Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1053D
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BRCA1

NM_007294.4:p.E1053D

Associated Papers

Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.

Zhang C et al.

Journal of Medical Genetics, 2023

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Yin L et al.

Jama Network Open, 2022

35171259 (PubMed )
Supplement: jamanetwopen-e2148721-s001.pdf

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM5_ESM.xlsx › Bulk

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis
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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."