Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E23fs
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BRCA1

NM_007294.4:p.E23fs

Associated Papers

Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.

Farncombe KM et al.

European Journal of Human Genetics : Ejhg, 2026

Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.

Kang B et al.

International Journal of Molecular Sciences, 2026

41683736 (PubMed )
Supplement: ijms-27-01305-s001.zip › ijms-4056495-supplementary.pdf

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

Lózsa R et al.

Communications Biology, 2026

41545634 (PubMed )
Supplement: 42003_2026_9521_MOESM3_ESM.xlsx › Target_mutations

Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.

Khurana S et al.

Cancers, 2026

Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.

Bujassoum Al-Bader S et al.

Molecular Genetics & Genomic Medicine, 2026

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

Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.

Jiang Z et al.

Future Science Oa, 2025

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 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

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations

Determinants of long-term response to patritumab deruxtecan in breast cancer patient-derived xenografts.

Òdena A et al.

Npj Precision Oncology, 2025

41272064 (PubMed )
Supplement: 41698_2025_1172_MOESM1_ESM.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

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

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

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

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

Alvero AB et al.

Gynecologic Oncology, 2025

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.

Feszak S et al.

Cancers, 2025

Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.

Sinan H et al.

Jco Precision Oncology, 2025

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

Torr B et al.

Journal of Medical Genetics, 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

Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.

Moukadem HA et al.

World Journal of Clinical Oncology, 2024

BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.

Al Amri WS et al.

The Oncologist, 2024

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L et al.

Journal of the National Cancer Institute, 2024

38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S1

High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.

Shumilova S et al.

International Journal of Molecular Sciences, 2024

39684352 (PubMed )
Supplement: ijms-25-12640-s001.zip › Supplementary › Table_S2._PLP_genetic_variants_found_in_patients_with_breast_cancer.xlsx › table_S2

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s022.xlsx › Sheet_1

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 PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM2_ESM.xlsx › Table_S2

Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.

Bernstein-Molho R et al.

Cancer, 2024

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P4-dominant

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

Public neoantigens in breast cancer immunotherapy (Review).

Sueangoen N et al.

International Journal of Molecular Medicine, 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

Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.

Godinez Paredes JM et al.

Breast Cancer Research and Treatment, 2024

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM3_ESM.xlsx › Sheet1

Niraparib for the Treatment of Metastatic NSCLC in a Patient With BRCA2 Germinal Mutation: A Case Report.

Inno A et al.

Clinical Lung Cancer, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_6

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

National Rapid Genome Sequencing in Neonatal Intensive Care.

Marom D et al.

Jama Network Open, 2024

38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2

Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.

Rosner G et al.

Clinical and Translational Gastroenterology, 2024

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 › Fig3A_CRC_data
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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."