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CDKN1A Gene Mutation

MedGen UID:
1654443
•Concept ID:
C4725764
•
Cell or Molecular Dysfunction
Synonyms: CDKN1 Gene Mutation; CIP1 Gene Mutation; Cyclin Dependent Kinase Inhibitor 1A Gene Mutation; MDA-6 Gene Mutation; MDA6 Gene Mutation; P21 Gene Mutation; p21CIP1 Gene Mutation; PIC1 Gene Mutation; SDI1 Gene Mutation; WAF1 Gene Mutation

Definition

A change in the nucleotide sequence of the CDKN1A gene. [from NCI]

Professional guidelines

PubMed

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.
Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Pareja R, Muntean A, Arsentales V, Caixàs A, Rigla M
Front Endocrinol (Lausanne) 2023;14:1244361. Epub 2023 Sep 21 doi: 10.3389/fendo.2023.1244361. PMID: 37810884Free PMC Article
Comprehensive Analysis of Senescence Characteristics Defines a Novel Prognostic Signature to Guide Personalized Treatment for Clear Cell Renal Cell Carcinoma.
Zhou P, Liu Z, Hu H, Lu Y, Xiao J, Wang Y, Xun Y, Xia Q, Liu C, Hu J, Wang S
Front Immunol 2022;13:901671. Epub 2022 Jun 2 doi: 10.3389/fimmu.2022.901671. PMID: 35720278Free PMC Article
Development of Therapeutic dsP21-322 for Cancer Treatment.
Kang MR, Li G, Pan T, Xing JC, Li LC
Adv Exp Med Biol 2017;983:217-229. doi: 10.1007/978-981-10-4310-9_16. PMID: 28639203

Recent clinical studies

Etiology

Phase I Results of Bromodomain and Extra-Terminal Inhibitor PLX51107 in Combination with Azacitidine in Patients with Relapsed/Refractory Myeloid Malignancies.
Senapati J, Fiskus WC, Daver N, Wilson NR, Ravandi F, Garcia-Manero G, Kadia T, DiNardo CD, Jabbour E, Burger J, Short NJ, Alvarado Y, Jain N, