The coding microsatellite mutation profile of PMS2-deficient colorectal cancer.
Sign Up to like & getrecommendations! Published in 2021 at "Experimental and molecular pathology"
DOI: 10.1016/j.yexmp.2021.104668
Abstract: Lynch syndrome (LS) is caused by a pathogenic heterozygous germline variant in one of the DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. LS-associated colorectal carcinomas (CRCs) are characterized by MMR deficiency and… read more here.
Keywords: variant carriers; pms2; crcs; pms2 deficient ... See more keywords
Response to ten Broeke et al.
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0031-7
Abstract: We appreciate the thoughtful feedback by ten Broeke et al. on our manuscript entitled “MSH6 and PMS2 Germ-line Pathogenic Variants Implicated in Lynch Syndrome Are Associated with Breast Cancer.” While we agree with most of… read more here.
Keywords: pms2; pathogenic variants; ten broeke; breast cancer ... See more keywords
Solitary Loss of PMS2 in a patient with Colon carcinoma
Sign Up to like & getrecommendations! Published in 2024 at "American Journal of Clinical Pathology"
DOI: 10.1093/ajcp/aqae129.285
Abstract: In the United States, there are about 150,000 new cases of Colorectal cancer (CRC) and about 50,000 CRC related deaths each year. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) accounts for 2% - 4% of CRC.… read more here.
Keywords: solitary loss; cancer; pms2; lynch syndrome ... See more keywords
Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Cancer Prevention"
DOI: 10.1097/cej.0000000000000769
Abstract: Objective Lynch syndrome is caused by germline mutations in the mismatch repair (MMR) genes, such as the PMS2 gene, and is characterised by a familial accumulation of colorectal cancer. The penetrance of cancer in PMS2… read more here.
Keywords: penetrance; pms2; colorectal cancer; cancer risk ... See more keywords
Identification of Lynch syndrome risk variants in the Romanian population
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.13881
Abstract: Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH,… read more here.
Keywords: pms2; risk; romanian population; lynch syndrome ... See more keywords
Abstract 6011: Pharmacological inhibition of PMS2 increases tumor mutational burden, induces microsatellite instability and elicits immune mediated rejection in vivo
Sign Up to like & getrecommendations! Published in 2024 at "Cancer Research"
DOI: 10.1158/1538-7445.am2024-6011
Abstract: Tumors carrying defects in DNA mismatch repair (MMR-d) display high tumor mutational burden (TMB) and increased tumor neoantigen levels. MMR-d leads to accumulation of single nucleotide variants (SNVs) and insertions or deletions (indels) amongst repetitive… read more here.
Keywords: tumor mutational; pms2; microsatellite instability; inhibition pms2 ... See more keywords
The First Case of Lynch Syndrome-Associated Penile Cancer Harboring a Heterozygous PMS2 Frameshift Variant
Sign Up to like & getrecommendations! Published in 2024 at "Urologia Internationalis"
DOI: 10.1159/000541252
Abstract: Abstract Introduction: Penile squamous cell carcinoma (PSCC) is a rare malignancy in men with poor survival in metastatic disease. Lynch syndrome (LS) is a cancer predisposition, autosomal-dominant, inherited disorder that arises from loss of function… read more here.
Keywords: cancer; first case; pms2; lynch syndrome ... See more keywords
Prevalence and clinical characterization of MMR-D/MSI extra-colonic cancers among germline PMS2 mutation carriers.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.1527
Abstract: 1527Background: PMS2-associated Lynch syndrome (LS) may have a more modest phenotype than that associated with other mismatch repair (MMR) genes (MLH1, MSH2, MSH6, EPCAM). Recent studies suggest li... read more here.
Keywords: clinical characterization; pms2; characterization mmr; mmr msi ... See more keywords
Sigmoid Colon Adenocarcinoma with Isolated Loss of PMS2 Presenting in a Patient with Synchronous Prostate Cancer with Intact MMR: Diagnosis and Analysis of the Family Pedigree
Sign Up to like & getrecommendations! Published in 2018 at "AntiCancer Research"
DOI: 10.21873/anticanres.12796
Abstract: Lynch syndrome (LS) patients with isolated PMS2 loss in the colon cancer, while intact MMR in the prostate cancer, are exceedingly rare. Herein, we report such a case. A 71-year-old male was found to have… read more here.
Keywords: pms2; prostate cancer; colon; cancer ... See more keywords
Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.799807
Abstract: Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Accumulating evidence demonstrates that there is significant biological heterogeneity across MMR genes.… read more here.
Keywords: cancer; lynch syndrome; lung cancer; dmmr msi ... See more keywords
PMS2-associated Lynch syndrome: Past, present and future
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1127329
Abstract: 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.… read more here.
Keywords: lynch syndrome; deficient crcs; pms2; mmr ... See more keywords