Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1943fs
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BRCA2

NM_000059.4:p.S1943fs

Associated Papers

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

DeRoin L et al.

Human Mutation, 2022

35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.

Singhal D et al.

Leukemia, 2021

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Lincoln SE et al.

Jama Network Open, 2020

33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."