Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I1859fs
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BRCA2

NM_000059.4:p.I1859fs

Associated Papers

Genomic landscape and clinical impact of BRCA1/2 pathogenic variants in metastatic castration-resistant prostate cancer.

Iida K et al.

Npj Precision Oncology, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s3_hyaf181.xlsx › Supplemental_Table_3

Establishment and characterization of 24 breast cancer cell lines and 3 breast cancer organoids reveals molecular heterogeneity and drug response variability in malignant pleural effusion-derived models.

Kim SC et al.

Breast Cancer Research : Bcr, 2025

40312397 (PubMed )
Supplement: 13058_2025_2032_MOESM6_ESM.xlsx › Supplementary_Table_3A

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

Real-world efficacy and toxicity of olaparib maintenance therapy in Korean ovarian cancer patients with an exploratory analysis of BRCA mutations.

Kim J et al.

Gynecologic Oncology, 2025

Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital.

Kim JW et al.

Scientific Reports, 2025

Clinically Significant BRCA1 and BRCA2 Germline Variants in Breast Cancer-A Single-Center Experience.

Pleșea RM et al.

Cancers, 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

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

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

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

Association between BRCA Gene Variants and the Response to Modified FOLFIRINOX in Patients with Unresectable Pancreatic Cancer.

Horiguchi S et al.

Acta Medica Okayama, 2023

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

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.

Mori T et al.

Cancer Medicine, 2023

36345163 (PubMed )
Supplement: CAM4-12-6594-s002.xlsx › Supp_Table1

Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.

Abdallah N et al.

Cancer Causes & Control : Ccc, 2023

Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.

Subaşıoğlu A et al.

European Journal of Breast Health, 2023

Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer.

Kimura H et al.

British Journal of Cancer, 2022

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-s005.pdf

Successful case of olaparib treatment for castration-resistant prostate cancer with multiple DNA repair gene mutations: Use of comprehensive genome profiling for treatment-refractory cases.

Hirayama Y et al.

Urology Case Reports, 2022

Prevalence of pathogenic germline variants in the circulating tumor DNA testing.

Yamamoto Y et al.

International Journal of Clinical Oncology, 2022

Clinical Application of Next-Generation Sequencing in Patients With Breast Cancer: Real-World Data.

Suh KJ et al.

Journal of Breast Cancer, 2022

Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling.

Kondo T et al.

International Journal of Clinical Oncology, 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

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.

Lee J et al.

Scientific Reports, 2022

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Akamatsu S et al.

Jnci Cancer Spectrum, 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

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

Clinical and pathological outcomes of risk-reducing salpingo-oophorectomy for Japanese women with hereditary breast and ovarian cancer.

Nomura H et al.

International Journal of Clinical Oncology, 2021

Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Paik ES et al.

Cancer Science, 2021

Comprehensive genomic profiling for patients with chemotherapy-naïve advanced cancer.

Kondo T et al.

Cancer Science, 2021

33007138 (PubMed )
Supplement: CAS-112-296-s002.xlsx › Sheet1

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Five Italian Families with Two Mutations in BRCA Genes.

Vietri MT et al.

Genes, 2020

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

Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).

El Ansari FZ et al.

Bmc Cancer, 2020

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

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

Variant analysis of prostate cancer in Japanese patients and a new attempt to predict related biological pathways.

Kasajima R et al.

Oncology Reports, 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

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Mori M et al.

Haematologica, 2019

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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."