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CDKN2C Gene Deletion

MedGen UID:
267939
•Concept ID:
C1511431
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCDKN2C Gene Deletion

Recent clinical studies

Etiology

Outcome of Multiple Myeloma with Chromosome 1q Gain and 1p Deletion after Autologous Hematopoietic Stem Cell Transplantation: Propensity Score Matched Analysis.
Varma A, Sui D, Milton DR, Tang G, Saini N, Hasan O, Mukherjee A, Joseph JJ, Bashir Q, Rondon G, Srour S, Popat UR, Hosing CM, Nieto Y, Kebriaei P, Alousi AM, Ahmed S, Mehta R, Khouri IF, Ahmed H, Iyer S, Weber DM, Thomas SK, Manasanch E, Lee HC, Patel K, Ciurea SO, Shpall EJ, Orlowski RZ, Champlin RE, Qazilbash MH
Biol Blood Marrow Transplant 2020 Apr;26(4):665-671. Epub 2019 Dec 24 doi: 10.1016/j.bbmt.2019.12.726. PMID: 31881283Free PMC Article
A case of simultaneous occurrence of acute myeloid leukemia and multiple myeloma.
Lu-Qun W, Hao L, Xiang-Xin L, Fang-Lin L, Ling-Ling W, Xue-Liang C, Ming H
BMC Cancer 2015 Oct 16;15:724. doi: 10.1186/s12885-015-1743-6. PMID: 26474569Free PMC Article
IKAROS deletions dictate a unique gene expression signature in patients with adult B-cell acute lymphoblastic leukemia.
Iacobucci I, Iraci N, Messina M, Lonetti A, Chiaretti S, Valli E, Ferrari A, Papayannidis C, Paoloni F, Vitale A, Storlazzi CT, Ottaviani E, Guadagnuolo V, Durante S, Vignetti M, Soverini S, Pane F, Foà R, Baccarani M, Müschen M, Perini G, Martinelli G
PLoS One 2012;7(7):e40934. Epub 2012 Jul 25 doi: 10.1371/journal.pone.0040934. PMID: 22848414Free PMC Article
Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival.
Boyd KD, Ross FM, Walker BA, Wardell CP, Tapper WJ, Chiecchio L, Dagrada G, Konn ZJ, Gregory WM, Jackson GH, Child JA, Davies FE, Morgan GJ; NCRI Haematology Oncology Studies Group
Clin Cancer Res 2011 Dec 15;17(24):7776-84. Epub 2011 Oct 12 doi: 10.1158/1078-0432.CCR-11-1791. PMID: 21994415Free PMC Article
Identification of two distinct deleted regions on the short arm of chromosome 1 and rare mutation of the CDKN2C gene from 1p32 in oligodendroglial tumors.
Husemann K, Wolter M, Büschges R, Boström J, Sabel M, Reifenberger G
J Neuropathol Exp Neurol 1999 Oct;58(10):1041-50. doi: 10.1097/00005072-199910000-00002. PMID: 10515227

