Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S694delFs
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BRCA1

NM_007294.4:p.S694delFs

Associated Papers

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

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_S2

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

Chromosomal copy number and mutational status are required to authenticate ovarian cancer cell lines as appropriate cell models.

Stordal B et al.

Molecular Biology Reports, 2024

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

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

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G et al.

Oncotarget, 2023

Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.

Savkova A et al.

International Journal of Molecular Sciences, 2023

A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia.

Kechin A et al.

Breast Cancer Research and Treatment, 2023

Genetic and clinical characteristics of BRCA-associated hereditary breast cancer in the West region of Kazakhstan.

Aitmagambetova MA et al.

Carcinogenesis, 2022

A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.

Majidzadeh-A K et al.

Familial Cancer, 2022

Synergistic targeting of BRCA1 mutated breast cancers with PARP and CDK2 inhibition.

Aziz D et al.

Npj Breast Cancer, 2021

Detection of PIK3CA Gene Mutation in Head and Neck Squamous Cell Carcinoma Using Droplet Digital PCR and RT-qPCR.

Borkowska EM et al.

Biomolecules, 2021

Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients.

Sokolenko AP et al.

Breast Cancer Research and Treatment, 2020

Molecular profiles of BRCA1-associated ovarian cancer treated by platinum-based therapy: Analysis of primary, residual and relapsed tumors.

Sokolenko AP et al.

International Journal of Cancer, 2020

Spectrum of TP53 Mutations in BRCA1/2 Associated High-Grade Serous Ovarian Cancer.

Boyarskikh UA et al.

Frontiers in Oncology, 2020

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

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Urbina-Jara LK et al.

Genes, 2019

New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.

Gervas P et al.

Molecular Biology Reports, 2019

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Brovkina OI et al.

Frontiers in Oncology, 2018

Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Buleje J et al.

Molecular Genetics & Genomic Medicine, 2017

Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.

Ossa CA et al.

The Oncologist, 2016

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.

Wang Y et al.

Cancer Research, 2016

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J et al.

Breast Cancer Research and Treatment, 2015

26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

Abugattas J et al.

Clinical Genetics, 2015

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2015

Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience.

Ermolenko NA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Silva FC et al.

Bmc Medical Genetics, 2014

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

Pennington KP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

[Effectiveness of platinum-based chemotherapy in ovarian cancer patients with BRCA1/2 mutations].

Gorodnova TV et al.

Voprosy Onkologii, 2014

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.

Drüsedau M et al.

European Journal of Human Genetics : Ejhg, 2013

BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Stordal B et al.

Molecular Oncology, 2013

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

[The frequency and spectrum of KRAS mutations in metastatic colorectal cancer].

Mazurenko NN et al.

Voprosy Onkologii, 2013

Combining a PI3K inhibitor with a PARP inhibitor provides an effective therapy for BRCA1-related breast cancer.

Juvekar A et al.

Cancer Discovery, 2012

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Heidemann S et al.

Breast Cancer Research and Treatment, 2012

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2012

Two patients with germline mutations in both BRCA1 and BRCA2 discovered unintentionally: a case series and discussion of BRCA testing modalities.

Augustyn AM et al.

Breast Cancer Research and Treatment, 2011

Family history, BRCA mutations and breast cancer in Vietnamese women.

Ginsburg OM et al.

Clinical Genetics, 2011

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes.

de Juan Jiménez I et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Non-founder BRCA1 mutations in Russian breast cancer patients.

Iyevleva AG et al.

Cancer Letters, 2010

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Diez O et al.

Familial Cancer, 2010

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.

Esteban Cardeñosa E et al.

Breast Cancer Research and Treatment, 2010

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations.

de Juan I et al.

Breast Cancer Research and Treatment, 2009

Age-dependent penetrance of different germline mutations in the BRCA1 gene.

Al-Mulla F et al.

Journal of Clinical Pathology, 2009

[Analysis of polymorphisms in genes of insulin receptor substrate-1 and enzymes involved in estrogen biosynthesis and metabolism among breast cancer patients with BRCA1 mutations].

Bershteĭn LM et al.

Voprosy Onkologii, 2009

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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."