Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.M1K
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BRCA2

NM_000059.4:p.M1K

Associated Papers

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

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

Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.

Spugnesi L et al.

Genes, Chromosomes & Cancer, 2016

Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

Tea MK et al.

Maturitas, 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."