Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.N1784fs
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BRCA2

NM_000059.4:p.N1784fs

Associated Papers

Clinical and biological characteristics associated with loss-of-heterozygosity in endometrial cancer.

Blanc-Durand F et al.

Journal of Gynecologic Oncology, 2026

40707423 (PubMed )
Supplement: jgo-37-e10-s003.xls › jgo-37-e10-s003

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

Another rare case of high-grade RCC harbouring a somatic BRCA2 mutation.

Yates RL et al.

Virchows Archiv : an International Journal of Pathology, 2025

Impact of TSC2 loss on progression-free survival in uterine carcinosarcoma: A retrospective analysis.

Ichikawa R et al.

Fujita Medical Journal, 2025

41181577 (PubMed )
Supplement: fmj-11-155-s001.pdf

Nationwide implementation and evaluation of the Tumor-First workflow for genetic testing in ovarian carcinoma.

Witjes VM et al.

International Journal of Cancer, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.

Elmetnawy W et al.

Scientific Reports, 2025

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s011.xlsx › gBRCA___

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Hotspot BRCA1/2 Mutations in Tumors With Microsatellite Instability Suggest Passenger Mutation Status and Evaluation of Therapeutic Options.

Rajagopal PS et al.

Jco Precision Oncology, 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

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

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

Alvero AB et al.

Gynecologic Oncology, 2025

Significantly increased load of hereditary cancer-linked germline variants in infertile men.

Valkna A et al.

Human Reproduction Open, 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

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

Single-Hit and Multi-hit PIK3CA Short Variant Genomic Alterations in Clinically Advanced Prostate Cancer: A Genomic Landscape Study.

Basin MF et al.

Targeted Oncology, 2024

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

Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.

Vasseur D et al.

Npj Precision Oncology, 2024

38409229 (PubMed )
Supplement: 41698_2024_544_MOESM2_ESM.pdf

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.

Sokolenko AP et al.

Breast Cancer Research and Treatment, 2024

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Youssef ASE et al.

Clinical and Experimental Medicine, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

[Genetic testing in epithelial ovarian cancer: implementation of the 'Tumor-First' workflow].

Witjes VM et al.

Nederlands Tijdschrift Voor Geneeskunde, 2023

A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome.

Oki R et al.

Iju Case Reports, 2023

Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.

Garcia-Casado Z et al.

Journal of Personalized Medicine, 2022

Olaparib for Chinese metastatic castration-resistant prostate cancer: A real-world study of efficacy and gene predictive analysis.

Dong B et al.

Medical Oncology (northwood, London, England), 2022

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Lee BCH et al.

Nature Communications, 2022

35581206 (PubMed )
Supplement: 41467_2022_29920_MOESM3_ESM.xlsx › SD7

Importance of Early Next-Generation Sequencing in Microsatellite Unstable Colon Cancer With a High Tumor Mutation Burden.

Ashish S et al.

Cureus, 2022

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

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

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet2.docx

A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Conroy JM et al.

Plos One, 2021

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Lovejoy LA et al.

Genes, 2020

NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.

Delcourt T et al.

Cancers, 2020

33138022 (PubMed )
Supplement: cancers-12-03180-s001.pdf

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM4_ESM.xlsx › Sheet1

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

Molecular profile of BRCA-mutated biliary tract cancers.

Spizzo G et al.

Esmo Open, 2020

32576609 (PubMed )
Supplement: esmoopen-2020-000682supp001.pdf

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

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › S5_S7_Tables_Precision_Line_data_for_targeted_CDx_variants.xlsx › sheet_1

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
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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."