Results 1 to 10 of about 2,530,443 (206)

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, Xiaoting Wu, Aoxue Wang, Li Ying   +3 more
doaj   +5 more sources

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome [PDF]

BMC Genomic Data
Lynch 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, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa   +4 more
doaj   +4 more sources

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? [PDF]

Frontiers in Oncology
IntroductionLynch 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, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela   +9 more
doaj   +4 more sources

Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene [PDF]

Human Mutation, 2019
Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2). The diagnosis of LS is often challenged by the identification of missense mutations where the functional ...
Brandon D'Arcy, Jessa Blount, Aishwarya Prakash   +2 more
exaly   +5 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, Da Bang, Wang Shu, Shu Yi, Zhang Yuan, Li Hua   +5 more
doaj   +6 more sources

Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

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, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan, Dale Muzzey   +11 more
doaj   +4 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, Ya-Ting Lee, Yen-Chein Lai   +2 more
doaj   +2 more sources

Novel MSH2 frameshift variant (c.579delG) in a patient with suspected Lynch syndrome in China [PDF]

Frontiers in Medicine
PurposeTo 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, Xiufang Wang, Yi Zhu, Chengzhi He, Hengfei Li, Aiping Deng, Fei You, Juyi Li, Yi Hu   +8 more
doaj   +2 more sources

PMS2-associated Lynch syndrome: Past, present and future

Frontiers in Oncology, 2023
Carriers of any pathogenic variant in one of the MMR genes (path_MMR carriers) were traditionally thought to be at comparable risk of developing a range of different malignancies, foremost colorectal cancer (CRC) and endometrial cancer.
Katarina D. Andini, Maartje Nielsen, Manon Suerink, Noah C. Helderman, Jan Jacob Koornstra, Aysel Ahadova, Matthias Kloor, Marian J.E. Mourits, Klaas Kok, Rolf H. Sijmons, Sanne W. Bajwa–ten Broeke   +10 more
doaj   +3 more sources

Pms2 deficiency results in increased mutation in the Hprt gene but not the Tk gene of Tk+/- transgenic mice [PDF]

Mutagenesis, 2003
The effects of deficiency in the DNA mismatch repair (MMR) protein Pms2 were investigated using the endogenous mouse Hprt and Tk genes as reporters of intragenic mutation and loss of heterozygosity (LOH). Pms2(-/-)Tk(+/-), Pms2(+/+)Tk(+/-), Pms2(+/-)Tk(+/-) and Pms2(-/-)Tk(-/-) mice were bred from Pms2(+/-)Tk(+/-) mice.
Barbara Parsons, Vasily Dobrovolsky, Joseph G Shaddock   +2 more
exaly   +3 more sources