T et al.

Human Genome Variation, 2026

41565638 (PubMed )
Supplement: 41439_2026_335_MOESM2_ESM.xlsx › SupplementaryTable2

Colorimetric detection of single-nucleotide mutations based on rolling circle amplification and G-quadruplex-based DNAzyme.

Ouedraogo SY et al.

Analytical Methods : Advancing Methods and Applications, 2024

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 2024

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.

Kawamura M et al.

Journal of Human Genetics, 2023

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Japanese

Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.

Cioffi A et al.

Cancers, 2023

36612302 (PubMed )
Supplement: cancers-15-00306-s001.zip › cancers-2084904-supplementary.pdf

Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.

Vázquez-Romo R et al.

Frontiers in Oncology, 2023

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.

Ouedraogo SY et al.

Molecular Genetics and Genomics : Mgg, 2022

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Momozawa Y et al.

Jama Oncology, 2022

35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.pdf

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Shukla N et al.

Nature Communications, 2022

35585047 (PubMed )
Supplement: 41467_2022_30233_MOESM7_ESM.xlsx › Supplementary_Data_4

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 › Momozawa_et_al.

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_5

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.

Hu C et al.

Jco Precision Oncology, 2018

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf
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