Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1345delFs
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BRCA1

NM_007294.4:p.E1345delFs

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

Semi-Quantitative Evaluation of BRCA1 Protein in Breast Tumors Using Anti-BRCA1 Antibodies: Clinical Implications.

Anton SC et al.

International Journal of Molecular Sciences, 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

Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers.

Uttarilli A et al.

Discover Oncology, 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

The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1.

Kotsopoulos J et al.

Current Oncology (toronto, Ont.), 2025

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

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

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_S1.xlsx › Table_S1

The difference in contralateral breast cancer and ovarian cancer risks for BRCA1 founder variant (c.5266dup, c.4035del) carriers with primary breast cancer.

Loza P et al.

Bmc Cancer, 2025

Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.

Buckley KH et al.

Biorxiv : the Preprint Server for Biology, 2025

41256354 (PubMed )
Supplement: NIHPP2025.10.01.679809V1-supplement-1.pdf

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S11

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

Schubart C et al.

International Journal of Cancer, 2025

40278800 (PubMed )
Supplement: IJC-157-964-s002.xlsx › Tabelle1

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

Gmur MK et al.

Cureus, 2025

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

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

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.

Trinh MN et al.

The Oncologist, 2025

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28

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

Feszak S et al.

Cancers, 2025

Paired Comparison of Whole Genome Sequencing and Comprehensive Targeted Sequencing of Pancreatic Cancer Tissue.

Hvidtfeldt TA et al.

Anticancer Research, 2025

Significantly increased load of hereditary cancer-linked germline variants in infertile men.

Valkna A et al.

Human Reproduction Open, 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_S1

Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer.

Kjeldsen MK et al.

Cancer Research Communications, 2024

39591206 (PubMed )
Supplement: crc-24-0294_supplementarygenetable_s1_suppst1.xlsx › SupplementaryGeneTableS1

Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.

Morgan RD et al.

British Journal of Cancer, 2024

39550490 (PubMed )
Supplement: 41416_2024_2874_MOESM10_ESM.xlsx › Supplementary_Table_S2

Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.

Williams MJ et al.

Nature Genetics, 2024

39567747 (PubMed )
Supplement: 41588_2024_1988_MOESM4_ESM.xlsx › TableS1

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

PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.

Miao R et al.

Cancers, 2024

39456541 (PubMed )
Supplement: cancers-16-03447-s001.zip › cancers-3211805-supplementary.pdf

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.NON-SNP_all_variants

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

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

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.

Nesic K et al.

Molecular Cancer, 2024

39103848 (PubMed )
Supplement: 12943_2024_2048_MOESM1_ESM.xlsx › Table_S8_-_ARIEL2_4_patient

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

Antioxidant Properties of Zinc and Copper-Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers.

Matuszczak M et al.

Antioxidants (basel, Switzerland), 2024

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

Hinić S et al.

Jnci Cancer Spectrum, 2024

38848470 (PubMed )
Supplement: pkae044_supplementary_data.zip › JNCICS-24-0030R1_Supplementary_Table1_20.3.xlsx › Supplemental_Table_1

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 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

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1
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