Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1219*
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BRCA1

NM_007294.4:p.E1219*

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

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S3

BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

Kim DH et al.

Journal of Gynecologic Oncology, 2018

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Lowery MA et al.

Journal of the National Cancer Institute, 2018

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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."