Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1511fs
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BRCA2

NM_000059.4:p.E1511fs

Associated Papers

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L et al.

Journal of the National Cancer Institute, 2024

38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S2

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD et al.

Human Mutation, 2017

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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."