Articles with "cdkn2a cdkn2b" as a keyword



Promoter hypermethylation inactivates CDKN2A, CDKN2B and RASSF1A genes in sporadic parathyroid adenomas

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Published in 2017 at "Scientific Reports"

DOI: 10.1038/s41598-017-03143-8

Abstract: Cyclin D1, a G1-S phase regulator, is upregulated in parathyroid adenomas. Since cyclin-dependent kinase (CDK) inhibitors, CDKN2A and CDKN2B, and RASSF1A (Ras-association domain family 1, isoform A) are involved in G1-S phase arrest and act… read more here.

Keywords: parathyroid adenomas; cdkn2b rassf1a; cdkn2a cdkn2b; promoter ... See more keywords

9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

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Published in 2022 at "Cold Spring Harbor Molecular Case Studies"

DOI: 10.1101/mcs.a006164

Abstract: Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions… read more here.

Keywords: involving cdkn2a; 9p21 microdeletion; microdeletion involving; primary cancers ... See more keywords

Richter Syndrome-Associated Genetic Lesions in TP53 and the Cell Cycle Inhibitors CDKN2A and CDKN2B Induce Transformation of a CD5+ B Cell Subset Characterized By a Restricted IGHV Repertoire, Autoreactivity and BCR Dependence

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Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-207095

Abstract: The Richter Syndrome (RS) genomic landscape is characterized by frequent loss-of-function (LOF) genetic lesions in negative cell-cycle regulators, such as the cyclin dependent kinase (CDK) inhibitors CDKN2A and CDKN2B, which are deleted in 40-50% of… read more here.

Keywords: mice; genetic lesions; cell; tp53 ... See more keywords

Case report: The smallest 9p21.3 microdeletion involving CDKN2A but not CDKN2B causes multiple plexiform neurofibromas

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Published in 2025 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2025.1437093

Abstract: Chromosome 9p21.3 is a locus associated with a rare autosomal dominant cancer predisposition syndrome characterized by early-onset melanoma and a broad spectrum of neural system tumors. Two major tumor-suppressor genes, cyclin-dependent kinase inhibitor 2A and… read more here.

Keywords: plexiform neurofibromas; cdkn2b; involving cdkn2a; cdkn2a ... See more keywords