Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? [PDF]
Frontiers in OncologyIntroductionLynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the PMS2 gene are associated with <15% of all cases.
Daniele Paixão +9 more
doaj +4 more sources
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report [PDF]
BMC Medical Genomics, 2021 Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.
Shiqing Tan +3 more
doaj +2 more sources
Stabilization of mismatch repair gene PMS2 by glycogen synthase kinase 3β is implicated in the treatment of cervical carcinoma [PDF]
BMC Cancer, 2010 Background PMS2 expression loss was reported in a variety of human. However, its importance has not been fully understood in cervical carcinoma. The aim of this study was to determine the expression of PMS2 in cervical carcinoma and evaluate the ...
Wang Ze +5 more
doaj +4 more sources
MutLα heterodimers modify the molecular phenotype of Friedreich ataxia. [PDF]
PLoS ONE, 2014 BackgroundFriedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression.
Vahid Ezzatizadeh +5 more
doaj +3 more sources
Novel MSH2 frameshift variant (c.579delG) in a patient with suspected Lynch syndrome in China [PDF]
Frontiers in MedicinePurposeTo identify genetic variants in Chinese families with colorectal cancer.MethodsExpression of mismatch-repair proteins was assessed via immunohistochemistry in three probands. Genetic variants were identified using whole-exome sequencing. In silico
Haichun Ni +8 more
doaj +2 more sources
PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor [PDF]
Journal of Ovarian Research, 2017 Background Granulosa cell tumors are rare ovarian malignancies. Their characteristics include unpredictable indolent growth with malignant potential and late recurrence. Approximately 95% are of adult type. Recent molecular studies have characterized the
Wen-Chung Wang +2 more
doaj +2 more sources
In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome [PDF]
BMC Genomic DataLynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes.
Cătălin Vasile Munteanu +4 more
doaj +2 more sources
BMC Medical Genetics, 2018 Background Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL.
Genevieve M Gould +11 more
doaj +3 more sources
Analysis of DNA mismatch repair and microsatellite instability in molecular typing of endometrial carcinoma [PDF]
Discover OncologyDNA mismatch repair (MMR)/microsatellite instability (MSI) status is an indispensable biomarker for predicting immunotherapy response, screening for Lynch syndrome (LS), and molecularly classifying endometrial carcinoma (EC).
Na-Mei Li +3 more
doaj +2 more sources
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model [PDF]
Neurobiology of Disease, 2012 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation within intron 1 of the FXN gene.
Vahid Ezzatizadeh +6 more
doaj +2 more sources