Diagnosis

Outcome of Multiple Myeloma with Chromosome 1q Gain and 1p Deletion after Autologous Hematopoietic Stem Cell Transplantation: Propensity Score Matched Analysis.
Varma A, Sui D, Milton DR, Tang G, Saini N, Hasan O, Mukherjee A, Joseph JJ, Bashir Q, Rondon G, Srour S, Popat UR, Hosing CM, Nieto Y, Kebriaei P, Alousi AM, Ahmed S, Mehta R, Khouri IF, Ahmed H, Iyer S, Weber DM, Thomas SK, Manasanch E, Lee HC, Patel K, Ciurea SO, Shpall EJ, Orlowski RZ, Champlin RE, Qazilbash MH
Biol Blood Marrow Transplant 2020 Apr;26(4):665-671. Epub 2019 Dec 24 doi: 10.1016/j.bbmt.2019.12.726. PMID: 31881283Free PMC Article
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Tessoulin B, Moreau-Aubry A, Descamps G, Gomez-Bougie P, Maïga S, Gaignard A, Chiron D, Ménoret E, Le Gouill S, Moreau P, Amiot M, Pellat-Deceunynck C
J Hematol Oncol 2018 Dec 13;11(1):137. doi: 10.1186/s13045-018-0679-0. PMID: 30545397Free PMC Article
Role of CDKN2C Fluorescence In Situ Hybridization in the Management of Medullary Thyroid Carcinoma.
El Naofal M, Kim A, Yon HY, Baity M, Ming Z, Bui-Griffith J, Tang Z, Robinson M, Grubbs EG, Cote GJ, Hu P
Ann Clin Lab Sci 2017 Sep;47(5):523-528. PMID: 29066476Free PMC Article
Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling.
Beà S, Salaverria I, Armengol L, Pinyol M, Fernández V, Hartmann EM, Jares P, Amador V, Hernández L, Navarro A, Ott G, Rosenwald A, Estivill X, Campo E
Blood 2009 Mar 26;113(13):3059-69. Epub 2008 Nov 4 doi: 10.1182/blood-2008-07-170183. PMID: 18984860Free PMC Article
Deletions of CDKN2C in multiple myeloma: biological and clinical implications.
Leone PE, Walker BA, Jenner MW, Chiecchio L, Dagrada G, Protheroe RK, Johnson DC, Dickens NJ, Brito JL, Else M, Gonzalez D, Ross FM, Chen-Kiang S, Davies FE, Morgan GJ
Clin Cancer Res 2008 Oct 1;14(19):6033-41. doi: 10.1158/1078-0432.CCR-08-0347. PMID: 18829482Free PMC Article

Therapy

A case of simultaneous occurrence of acute myeloid leukemia and multiple myeloma.
Lu-Qun W, Hao L, Xiang-Xin L, Fang-Lin L, Ling-Ling W, Xue-Liang C, Ming H
BMC Cancer 2015 Oct 16;15:724. doi: 10.1186/s12885-015-1743-6. PMID: 26474569Free PMC Article
IKAROS deletions dictate a unique gene expression signature in patients with adult B-cell acute lymphoblastic leukemia.
Iacobucci I, Iraci N, Messina M, Lonetti A, Chiaretti S, Valli E, Ferrari A, Papayannidis C, Paoloni F, Vitale A, Storlazzi CT, Ottaviani E, Guadagnuolo V, Durante S, Vignetti M, Soverini S, Pane F, Foà R, Baccarani M, Müschen M, Perini G, Martinelli G
PLoS One 2012;7(7):e40934. Epub 2012 Jul 25 doi: 10.1371/journal.pone.0040934. PMID: 22848414Free PMC Article
Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival.
Boyd KD, Ross FM, Walker BA, Wardell CP, Tapper WJ, Chiecchio L, Dagrada G, Konn ZJ, Gregory WM, Jackson GH, Child JA, Davies FE, Morgan GJ; NCRI Haematology Oncology Studies Group
Clin Cancer Res 2011 Dec 15;17(24):7776-84. Epub 2011 Oct 12 doi: 10.1158/1078-0432.CCR-11-1791. PMID: 21994415Free PMC Article
A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value.
Walker BA, Leone PE, Chiecchio L, Dickens NJ, Jenner MW, Boyd KD, Johnson DC, Gonzalez D, Dagrada GP, Protheroe RK, Konn ZJ, Stockley DM, Gregory WM, Davies FE, Ross FM, Morgan GJ
Blood 2010 Oct 14;116(15):e56-65. Epub 2010 Jul 8 doi: 10.1182/blood-2010-04-279596. PMID: 20616218
Analysis of G(1)/S checkpoint regulators in metastatic melanoma.
Sauroja I, Smeds J, Vlaykova T, Kumar R, Talve L, Hahka-Kemppinen M, Punnonen K, Jansèn CT, Hemminki K, Pyrhönen S
Genes Chromosomes Cancer 2000 Aug;28(4):404-14. doi: 10.1002/1098-2264(200008)28:4<404::aid-gcc6>3.0.co;2-p. PMID: 10862049

