Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E720*
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BRCA1

NM_007294.4:p.E720*

Associated Papers

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.

Deugd R et al.

Diseases (basel, Switzerland), 2025

40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf

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

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

Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel.

Glodzik D et al.

The Journal of Molecular Diagnostics : Jmd, 2023

POLE exonuclease domain mutations in endometrial carcinoma: a case report.

Pasciuto MP et al.

Pathologica, 2023

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Chinese

Identification of Shared Neoantigens in BRCA1-Related Breast Cancer.

Ruangapirom L et al.

Vaccines, 2022

36298462 (PubMed )
Supplement: vaccines-10-01597-s001.zip › vaccines-1858387-supplementary.pdf

RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

Liu P et al.

The Journal of Biological Chemistry, 2022

35952757 (PubMed )
Supplement: mmc3.xls › BRCA1

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.

Elalaoui SC et al.

Breast Cancer Research and Treatment, 2022

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Momozawa Y et al.

Jama Oncology, 2022

35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.

Karagiannakos A et al.

Cancers, 2022

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Bonazzi VF et al.

Genome Medicine, 2022

35012638 (PubMed )
Supplement: 13073_2021_990_MOESM2_ESM.xlsx › Supp_Table_6

Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.

Bernstein-Molho R et al.

Cancer, 2021

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.

Xu Z et al.

Hereditary Cancer in Clinical Practice, 2021

Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Scholl SM et al.

Ebiomedicine, 2020

33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Momozawa_et_al.

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.

Thutkawkorapin J et al.

Bmc Bioinformatics, 2020

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Pasculli B et al.

Frontiers in Oncology, 2020

32903519 (PubMed )
Supplement: Table_1.xlsx › Supplemental_Table_7_

Revealing tumor heterogeneity of breast cancer by utilizing the linkage between somatic and germline mutations.

Zou M et al.

Briefings in Bioinformatics, 2019

30239581 (PubMed )
Supplement: bby084_supp.zip › Supplementary_Table_3.xlsx › Driver_SNVs

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

Vascular endothelium function among male carriers of BRCA 1&2 germline mutation.

Witberg G et al.

Oncotarget, 2019

31489114 (PubMed )
Supplement: oncotarget-10-5041-s001.pdf

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients.

Hu X et al.

Cancer Biology & Medicine, 2019

Comparative oncogenomics identifies combinations of driver genes and drug targets in BRCA1-mutated breast cancer.

Annunziato S et al.

Nature Communications, 2019

30674894 (PubMed )
Supplement: 41467_2019_8301_MOESM1_ESM.pdf

BRCA mutation screening and patterns among high-risk Lebanese subjects.

Farra C et al.

Hereditary Cancer in Clinical Practice, 2019

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2018

Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia.

Briceño-Balcázar I et al.

Colombia Medica (cali, Colombia), 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Effect of BRCA1 and XPG mutations on treatment response to trabectedin and pegylated liposomal doxorubicin in patients with advanced ovarian cancer: exploratory analysis of the phase 3 OVA-301 study.

Monk BJ et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015

BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.

El Saghir NS et al.

The Oncologist, 2015

Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.

Laitman Y et al.

Breast Cancer Research and Treatment, 2011

Mutation analysis of BRCA1, TP53, and KRAS2 in ovarian and related pelvic tumors.

Tworek H et al.

Cancer Genetics and Cytogenetics, 1999

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