P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

Bibliographic Details
Main Authors:	David Stafford, Jason Reuter, Samskruthi Padigepati, Flavia Facio, Michael Korn, Britt Johnson, Keith Nykamp
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424001018

Similar Items

Expression of MLH-1, PMS-2, MSH-2, MSH-6 markers and histopathological evaluation in colorectal cancer
by: Syed Ali Baqher Hussaini, et al.
Published: (2024-07-01)

IMMUNOHISTOCHEMICAL STUDY OF MSH2, MSH6, PMS2, MLH1 IN EVALUATION OF DIFFERENTIATION GRADE OF COLON ADENOCARCINOMA
by: G. A. Raskin, et al.
Published: (2016-02-01)

Simultaneous Analysis of MLH1, MSH2, MSH6, PMS2 and KRAS in Patients with Gastric and Colon Cancer Using Stochastic Sensors
by: Damaris-Cristina Gheorghe, et al.
Published: (2022-09-01)

Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs.
by: Inga Hinrichsen, et al.
Published: (2014-01-01)

<it>MSH2 </it>and <it>MLH1 </it>testing
by: Kurzawski Grzegorz, et al.
Published: (2008-06-01)

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation
by: Jason Reuter, et al.
Published: (2023-01-01)

Novel germline mutations in MLH1 and PMS2 in familial Lynch syndrome
by: Yuhan Cai, et al.
Published: (2022-06-01)

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
by: Jose Miguel Moreno-Ortiz, et al.
Published: (2016-01-01)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
by: Nayê Balzan Schneider, et al.
Published: (2018-05-01)

Rare single‐nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome
by: Seyed Mohsen Mirabdolhosseini, et al.
Published: (2024-01-01)

Hesperetin effect on MLH1 and MSH2 expression on breast cancer cells BT-549
by: Assim Khattab Hasan, et al.
Published: (2023-01-01)

Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age
by: Taha Reşid Özdemir, et al.
Published: (2019-01-01)

P046: Involvement of MLH1 and MSH2 genes in hereditary susceptibility to CRC in the Moroccan population
by: Abdelhamid Bouramtane, et al.
Published: (2023-01-01)

Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
by: Dandan Li, et al.
Published: (2013-01-01)

Exploring the modulation of MLH1 and MSH2 gene expression in hesperetin-treated breast cancer cells (BT-474)
by: Ahmed Mohammed Salman, et al.
Published: (2024-01-01)

Investigation of APC, MLH1 and MSH2 Mutations in Patients with Hereditary Colorectal Carcinoma: A Single Center Experience
by: Mehmet Buğrahan Düz
Published: (2021-01-01)

Link between immunoexpression of hMLH1 and hMSH2 proteins and clinical-epidemiological aspects of actinic cheilitis
by: Dmitry José de Santana Sarmento, et al.
Published: (2016-08-01)

Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.
by: Catherine E Smith, et al.
Published: (2013-10-01)

Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability.
by: Tomlinson, I, et al.
Published: (1996)

Differential expression of hMLH1 and hMSH2 is related to bladder cancer grade, stage and prognosis but not microsatellite instability.
by: Catto, J, et al.
Published: (2003)

TDP43 interacts with MLH1 and MSH6 proteins in a DNA damage-inducible manner
by: Vincent E. Provasek, et al.
Published: (2024-06-01)

Germline mutations in the mismatch repair genes hMLH1 and hMSH2 may predispose to the formation of multiple adenomatous polyps
by: Fearnhead, N, et al.
Published: (2002)

hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
by: Kim, J, et al.
Published: (2001)

Study of hesperetin effect on modulating transcription levels of MLH1 and MSH2 genes in SKBR3 breast cancer cell line
by: Naser Hameed Saleh, et al.
Published: (2023-01-01)

Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer
by: Shadi Javan, et al.
Published: (2019-05-01)

Differentiation between Gastric and Colorectal Adenocarcinomas Based on Maspin, MLH1, PMS2 and K-Ras Concentrations Determined Using Stochastic Sensors
by: Alexandru Adrian Bratei, et al.
Published: (2023-11-01)

Prognostic value of p53, hMLH1, hMSH2, MGMT and COX-2 in the QUASAR-1 Dukes' stage B colorectal cancer cohort
by: Jubb, A, et al.
Published: (2002)

<it>MSH6 </it>and <it>PMS2 </it>mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
by: Talseth-Palmer Bente A, et al.
Published: (2010-05-01)

P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing*
by: Toby Manders, et al.
Published: (2024-01-01)

P073: Withdrawn
Published: (2023-01-01)

Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer‐predisposing genes in familial early‐onset colorectal cancer
by: Nayeralsadat Fatemi, et al.
Published: (2023-09-01)

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.
by: Nathan Palmer, et al.
Published: (2023-01-01)

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity
by: Nathan Palmer, et al.
Published: (2023-01-01)

Sacramento 3,073 Miles
by: Henry Hildebrandt, et al.
Published: (2020-02-01)

Parameters of Reserpine Analogs That Induce MSH2/MSH6-Dependent Cytotoxic Response
by: Aksana Vasilyeva, et al.
Published: (2010-01-01)

High-throughput sequencing and in-silico analysis confirm pathogenicity of novel MSH3 variants in African American colorectal cancer
by: Mudasir Rashid, et al.
Published: (2024-03-01)

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients
by: Jacqueline Cappadocia, et al.
Published: (2024-01-01)

Msh2-Msh3 Interferes with Okazaki Fragment Processing to Promote Trinucleotide Repeat Expansions
by: Athena Kantartzis, et al.
Published: (2012-08-01)

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome
by: Cătălin Vasile Munteanu, et al.
Published: (2024-11-01)

Germline MLH1 and MSH6 mutations from two Lynch syndrome families identified in a patient with early-onset of endometrial cancer: A case report
by: Yi-Ching Huang, et al.
Published: (2024-06-01)