Panel Testing of BRAF Mutation, RAS Mutation, and RET/PTC Rearrangements or RET Mutation Using Fine‐Needle Aspiration Specimens in Evaluation of Thyroid Carcinoma
Sign Up to like & getrecommendations! Published in 2025 at "Diagnostic Cytopathology"
DOI: 10.1002/dc.25500
Abstract: Thyroid carcinoma (TC) is a common malignancy of the endocrine system. This research investigates the value of multiple gene detection in evaluating the pathological features of TC. read more here.
Keywords: braf mutation; thyroid carcinoma; testing braf; panel testing ... See more keywords
Multi-gene Panel Testing in Breast Cancer Management.
Sign Up to like & getrecommendations! Published in 2018 at "Cancer treatment and research"
DOI: 10.1007/978-3-319-70197-4_8
Abstract: Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the… read more here.
Keywords: multi gene; panel testing; cancer; gene ... See more keywords
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cancer Research and Clinical Oncology"
DOI: 10.1007/s00432-020-03377-6
Abstract: Purpose The aim of this study was to determine the diagnostic yield of multigene panel testing among patients referred with hereditary breast and ovarian cancer (HBOC). Methods Patients who met provincial eligibility criteria were tested… read more here.
Keywords: multigene panel; breast ovarian; panel testing; cancer ... See more keywords
Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms
Sign Up to like & getrecommendations! Published in 2019 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-019-05228-6
Abstract: BackgroundStudies assessing the contribution of non-BRCA1/2 gene mutations to inherited breast cancer (BC) predisposition consistently reported low (up to 4%) yield. The current study aimed at assessing the spectrum of non-BRCA mutations in unselected Israeli… read more here.
Keywords: multigene panel; brca1; breast cancer; panel testing ... See more keywords
Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors’ and counselees’ views
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Community Genetics"
DOI: 10.1007/s12687-018-0393-1
Abstract: Multigene panel testing is mainly used to improve identification of genetic causes in families with characteristics fitting multiple possible cancer syndromes. This technique may yield uncertainty, for example when variants of unknown significance are identified.… read more here.
Keywords: uncertainty; multigene panel; study; panel testing ... See more keywords
Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.04.064
Abstract: PURPOSE Adolescents and young adults with colorectal cancer (CRC) have attracted recent attention, with a hereditary syndrome identified in one-third of patients diagnosed ≤ 35. We aimed to study this population to determine if a… read more here.
Keywords: young adults; adolescents young; panel; adults colorectal ... See more keywords
Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Surgeons"
DOI: 10.1016/j.jamcollsurg.2017.12.037
Abstract: BACKGROUND With the advent of multigene panel testing for breast cancer patients, germline mutations with unknown association with cancer risk, known as variants of uncertain significance (VUS), are being increasingly identified. Some studies have shown… read more here.
Keywords: multigene panel; breast cancer; panel testing; cancer ... See more keywords
Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.
Sign Up to like & getrecommendations! Published in 2017 at "Kidney international"
DOI: 10.1016/j.kint.2017.07.009
Abstract: Genetic testing in kidney disease has been gaining more attention in recent years as an important diagnostic tool. Especially in selected cases, genetic testing can be a first mode of diagnostics in various renal diseases.… read more here.
Keywords: variant calling; disease; panel testing; gene ... See more keywords
Estimating risk using multi-gene panel testing; do negative results change the risk?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2016.125
Abstract: Recently, Mannan et al.1 reported that multi-gene panel testing provided increased sensitivity for detection of pathogenic mutations, which characterize hereditary breast and/or ovarian cancer syndromes. I think it is important to recognize that while enormous… read more here.
Keywords: multi gene; risk; gene panel; panel testing ... See more keywords
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0633-8
Abstract: Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include. Methods To inform the clinical approach to hereditary cancer… read more here.
Keywords: genetic testing; criteria cohort; hereditary cancer; testing criteria ... See more keywords
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-00995-w
Abstract: Purpose Pharmacogenomics (PGx) studies how inherited genetic variations in individuals affect drug absorption, distribution, and metabolism. PGx panel testing can potentially help improve efficiency and accuracy in individualizing therapy. This study compared the cost-effectiveness between… read more here.
Keywords: cost; panel testing; panel; cardiovascular disease ... See more keywords