Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-024-01705-9
Abstract: Breast cancer remains a significant global health challenge. In Australia, the adoption of publicly-funded multigene panel testing for eligible cancer patients has increased accessibility to personalised care, yet has also highlighted the increasing prevalence of… read more here.
Keywords: cancer; actionability breast; breast cancer; review ... See more keywords
PATH-61. Decoding Diagnostic Uncertainty for Tumor Predisposition Conditions: RNA Testing of Variants of Uncertain Significance in Neurofibromatosis
Sign Up to like & getrecommendations! Published in 2025 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaf201.1013
Abstract: The neurofibromatoses are classified as neurofibromatosis type 1 (NF1) or schwannomatosis (SWN). NF1 is caused by pathogenic variants in the NF1 gene; SWN is associated with variants in NF2, SMARCB1, LZTR1 or other yet undiscovered… read more here.
Keywords: variants uncertain; rna; uncertain significance; rna analysis ... See more keywords
Update on |Vus| and |Vus/Vud| from semileptonic kaon and pion decays
Sign Up to like & getrecommendations! Published in 2022 at "Physical Review D"
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
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
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
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2024-110122
Abstract: Background The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we describe the outcomes of multidisciplinary VUS Rounds,… read more here.
Keywords: tertiary care; care centre; care; significance vus ... See more keywords
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Cancer Research"
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
Molecular Characterization of Vascular Transformation of Lymph Node Sinuses via Oncomine Comprehensive Assay
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Surgical Pathology"
DOI: 10.1177/10668969251314122
Abstract: Vascular transformation of lymph node sinuses (VTSs) is defined as phenotypic transformation of the lymph node sinusoidal lining from lymphatic to vascular endothelium. The pathogenesis of VTS remains unclear. Thus far, VTS has not been… read more here.
Keywords: vus; lymph node; lymph; transformation lymph ... See more keywords
Neonatal Encephalopathy
Sign Up to like & getrecommendations! Published in 2025 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200232
Abstract: Background and Objectives Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1–6/1,000 live term newborns. We applied genome sequencing (GS) in term… read more here.
Keywords: characterization; neonatal encephalopathy; protein modeling; term newborns ... See more keywords
The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Management and Research"
DOI: 10.2147/cmar.s551118
Abstract: Introduction The evolution of genetic sequencing technologies in Hereditary Breast and Ovarian Cancer (HBOC) from BRCA1/2 analysis to multigene panel sequencing was paralleled with a significant increase in the number of detected variants of uncertain… read more here.
Keywords: hereditary breast; cancer; breast; breast ovarian ... 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 variants of uncertain significance by race, ethnicity, and ancestry for patients at risk for breast cancer
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2025.1455509
Abstract: Introduction Although most variants of uncertain significance (VUS) in breast cancer susceptibility genes are eventually downgraded to benign or likely benign in individuals of European ancestry, it is unclear if this also applies to non-European… read more here.
Keywords: ancestry; breast cancer; reclassification; vus ... See more keywords