Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants (Q24293661)

GOA release 2020-03-11

DNA mismatch repair

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GOA release 2020-03-11

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2

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Joan Brunet

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Ignacio Blanco

15

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Jesús Del Valle

object named as

Jesús Del Valle

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author name string

Ester Borràs

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Juan Cadiñanos

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Angela Brieger

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Inga Hinrichsen

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Ruben Cabanillas

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Matilde Navarro

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Xavier Sanjuan

10

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Eva Musulen

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Helen van der Klift

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Conxi Lázaro

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Guido Plotz

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Gabriel Capellá

Journal of Medical Genetics

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language of work or name

English

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publication date

August 2013

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published in

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volume

50

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issue

8

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page(s)

552-63

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cites work

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PMS2 involvement in patients suspected of Lynch syndrome.

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Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

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Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

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MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

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Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

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Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

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Long-range PCR facilitates the identification of PMS2-specific mutations.

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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

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Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

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Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

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Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

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Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q

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Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

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Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha

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Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair

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Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

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The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair

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Comprehensive functional assessment of MLH1 variants of unknown significance

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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

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New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

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Avoidance of pseudogene interference in the detection of 3' deletions in PMS2.

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Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

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Improved splice site detection in Genie

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Predictive identification of exonic splicing enhancers in human genes

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Exon inclusion is dependent on predictable exonic splicing enhancers

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A method and server for predicting damaging missense mutations

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Accounting for human polymorphisms predicted to affect protein function

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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

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A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression

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A CRM1‐dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization

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Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair

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A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

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Prediction and assessment of splicing alterations: implications for clinical testing

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Recurrent and founder mutations in the PMS2 gene.

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Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

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Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

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Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

21 January 2018

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Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair

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Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

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A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

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Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

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Polymorphisms in Genes of Nucleotide and Base Excision Repair: Risk and Prognosis of Colorectal Cancer

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RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

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7 January 2021

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome

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7 January 2021

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021

Integrated analysis of unclassified variants in mismatch repair genes

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021