Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E638delFs
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BRCA1

NM_007294.4:p.E638delFs

Associated Papers

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

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

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

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 › Latino_only

Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina

Martin CA et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2022

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

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S2_PVs__n_236_

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

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-s006.xlsx › BRCA1_ethnic_source_

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI et al.

Scientific Reports, 2018

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.

Gabaldó Barrios X et al.

Familial Cancer, 2017

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC et al.

European Journal of Human Genetics : Ejhg, 2017

28145423 (PubMed )
Supplement: ejhg2016203x2.xls › Genotype_Phenotype_data

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

Fernandes GC et al.

Oncotarget, 2016

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