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CCND2 Gene Mutation

MedGen UID:
1672672
•Concept ID:
C4763580
•
Cell or Molecular Dysfunction
Synonyms: CCND2 Mutation; Cyclin D2 Gene Mutation

Definition

A change in the nucleotide sequence of the CCND2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCCND2 Gene Mutation

Professional guidelines

PubMed

Molecular characterization of metastatic exon 11 mutant gastrointestinal stromal tumors (GIST) beyond KIT/PDGFRα genotype evaluated by next generation sequencing (NGS).
Saponara M, Urbini M, Astolfi A, Indio V, Ercolani G, Del Gaudio M, Santini D, Pirini MG, Fiorentino M, Nannini M, Lolli C, Mandrioli A, Gatto L, Brandi G, Biasco G, Pinna AD, Pantaleo MA
Oncotarget 2015 Dec 8;6(39):42243-57. doi: 10.18632/oncotarget.6278. PMID: 26544626Free PMC Article
Genomic profiling of advanced-stage, metaplastic breast carcinoma by next-generation sequencing reveals frequent, targetable genomic abnormalities and potential new treatment options.
Ross JS, Badve S, Wang K, Sheehan CE, Boguniewicz AB, Otto GA, Yelensky R, Lipson D, Ali S, Morosini D, Chliemlecki J, Elvin JA, Miller VA, Stephens PJ
Arch Pathol Lab Med 2015 May;139(5):642-9. doi: 10.5858/arpa.2014-0200-OA. PMID: 25927147
DNA methylation status of key cell-cycle regulators such as CDKNA2/p16 and CCNA1 correlates with treatment response to doxorubicin and 5-fluorouracil in locally advanced breast tumors.
Klajic J, Busato F, Edvardsen H, Touleimat N, Fleischer T, Bukholm I, Børresen-Dale AL, Lønning PE, Tost J, Kristensen VN
Clin Cancer Res 2014 Dec 15;20(24):6357-66. Epub 2014 Oct 7 doi: 10.1158/1078-0432.CCR-14-0297. PMID: 25294903

Recent clinical studies

Etiology

Single-cell and bulk RNA sequencing analysis of B cell marker genes in TNBC TME landscape and immunotherapy.
Zhao F, Zhao C, Xu T, Lan Y, Lin H, Wu X, Li X
Front Immunol 2023;14:1245514. Epub 2023 Dec 4 doi: 10.3389/fimmu.2023.1245514. PMID: 38111587Free PMC Article
Global molecular alterations involving recurrence or progression of pediatric brain tumors.
Chen F, Chandrashekar DS, Scheurer ME, Varambally S, Creighton CJ
Neoplasia 2022 Jan;24(1):22-33. Epub 2021 Dec 3 doi: 10.1016/j.neo.2021.11.014. PMID: 34864569Free PMC Article
Recurrent CCND3 mutations in MLL-rearranged acute myeloid leukemia.
Matsuo H, Yoshida K, Fukumura K, Nakatani K, Noguchi Y, Takasaki S, Noura M, Shiozawa Y, Shiraishi Y, Chiba K, Tanaka H, Okada A, Nannya Y, Takeda J, Ueno H, Shiba N, Yamato G, Handa H, Ono Y, Hiramoto N, Ishikawa T, Usuki K, Ishiyama K, Miyawaki S, Itonaga H, Miyazaki Y, Kawamura M, Yamaguchi H, Kiyokawa N, Tomizawa D, Taga T, Tawa A, Hayashi Y, Mano H, Miyano S, Kamikubo Y, Ogawa S, Adachi S
Blood Adv 2018 Nov 13;2(21):2879-2889. doi: 10.1182/bloodadvances.2018019398. PMID: 30381403Free PMC Article
Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia.
Eisfeld AK, Kohlschmidt J, Schwind S, Nicolet D, Blachly JS, Orwick S, Shah C, Bainazar M, Kroll KW, Walker CJ, Carroll AJ, Powell BL, Stone RM, Kolitz JE, Baer MR, de la Chapelle A, Mrózek K, Byrd JC, Bloomfield CD
Leukemia 2017 Jun;31(6):1278-1285. Epub 2016 Nov 15 doi: 10.1038/leu.2016.332. PMID: 27843138Free PMC Article
The complex landscape of genetic alterations in mantle cell lymphoma.
Royo C, Salaverria I, Hartmann EM, Rosenwald A, Campo E, Beà S
Semin Cancer Biol 2011 Nov;21(5):322-34. Epub 2011 Sep 18 doi: 10.1016/j.semcancer.2011.09.007. PMID: 21945515

