Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E836delFs
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BRCA1

NM_007294.4:p.E836delFs

Associated Papers

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tumor-agnostic phase II study.

Joris S et al.

Esmo Open, 2023

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

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_

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

Solano AR et al.

Oncotarget, 2017

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 BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

De Leeneer K et al.

Breast Cancer Research and Treatment, 2012

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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."