Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1794_L1795insFs
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BRCA1

NM_007294.4:p.E1794_L1795insFs

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

Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis.

Houlahan KE et al.

Ebiomedicine, 2026

41724111 (PubMed )
Supplement: mmc6.xlsx › Sheet2

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

Kulikowska B et al.

Cancers, 2026

Long-term exposure to the ethanol-derived metabolite acetaldehyde elevates structural genomic alterations but not base substitutions.

Lózsa R et al.

Communications Biology, 2026

Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.

Samigatova A et al.

Scientific Reports, 2026

Hereditary ovarian cancer.

Jurgiel WA et al.

Discover Oncology, 2026

Tumor cell intrinsic dsRNA innate immune response triggered by PARP inhibitor is compromised in BRCA1 deficient breast cancer by repressing IRF3.

Zhang C et al.

Protein & Cell, 2026

Insights from three decades of BRCA1/2 modeling in mice.

Darnold JS et al.

Nature Genetics, 2026

Germline BRCA1/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation.

Skoczylas S et al.

Current Oncology (toronto, Ont.), 2025

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

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

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

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

Single-cell RNA sequencing reveals age-related heterogeneity in the tumor microenvironment of breast cancer patients.

Li Z et al.

Scientific Reports, 2025

41266463 (PubMed )
Supplement: 41598_2025_24720_MOESM1_ESM.xlsx › Sheet1

Functional characterization of BRCA1 variants of unknown significance using homologous recombination repair assays.

Martín-Bejarano P et al.

Breast Cancer Research : Bcr, 2025

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

Madorsky Feldman D et al.

Breast Cancer Research and Treatment, 2025

Medullary breast cancer and germline BRCA1 mutations: a possible criterion for genetic testing.

Apostol AI et al.

Hereditary Cancer in Clinical Practice, 2025

Genetic testing for BRCA1/2 variants in Northern African women with ovarian and breast cancers: a multicentre study of an under-represented ancestry.

Shohdy KS et al.

Esmo Open, 2025

A Case Report of Synchronous Multicentric Breast Carcinoma With Biologically Discordant Phenotypes: Luminal A and Triple-Negative Subtypes.

Gmur MK et al.

Cureus, 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

5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.

Sokolenko AP et al.

Familial Cancer, 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

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

Armon S et al.

Jama Network Open, 2025

Decoding the functional impact of the cancer genome through protein-protein interactions.

Fu H et al.

Nature Reviews. Cancer, 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

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_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

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

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

Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.

Lila K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 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

Deletions Rate-Limit Breast and Ovarian Cancer Initiation.

Houlahan KE et al.

Biorxiv : the Preprint Server for Biology, 2024

39484366 (PubMed )
Supplement: media-4.xlsx › Sheet2

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 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

Long-Term Survival in BRCA1 Mutant Advanced Ovarian Cancer: Unveiling the Impact of Olaparib.

Afrăsânie VA et al.

Diagnostics (basel, Switzerland), 2024

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

1–50 of 1515 papers
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