Prognosis

Role of CDKN2C Fluorescence In Situ Hybridization in the Management of Medullary Thyroid Carcinoma.
El Naofal M, Kim A, Yon HY, Baity M, Ming Z, Bui-Griffith J, Tang Z, Robinson M, Grubbs EG, Cote GJ, Hu P
Ann Clin Lab Sci 2017 Sep;47(5):523-528. PMID: 29066476Free PMC Article
The varied distribution and impact of RAS codon and other key DNA alterations across the translocation cyclin D subgroups in multiple myeloma.
Stein CK, Pawlyn C, Chavan S, Rasche L, Weinhold N, Corken A, Buros A, Sonneveld P, Jackson GH, Landgren O, Mughal T, He J, Barlogie B, Bergsagel PL, Davies FE, Walker BA, Morgan GJ
Oncotarget 2017 Apr 25;8(17):27854-27867. doi: 10.18632/oncotarget.15718. PMID: 28427158Free PMC Article
Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival.
Boyd KD, Ross FM, Walker BA, Wardell CP, Tapper WJ, Chiecchio L, Dagrada G, Konn ZJ, Gregory WM, Jackson GH, Child JA, Davies FE, Morgan GJ; NCRI Haematology Oncology Studies Group
Clin Cancer Res 2011 Dec 15;17(24):7776-84. Epub 2011 Oct 12 doi: 10.1158/1078-0432.CCR-11-1791. PMID: 21994415Free PMC Article
Analysis of G(1)/S checkpoint regulators in metastatic melanoma.
Sauroja I, Smeds J, Vlaykova T, Kumar R, Talve L, Hahka-Kemppinen M, Punnonen K, Jansèn CT, Hemminki K, Pyrhönen S
Genes Chromosomes Cancer 2000 Aug;28(4):404-14. doi: 10.1002/1098-2264(200008)28:4<404::aid-gcc6>3.0.co;2-p. PMID: 10862049
Homozygous deletions of the CDKN2C/p18INK4C gene on the short arm of chromosome 1 in anaplastic oligodendrogliomas.
Pohl U, Cairncross JG, Louis DN
Brain Pathol 1999 Oct;9(4):639-43. doi: 10.1111/j.1750-3639.1999.tb00545.x. PMID: 10517502Free PMC Article

Clinical prediction guides

Outcome of Multiple Myeloma with Chromosome 1q Gain and 1p Deletion after Autologous Hematopoietic Stem Cell Transplantation: Propensity Score Matched Analysis.
Varma A, Sui D, Milton DR, Tang G, Saini N, Hasan O, Mukherjee A, Joseph JJ, Bashir Q, Rondon G, Srour S, Popat UR, Hosing CM, Nieto Y, Kebriaei P, Alousi AM, Ahmed S, Mehta R, Khouri IF, Ahmed H, Iyer S, Weber DM, Thomas SK, Manasanch E, Lee HC, Patel K, Ciurea SO, Shpall EJ, Orlowski RZ, Champlin RE, Qazilbash MH
Biol Blood Marrow Transplant 2020 Apr;26(4):665-671. Epub 2019 Dec 24 doi: 10.1016/j.bbmt.2019.12.726. PMID: 31881283Free PMC Article
A case of simultaneous occurrence of acute myeloid leukemia and multiple myeloma.
Lu-Qun W, Hao L, Xiang-Xin L, Fang-Lin L, Ling-Ling W, Xue-Liang C, Ming H
BMC Cancer 2015 Oct 16;15:724. doi: 10.1186/s12885-015-1743-6. PMID: 26474569Free PMC Article
Review of alterations of the cyclin-dependent kinase inhibitor INK4 family genes p15, p16, p18 and p19 in human leukemia-lymphoma cells.
Drexler HG
Leukemia 1998 Jun;12(6):845-59. doi: 10.1038/sj.leu.2401043. PMID: 9639410
Lack of mutation in the cyclin-dependent kinase inhibitor, p19INK4d, in tumor-derived cell lines and primary tumors.
Zariwala M, Xiong Y
Oncogene 1996 Nov 7;13(9):2033-8. PMID: 8934552
Intragenic mutations of the p16(INK4), p15(INK4B) and p18 genes in primary non-small-cell lung cancers.
Rusin MR, Okamoto A, Chorazy M, Czyzewski K, Harasim J, Spillare EA, Hagiwara K, Hussain SP, Xiong Y, Demetrick DJ, Harris CC
Int J Cancer 1996 Mar 15;65(6):734-9. doi: 10.1002/(SICI)1097-0215(19960315)65:6<734::AID-IJC4>3.0.CO;2-#. PMID: 8631583

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