Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.F2058delFs
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BRCA2

NM_000059.4:p.F2058delFs

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

Research Progress on BRCA1/2 Mutations in Sporadic Gastric Cancer: Risk Stratification, Surgical Prognosis, and Individualized Treatment.

Chen M et al.

Annali Italiani Di Chirurgia, 2026

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Hereditary ovarian cancer.

Jurgiel WA et al.

Discover Oncology, 2026

Imaging Surveillance and Risk-Based Management of Known Genetic Mutations in Breast Cancer: A Radiologist's Guide.

Daraghma M et al.

Journal of Breast Imaging, 2025

Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.

Zucker R et al.

Cancers, 2025

A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription.

Minello A et al.

Nature Communications, 2025

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Genetics and context for precision health in Greater Boston.

Koyama S et al.

Nature Communications, 2025

Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.

Bodunova N et al.

Bmc Women's Health, 2025

Circulating Tumor DNA as a Biomarker for Precision Medicine in Prostate Cancer: A Systematic Review.

Chanhih N et al.

International Journal of Molecular Sciences, 2025

41303533 (PubMed )
Supplement: ijms-26-11049-s001.zip › Supp_M_Table_S7.pdf

Breast biopsies and breast cancer risk in Israeli BRCA germline pathogenic variant carriers.

Madorsky Feldman D et al.

Breast Cancer Research and Treatment, 2025

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

Predicting pathogenic DNA damage repair gene mutations in prostate cancer patients: a multi-center magnetic resonance imaging radiomics study.

Chen Y et al.

Quantitative Imaging in Medicine and Surgery, 2025

40727372 (PubMed )
Supplement: qims-15-07-5991-supplementary.pdf

Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.

Vatsyayan A et al.

Cancer Causes & Control : Ccc, 2025

Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.

Perletti G et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

BRCA1 and BRCA2 in DNA damage and replication stress response: Insights into their functions, mechanisms, and implications for cancer treatment.

Xu Z et al.

Dna Repair, 2025

CA125 Serum Levels in BRCA1/BRCA2 Pathogenic Sequence Variant Carriers as an Ovarian Cancer Screening Tool: A Longitudinal Study.

Madorsky Feldman D et al.

The Israel Medical Association Journal : Imaj, 2025

Large-Scale Population Screening for BRCA1 and BRCA2 Ashkenazi Founder Mutations: Perspectives of Professionals Providing Oncogenetic Consultations.

Furman Y et al.

Breast Care (basel, Switzerland), 2025

Association between single nucleotide polymorphisms of DNA repair genes (BRCA1, BRCA2, and PALB2) and breast cancer incidence in a subset of Iranian population.

Jahangiri S et al.

Hereditary Cancer in Clinical Practice, 2025

Presymptomatic Awareness of BRCA1/BRCA2 Status and Outcomes in Women With Ovarian Cancer.

Armon S et al.

Jama Network Open, 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM5_ESM.pdf

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).

Torr B et al.

Journal of Medical Genetics, 2025

Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.

Jahangiri S et al.

Breast Cancer Research and Treatment, 2025

Comparison of outcomes of neoadjuvant chemotherapy in BRCA1- versus BRCA2-associated breast and ovarian cancers.

Sokolenko A et al.

Exploration of Targeted Anti-tumor Therapy, 2025

40547808 (PubMed )
Supplement: 1002325_sup_1.xlsx › Table_S2

Case Report: Clinical impact of BRCA1 and BRIP1 vs. BRCA1 and BRCA2 germline double heterozygosity in ovarian cancer: a comparative case study.

Zheng L et al.

Frontiers in Oncology, 2025

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › B

CldU sensitizes BRCA2 reverse-mutated cells to PARP inhibitors.

Zouggari N et al.

Frontiers in Oncology, 2025

Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.

Sarmadi A et al.

Advanced Biomedical Research, 2025

Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.

Laitman Y et al.

Breast Cancer Research and Treatment, 2024

BRCA1/2 Mutations and Breast/Ovarian Cancer Risk: A New Insights Review.

Pourmasoumi P et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

Kerr SM et al.

European Journal of Human Genetics : Ejhg, 2024

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.

Chen F et al.

Npj Digital Medicine, 2024

39572625 (PubMed )
Supplement: 41746_2024_1331_MOESM2_ESM.xlsx › Supplementary_Data_6

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population.

Akamandisa MP et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

The Pivotal Role of Germline BRCA2 Pathogenic Variants in "Apparently Sporadic" Pancreatic Cancer.

Brody JR et al.

Cancer Research, 2024

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

39226054 (PubMed )
Supplement: jamanetwopen-e2431427-s001.pdf

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.

Yadav S et al.

Cold Spring Harbor Perspectives in Medicine, 2024

Germline Testing Identifies Pathogenic/Likely Pathogenic Variants in Patients with Pancreatic Neuroendocrine Tumors.

Mohindroo C et al.

Cancer Prevention Research (philadelphia, Pa.), 2024

Public neoantigens in breast cancer immunotherapy (Review).

Sueangoen N et al.

International Journal of Molecular Medicine, 2024

A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.

Gervas P et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.

Makhetha M et al.

Journal of Genetic Counseling, 2024

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience.

Bufman H et al.

Breast Cancer Research and Treatment, 2024

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Orlic-Milacic M et al.

Database : the Journal of Biological Databases and Curation, 2024

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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."