Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients

O Ceyhan-Birsoy, G Jayakumaran, Y Kemel… - Genome Medicine, 2022 - Springer
Background Genetic testing (GT) for hereditary cancer predisposition is traditionally
performed on selected genes based on established guidelines for each cancer type …

Uncertainty in healthcare and health decision making: Five methodological and conceptual research recommendations from an interdisciplinary team

N Simonovic, JM Taber, CL Scherr, M Dean… - Journal of Behavioral …, 2023 - Springer
Uncertainty is prevalent in various health contexts. It is imperative to understand how health-
related uncertainty can impact individuals' healthcare experiences and health decision …

Racial and ethnic disparities in germline genetic testing of patients with young-onset colorectal cancer

P Dharwadkar, G Greenan, EM Stoffel… - Clinical …, 2022 - Elsevier
Background & Aims Up to 20% of younger patients (age< 50 years) diagnosed with
colorectal cancer (CRC) have germline mutations in cancer susceptibility genes. Germline …

[HTML][HTML] The impact of communicating uncertain test results in cancer genetic counseling: A systematic mixed studies review

NM Medendorp, PEA van Maarschalkerweerd… - Patient education and …, 2020 - Elsevier
Objective Cancer genetic counseling increasingly involves discussing uncertain test results,
for example because multiple genes are sequenced simultaneously. This review was …

Lynch syndrome limbo: patient understanding of variants of uncertain significance

I Solomon, E Harrington, G Hooker, L Erby… - Journal of Genetic …, 2017 - Springer
Providers and patients encounter challenges related to the management of Variants of
Unknown Significance (VUS). A VUS introduces new counseling dilemmas for the …

Clinical management of patients at risk for hereditary breast cancer with variants of uncertain significance in the era of multigene panel testing

J Chang, S Seng, J Yoo, P Equivel, SS Lum - Annals of surgical oncology, 2019 - Springer
Background Rising use of multigene panel testing has led to increased identification of
variants of uncertain significance (VUS). Consensus guidelines state that clinicians should …

Experiences of patients seeking to participate in variant of uncertain significance reclassification research

S Makhnoon, LT Garrett, W Burke, DJ Bowen… - Journal of community …, 2019 - Springer
Patients' understanding of a genetic variant of unknown clinical significance (VUS) is likely
to influence beliefs about risk implications, consequent medical decisions, and other actions …

How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

A Kwong, CYS Ho, VY Shin, CH Au, TL Chan… - BMC Medical …, 2022 - Springer
Background The popularity of multigene testing increases the probability of identifying
variants of uncertain significance (VUS). While accurate variant interpretation enables …

Understanding variants of uncertain significance in the era of multigene panels: through the eyes of the patient

C Reuter, N Chun, M Pariani… - Journal of Genetic …, 2019 - Wiley Online Library
Variants of uncertain significance (VUSs) are often disclosed to patients despite ambiguous
association with disease risk and lack of clinical actionability. It is important to understand …

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer

K Gunawardena, ND Sirisena, G Anandagoda… - BMC Research …, 2023 - Springer
Abstract Background Next-Generation Sequencing (NGS)-based testing in cancer patients
has led to increased detection of variants of uncertain significance (VUS). VUS are genetic …