Cargando…

Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome

The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low‐penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS). The inability to classify most VUS interferes with personalized healthcare. The co...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rayner, Emily, Tiersma, Yvonne, Fortuno, Cristina, van Hees‐Stuivenberg, Sandrine, Drost, Mark, Thompson, Bryony, Spurdle, Amanda B., de Wind, Niels
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545740/ https://www.ncbi.nlm.nih.gov/pubmed/35451539 http://dx.doi.org/10.1002/humu.24387

Ejemplares similares

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
por: Drost, Mark, et al.
Publicado: (2020)

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation
por: Thompson, Bryony A., et al.
Publicado: (2020)

Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome
por: Ijsselsteijn, Robbert, et al.
Publicado: (2021)

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps
por: Poaty, Henriette, et al.
Publicado: (2023)

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification
por: Thompson, Bryony A., et al.
Publicado: (2015)

SNP association study in PMS2-associated Lynch syndrome
por: ten Broeke, Sanne W., et al.
Publicado: (2017)

PMS2-associated Lynch syndrome: Past, present and future
por: Andini, Katarina D., et al.
Publicado: (2023)

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
por: Roberts, Maegan E, et al.
Publicado: (2018)

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
por: Schubert, Stephanie A., et al.
Publicado: (2020)

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
por: Haraldsdottir, Sigurdis, et al.
Publicado: (2017)

Unexpected moves: a conformational change in MutSα enables high-affinity DNA mismatch binding
por: Bruekner, Susanne R, et al.
Publicado: (2023)

Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
por: Goverde, A., et al.
Publicado: (2017)

Knowledge, Attitudes and Referral Patterns of Lynch Syndrome: A Survey of Clinicians in Australia
por: Tan, Yen Y., et al.
Publicado: (2014)

Detection of Microorganisms in Body Fluids via MTT-PMS Assay
por: Chen, Cheng-Han, et al.
Publicado: (2021)

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome
por: Zighelboim, Israel, et al.
Publicado: (2009)

PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer
por: Guo, Xiaoqing, et al.
Publicado: (2019)

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
por: Talseth-Palmer, Bente A, et al.
Publicado: (2010)

Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients
por: Kato, Aya, et al.
Publicado: (2016)

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity
por: Palmer, Nathan, et al.
Publicado: (2023)

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity
por: Houlleberghs, Hellen, et al.
Publicado: (2017)

Pseudodifferential operators (PMS-34)
por: Taylor, Michael Eugene
Publicado: (2017)

Gain Stablization of SiPMs
por: Eigen, Gerald
Publicado: (2017)

Gain stabilization of SiPMs
por: Cvach, Jaroslav, et al.
Publicado: (2016)

Laplace transform (PMS-6)
por: Widder, David Vernon
Publicado: (2015)

Gain stabilization of SiPMs
por: Polák, Ivo
Publicado: (2017)

Understanding and simulating SiPMs
por: Acerbi, Fabio, et al.
Publicado: (2019)

Etale cohomology (PMS-33)
por: Milne, James S
Publicado: (2016)

Gain Stabilization of SiPMs
por: Cvach, Jaroslav, et al.
Publicado: (2014)

Potential Application of the WST-8-mPMS Assay for Rapid Viable Microorganism Detection
por: Chen, Cheng-Han, et al.
Publicado: (2023)

A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue
por: Klančar, Gašper, et al.
Publicado: (2020)

Harmonic analysis (PMS-43): real-variable methods, orthogonality, and oscillatory integrals (PMS-43)
por: Stein, Elias M, et al.
Publicado: (1993)

Molecular subtype classification of urothelial carcinoma in Lynch syndrome
por: Therkildsen, Christina, et al.
Publicado: (2018)

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm
por: Morris, Brian, et al.
Publicado: (2016)

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)
por: Buchanan, Daniel D, et al.
Publicado: (2014)

Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL
por: Wernstedt, Annekatrin, et al.
Publicado: (2012)

Gain Stabilization of SiPMs and Afterpulsing
por: Eigen, G., et al.
Publicado: (2019)

Gain stabilization of SiPMs and afterpulsing
por: Eigen, G., et al.
Publicado: (2019)

Foundations of algebraic analysis (PMS-37)
por: Kashiwara, Masaki, et al.
Publicado: (2017)

Topics in ergodic theory (PMS-44)
por: Sinai, Iakov Grigorevich
Publicado: (2017)

Topology of 4-manifolds (PMS-39)
por: Freedman, Michael H, et al.
Publicado: (1990)

Cannot write session to /tmp/vufind_sessions/sess_qfghti03mb6qlqkgt3ao8c0ji3