Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1253fs
Back to variants list

BRCA1

NM_007294.4:p.S1253fs

Associated Papers

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

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

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

Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.

Elmetnawy W et al.

Scientific Reports, 2025

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

Guan X et al.

Bmc Cancer, 2025

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

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

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

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.pdf

Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) Trial in Acquired PARP Inhibitor-Resistant Homologous Recombination-Deficient Ovarian Cancer.

Wethington SL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.

Yanus GA et al.

Familial Cancer, 2023

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM14_ESM.xlsx › TCGAOvarian_gBRCA

Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.

Garcia-Casado Z et al.

Journal of Personalized Medicine, 2022

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Hakkaart C et al.

Communications Biology, 2022

36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

35753294 (PubMed )
Supplement: mmc1.pdf

Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

Silver A et al.

Journal of Personalized Medicine, 2022

35629091 (PubMed )
Supplement: jpm-12-00667-s001.zip › jpm-1646052-supplementary.xlsx › Table_S1__Samples_

Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.

Ogrodniczak A et al.

Hereditary Cancer in Clinical Practice, 2022

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Hauke J et al.

Journal of Medical Genetics, 2022

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Ren M et al.

Breast Cancer Research and Treatment, 2021

34196900 (PubMed )
Supplement: 10549_2021_6305_MOESM1_ESM.xlsx › Supplemental_Table_3

Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21).

Artioli G et al.

Gynecologic Oncology, 2021

New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.

Gervas P et al.

Experimental Oncology, 2021

Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.

Łukomska A et al.

Cancers, 2021

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Five Italian Families with Two Mutations in BRCA Genes.

Vietri MT et al.

Genes, 2020

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.

Paul MR et al.

The Journal of Clinical Investigation, 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 › GCC

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C et al.

Cancers, 2020

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS et al.

Genome Medicine, 2019

31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.pdf

Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.

Deng H et al.

Molecular Genetics & Genomic Medicine, 2019

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN et al.

Nature Communications, 2017

28831036 (PubMed )
Supplement: 41467_2017_388_MOESM1_ESM.pdf

Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.

Dougherty BA et al.

Oncotarget, 2017

28525389 (PubMed )
Supplement: oncotarget-08-43653-s002.docx

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.

Plaskocinska I et al.

Journal of Medical Genetics, 2016

27208206 (PubMed )
Supplement: jmedgenet-2016-103902supp.pdf

NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.

Endris V et al.

Virchows Archiv : an International Journal of Pathology, 2016

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.

Vasan N et al.

The Oncologist, 2014

1–50 of 54 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."