Diagnosis

Targeting UCHL1 Induces Cell Cycle Arrest in High-Risk Multiple Myeloma with t(4;14).
Kamseng P, Siriboonpiputtana T, Puavilai T, Chuncharunee S, Paisooksantivatana K, Chareonsirisuthigul T, Junking M, Chiraphapphaiboon W, Yenchitsomanus PT, Rerkamnuaychoke B
Pathol Oncol Res 2021;27:606567. Epub 2021 Mar 31 doi: 10.3389/pore.2021.606567. PMID: 34257568Free PMC Article
Integrative analysis of the genomic and transcriptomic landscape of double-refractory multiple myeloma.
Ziccheddu B, Biancon G, Bagnoli F, De Philippis C, Maura F, Rustad EH, Dugo M, Devecchi A, De Cecco L, Sensi M, Terragna C, Martello M, Bagratuni T, Kastritis E, Dimopoulos MA, Cavo M, Carniti C, Montefusco V, Corradini P, Bolli N
Blood Adv 2020 Mar 10;4(5):830-844. doi: 10.1182/bloodadvances.2019000779. PMID: 32126144Free PMC Article
Gene expression profiles of CMS2-epithelial/canonical colorectal cancers are largely driven by DNA copy number gains.
Berg KCG, Sveen A, Høland M, Alagaratnam S, Berg M, Danielsen SA, Nesbakken A, Søreide K, Lothe RA
Oncogene 2019 Aug;38(33):6109-6122. Epub 2019 Jul 15 doi: 10.1038/s41388-019-0868-5. PMID: 31308487Free PMC Article
CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1(-) mantle cell lymphoma.
Martín-Garcia D, Navarro A, Valdés-Mas R, Clot G, Gutiérrez-Abril J, Prieto M, Ribera-Cortada I, Woroniecka R, Rymkiewicz G, Bens S, de Leval L, Rosenwald A, Ferry JA, Hsi ED, Fu K, Delabie J, Weisenburger D, de Jong D, Climent F, O'Connor SJ, Swerdlow SH, Torrents D, Beltran S, Espinet B, González-Farré B, Veloza L, Costa D, Matutes E, Siebert R, Ott G, Quintanilla-Martinez L, Jaffe ES, López-Otín C, Salaverria I, Puente XS, Campo E, Beà S
Blood 2019 Feb 28;133(9):940-951. Epub 2018 Dec 11 doi: 10.1182/blood-2018-07-862151. PMID: 30538135Free PMC Article
Epigenetic regulation of ID4 in the determination of the BRCAness phenotype in breast cancer.
Branham MT, Campoy E, Laurito S, Branham R, Urrutia G, Orozco J, Gago F, Urrutia R, Roqué M
Breast Cancer Res Treat 2016 Jan;155(1):13-23. Epub 2015 Nov 27 doi: 10.1007/s10549-015-3648-0. PMID: 26610810Free PMC Article

Therapy

Gene mutation profiling and clinical significances in patients with renal cell carcinoma.
Wang Y, He P, Zhou X, Wang C, Fu J, Zhang D, Liao D, Zhou Z, Wu C, Gong W
Clinics (Sao Paulo) 2023 Jan-Dec;78:100259. Epub 2023 Jul 27 doi: 10.1016/j.clinsp.2023.100259. PMID: 37515929Free PMC Article
Inhibition of CDK4/6 and autophagy synergistically induces apoptosis in t(8;21) acute myeloid leukemia cells.
Nakatani K, Matsuo H, Harata Y, Higashitani M, Koyama A, Noura M, Nishinaka-Arai Y, Kamikubo Y, Adachi S
Int J Hematol 2021 Feb;113(2):243-253. Epub 2020 Oct 17 doi: 10.1007/s12185-020-03015-4. PMID: 33068248
A 4-month-old boy with gastrointestinal stromal tumor of mesocolon.
Jing X MD, Meng X MD, PhD, Gao Y MD, PhD, Yu J MD, PhD, Liu B MD, PhD
Cancer Biol Ther 2019;20(1):8-14. Epub 2018 Sep 25 doi: 10.1080/15384047.2018.1504719. PMID: 30252568Free PMC Article
Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.
Findlay JM, Castro-Giner F, Makino S, Rayner E, Kartsonaki C, Cross W, Kovac M, Ulahannan D, Palles C, Gillies RS, MacGregor TP, Church D, Maynard ND, Buffa F, Cazier JB, Graham TA, Wang LM, Sharma RA, Middleton M, Tomlinson I
Nat Commun 2016 Apr 5;7:11111. doi: 10.1038/ncomms11111. PMID: 27045317Free PMC Article
Genetic and expression alterations in association with the sarcomatous change of cholangiocarcinoma cells.
Yoo HJ, Yun BR, Kwon JH, Ahn HS, Seol MA, Lee MJ, Yu GR, Yu HC, Hong B, Choi K, Kim DG
Exp Mol Med 2009 Feb 28;41(2):102-15. doi: 10.3858/emm.2009.41.2.013. PMID: 19287191Free PMC Article

