Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E648*
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BRCA1

NM_007294.4:p.E648*

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Massari G et al.

Cancers, 2021

Comparative oncogenomics identifies combinations of driver genes and drug targets in BRCA1-mutated breast cancer.

Annunziato S et al.

Nature Communications, 2019

30674894 (PubMed )
Supplement: 41467_2019_8301_MOESM1_ESM.pdf

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

Corso G et al.

Journal of Medical Genetics, 2018

CDH1 germline mutations and hereditary lobular breast cancer.

Corso G et al.

Familial Cancer, 2016

Germline CDH1 mutations in bilateral lobular carcinoma in situ.

Petridis C et al.

British Journal of Cancer, 2014

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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."