Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1493fs
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BRCA2

NM_000059.4:p.E1493fs

Associated Papers

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

Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.

Kokemüller L et al.

International Journal of Cancer, 2025

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L et al.

Journal of the National Cancer Institute, 2024

38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S2

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

39061189 (PubMed )
Supplement: cancers-16-02547-s001.zip › cancers-3068792-supplementary.pdf

Germline findings in cancer predisposing genes from a small cohort of chordoma patients.

Raygada M et al.

Journal of Cancer Research and Clinical Oncology, 2024

A glycolytic metabolite bypasses "two-hit" tumor suppression by BRCA2.

Kong LR et al.

Cell, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_13

Prevalence of BRCA1, BRCA2, and PALB2 genomic alterations among 924 Taiwanese breast cancer assays with tumor-only targeted sequencing: extended data analysis from the VGH-TAYLOR study.

Cheng HF et al.

Breast Cancer Research : Bcr, 2023

The Landscape of BRCA Mutations among Egyptian Women with Breast Cancer.

Azim HA et al.

Oncology and Therapy, 2023

37731153 (PubMed )
Supplement: 40487_2023_240_MOESM1_ESM.pdf

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

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.

Astiazaran-Symonds E et al.

Cancers, 2022

35805029 (PubMed )
Supplement: cancers-14-03257-s001.zip › cancers-1784616-supplementary.pdf

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

Case Report: Sustained complete remission on combination therapy with olaparib and pembrolizumab in BRCA2-mutated and PD-L1-positive metastatic cholangiocarcinoma after platinum derivate.

Zhou T et al.

Frontiers in Oncology, 2022

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S8._Germline_P_LP

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

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

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

Reversion and non-reversion mechanisms of resistance to PARP inhibitor or platinum chemotherapy in BRCA1/2-mutant metastatic breast cancer.

Waks AG et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2020

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

Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.

Mijuskovic M et al.

British Journal of Cancer, 2018

Integrative clinical genomics of metastatic cancer.

Robinson DR et al.

Nature, 2017

28783718 (PubMed )
Supplement: NIHMS888166-supplement-Supplementary_Tables.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

Treatment of breast cancer 2 (BRCA2)-mutant follicular dendritic cell sarcoma with a poly ADP-ribose polymerase (PARP) inhibitor: a case report.

Lemech CR et al.

Bmc Research Notes, 2016

Integrative clinical genomics of advanced prostate cancer.

Robinson D et al.

Cell, 2015

Prevalence of BRCA1 and BRCA2 Germline Mutations in Vietnamese Patients With Triple-Negative Breast Cancer.

Toan TT et al.

Cancer Control : Journal of the Moffitt Cancer Center, 0

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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."