Prognosis

Single-cell and bulk RNA sequencing analysis of B cell marker genes in TNBC TME landscape and immunotherapy.
Zhao F, Zhao C, Xu T, Lan Y, Lin H, Wu X, Li X
Front Immunol 2023;14:1245514. Epub 2023 Dec 4 doi: 10.3389/fimmu.2023.1245514. PMID: 38111587Free PMC Article
Gene mutation profiling and clinical significances in patients with renal cell carcinoma.
Wang Y, He P, Zhou X, Wang C, Fu J, Zhang D, Liao D, Zhou Z, Wu C, Gong W
Clinics (Sao Paulo) 2023 Jan-Dec;78:100259. Epub 2023 Jul 27 doi: 10.1016/j.clinsp.2023.100259. PMID: 37515929Free PMC Article
Global molecular alterations involving recurrence or progression of pediatric brain tumors.
Chen F, Chandrashekar DS, Scheurer ME, Varambally S, Creighton CJ
Neoplasia 2022 Jan;24(1):22-33. Epub 2021 Dec 3 doi: 10.1016/j.neo.2021.11.014. PMID: 34864569Free PMC Article
Genetic profile and immunohistochemical study of clear cell renal carcinoma: Pathological-anatomical correlation and prognosis.
Diez-Calzadilla NA, Noguera Salvá R, Soriano Sarrió P, Martínez-Jabaloyas JM
Cancer Treat Res Commun 2021;27:100374. Epub 2021 Apr 18 doi: 10.1016/j.ctarc.2021.100374. PMID: 33932757
Recurrent CCND3 mutations in MLL-rearranged acute myeloid leukemia.
Matsuo H, Yoshida K, Fukumura K, Nakatani K, Noguchi Y, Takasaki S, Noura M, Shiozawa Y, Shiraishi Y, Chiba K, Tanaka H, Okada A, Nannya Y, Takeda J, Ueno H, Shiba N, Yamato G, Handa H, Ono Y, Hiramoto N, Ishikawa T, Usuki K, Ishiyama K, Miyawaki S, Itonaga H, Miyazaki Y, Kawamura M, Yamaguchi H, Kiyokawa N, Tomizawa D, Taga T, Tawa A, Hayashi Y, Mano H, Miyano S, Kamikubo Y, Ogawa S, Adachi S
Blood Adv 2018 Nov 13;2(21):2879-2889. doi: 10.1182/bloodadvances.2018019398. PMID: 30381403Free PMC Article

Clinical prediction guides

DROSHA Regulates Mesenchymal Gene Expression in Wilms Tumor.
Tiburcio PDB, Desai K, Kim J, Zhou Q, Guo L, Xiao X, Zhou L, Yuksel A, Catchpoole DR, Amatruda JF, Xu L, Chen KS
Mol Cancer Res 2024 Aug 2;22(8):711-720. doi: 10.1158/1541-7786.MCR-23-0930. PMID: 38647377Free PMC Article
Single-cell and bulk RNA sequencing analysis of B cell marker genes in TNBC TME landscape and immunotherapy.
Zhao F, Zhao C, Xu T, Lan Y, Lin H, Wu X, Li X
Front Immunol 2023;14:1245514. Epub 2023 Dec 4 doi: 10.3389/fimmu.2023.1245514. PMID: 38111587Free PMC Article
Gene mutation profiling and clinical significances in patients with renal cell carcinoma.
Wang Y, He P, Zhou X, Wang C, Fu J, Zhang D, Liao D, Zhou Z, Wu C, Gong W
Clinics (Sao Paulo) 2023 Jan-Dec;78:100259. Epub 2023 Jul 27 doi: 10.1016/j.clinsp.2023.100259. PMID: 37515929Free PMC Article
Global molecular alterations involving recurrence or progression of pediatric brain tumors.
Chen F, Chandrashekar DS, Scheurer ME, Varambally S, Creighton CJ
Neoplasia 2022 Jan;24(1):22-33. Epub 2021 Dec 3 doi: 10.1016/j.neo.2021.11.014. PMID: 34864569Free PMC Article
The complex landscape of genetic alterations in mantle cell lymphoma.
Royo C, Salaverria I, Hartmann EM, Rosenwald A, Campo E, Beà S
Semin Cancer Biol 2011 Nov;21(5):322-34. Epub 2011 Sep 18 doi: 10.1016/j.semcancer.2011.09.007. PMID: 21945515

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