Associated Papers
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
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40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
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Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
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Next-Generation Sequencing Identifies BRCA1 and/or BRCA2 Mutations in Women at High Hereditary Risk for Breast Cancer with Shorter Telomere Length.
Peker Eyüboğlu İ et al.
Omics : a Journal of Integrative Biology, 2020
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Zuntini R et al.
Frontiers in Genetics, 2018
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