Articles with "pms2" as a keyword



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The coding microsatellite mutation profile of PMS2-deficient colorectal cancer.

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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
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Response to ten Broeke et al.

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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
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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

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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
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Identification of Lynch syndrome risk variants in the Romanian population

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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
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Prevalence and clinical characterization of MMR-D/MSI extra-colonic cancers among germline PMS2 mutation carriers.

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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
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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

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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
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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)

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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
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PMS2-associated Lynch syndrome: Past, present and future

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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