Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H1006fs
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BRCA1

NM_007294.4:p.H1006fs

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12

Comprehensive Genomic Profiling in Predictive Testing of Cancer.

Svoboda M et al.

Physiological Research, 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

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-s010.xlsx › MNS_only

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

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

Complete pathological response to olaparib and bevacizumab in advanced cervical cancer following chemoradiation in a BRCA1 mutation carrier: a case report.

Montero-Macias R et al.

Journal of Medical Case Reports, 2021

Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.

Butz H et al.

Cancers, 2021

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

Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.

Gornjec A et al.

Bmc Cancer, 2019

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.

Germani A et al.

Oncotarget, 2018

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI et al.

Scientific Reports, 2018

29907814 (PubMed )
Supplement: 41598_2018_27315_MOESM1_ESM.xlsx › Sup_Table_S1_-_BRCA1

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.

Hahnen E et al.

Jama Oncology, 2017

Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.

Cvelbar M et al.

Radiology and Oncology, 2017

Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer.

Muendlein A et al.

Journal of Cancer Research and Clinical Oncology, 2015

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L et al.

European Journal of Human Genetics : Ejhg, 2014

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

Novaković S et al.

International Journal of Oncology, 2012

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