Update on |Vus| and |Vus/Vud| from semileptonic kaon and pion decays
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DOI: 10.1103/physrevd.105.013005
Abstract: Implications for Cabibbo universality based on progress in the study of semileptonic kaon and pion decays are discussed. Included are recent updates of experimental input along with improved radiative corrections, form factors and isospin breaking… read more here.
Keywords: vus; vus vud; kaon pion;
Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers
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DOI: 10.1111/bjh.18419
Abstract: Germline pathogenic ATM (ataxia‐telangiectasia mutated) variants are associated with the risk of multiple cancers; however, genetic testing reveals a large number of ATM variants of uncertain significance (VUS). Here, we studied germline ATM variants occurring… read more here.
Keywords: vus; germline atm; atm variants; rare germline ... See more keywords
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay
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DOI: 10.1158/1078-0432.ccr-22-0203
Abstract: Abstract Purpose: The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of… read more here.
Keywords: vus; classification; brca2; acmg amp ... See more keywords
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction
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DOI: 10.3389/fmolb.2020.00169
Abstract: In recent years it has become clear that pathogenic variants in PALB2 are associated with a high risk for breast, ovarian and pancreatic cancer. However, the clinical relevance of variants of uncertain significance (VUS) in… read more here.
Keywords: risk; vus; functional characterization; cancer ... See more keywords
Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers
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DOI: 10.3802/jgo.2020.31.e83
Abstract: Objective We investigated the proportions of and reclassified BRCA1/2 variants of unknown significance (VUS) in Korean patients with epithelial ovarian, tubal, and primary peritoneal cancers. Methods Data from 805 patients who underwent genetic testing for… read more here.
Keywords: benign likely; 805 patients; vus; brca1 ... See more keywords