Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K654delFs
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BRCA1

NM_007294.4:p.K654delFs

Associated Papers

Whole-genome landscapes of 1,364 breast cancers.

Kim R et al.

Nature, 2026

41339552 (PubMed )
Supplement: 41586_2025_9812_MOESM3_ESM.xlsx › ST2

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

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

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

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

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

From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.

Roy S et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.

Ganesan A et al.

Scientific Reports, 2025

40595931 (PubMed )
Supplement: 41598_2025_4827_MOESM3_ESM.xlsx › Patient__7

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

Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.

Guan X et al.

Bmc Cancer, 2025

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s011.xlsx › gBRCA___

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

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

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

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

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

Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.

Salazar Saez R et al.

Hereditary Cancer in Clinical Practice, 2024

WES-based screening of 7,000 newborns: A pilot study in Russia.

Shubina J et al.

Hgg Advances, 2024

39033325 (PubMed )
Supplement: mmc3.xlsx › Table_S2

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

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_S1_-_Patients_and_PDX

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

Analytical and Clinical Validation of a Highly Sensitive NGS-Based ctDNA Assay with Real-World Concordance in Non-Small Cell Lung Cancer.

Yi H et al.

Cancer Research and Treatment, 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 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_MOESM6_ESM.xlsx › BRCA1

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › BRCA1

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

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

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

Wang Y et al.

Bmc Medicine, 2024

38191387 (PubMed )
Supplement: 12916_2023_3233_MOESM3_ESM.docx

Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.

Sokolenko AP et al.

Breast Cancer Research and Treatment, 2024

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.

Lechner A et al.

Frontiers in Oncology, 2024

38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Microsatellite instability and somatic gene variant profile in solid organ tumors.

Erdogdu IH et al.

Archives of Medical Science : Ams, 2024

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Youssef ASE et al.

Clinical and Experimental Medicine, 2023

Differential Sensitivity of Germline and Somatic BRCA Variants to PARP Inhibitor in High-Grade Serous Ovarian Cancer.

Vendrell JA et al.

International Journal of Molecular Sciences, 2023

37762485 (PubMed )
Supplement: ijms-24-14181-s001.zip › Table_S2.xlsx › Supplementary_Table_2

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

Nesic K et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.

Kałużewski T et al.

International Journal of Molecular Sciences, 2023

Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.

Tsyganov MM et al.

Genes, 2023

Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.

Schwartz M et al.

Clinical Genetics, 2023

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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."