Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.W1692fs
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BRCA2

NM_000059.4:p.W1692fs

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

Identification and Computational Analysis of BRCA2 Variants in Mexican Women from Jalisco, Mexico, with Breast and Ovarian Cancer.

García-Verdín PM et al.

Medical Sciences (basel, Switzerland), 2025

Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.

Yang B et al.

World Journal of Surgical Oncology, 2025

41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations

Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.

Grech L et al.

Molecular Genetics & Genomic Medicine, 2025

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.

Deugd R et al.

Diseases (basel, Switzerland), 2025

40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Vietri MT et al.

International Journal of Molecular Sciences, 2025

Prostate Ductal Adenocarcinoma Revisited: Clinicopathological and Genomic Characterization Identifies Heterogenous Group of Diseases with Implications for Patient Management.

Cai Q et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.

Guan X et al.

Bmc Cancer, 2025

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

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.

Shirota H et al.

Cancer Medicine, 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

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

Alvero AB et al.

Gynecologic Oncology, 2025

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.

Grigore LG et al.

Current Issues in Molecular Biology, 2024

Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.

Stubbins RJ et al.

Haematologica, 2024

37139596 (PubMed )
Supplement: 2022_281580_STUBBINS_SUPPL.pdf

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

Germline DNA-Repair Genes and HOXB13 Mutations in Korean Men with Metastatic Prostate Cancer: Data from a Large Korean Cohort.

Song SH et al.

The World Journal of Men's Health, 2023

BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.

Petrelli A et al.

Cancer Research, 2023

37129948 (PubMed )
Supplement: can-22-2620_supplementary_table_s2_suppst2.pdf

Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.

Mauri G et al.

World Journal of Surgical Oncology, 2023

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Matta BP et al.

Scientific Reports, 2022

36329109 (PubMed )
Supplement: 41598_2022_23012_MOESM2_ESM.xlsx › Supplementary_Table_S2_

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

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

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2

Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Yao Q et al.

Frontiers in Oncology, 2022

35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes

FoundationOne® CDx gene profiling in Japanese pancreatic ductal adenocarcinoma patients: a single-institution experience.

Kimura R et al.

Surgery Today, 2021

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.

Turashvili G et al.

Cancers, 2020

33233347 (PubMed )
Supplement: cancers-12-03468-s001.zip › suppl › Supplementary_Table_S1_final.xlsx › Sheet1

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

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

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

Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.

Paul MR et al.

The Journal of Clinical Investigation, 2020

Molecular profile of BRCA-mutated biliary tract cancers.

Spizzo G et al.

Esmo Open, 2020

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

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

The Quest for Improving Treatment of Cancer of Unknown Primary (CUP) Through Molecularly-Driven Treatments: A Systematic Review.

Lombardo R et al.

Frontiers in Oncology, 2020

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

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1

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

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 17

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Wen WX et al.

Journal of Medical Genetics, 2018

28993434 (PubMed )
Supplement: jmedgenet-2017-104947supp001.pdf

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.

Gabaldó Barrios X et al.

Familial Cancer, 2017

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

Next generation sequencing of carcinoma of unknown primary reveals novel combinatorial strategies in a heterogeneous mutational landscape.

Subbiah IM et al.

Oncoscience, 2017

NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.

Endris V et al.

Virchows Archiv : an International Journal of Pathology, 2016

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

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report.

Okubo K et al.

Case Reports in Oncology, 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."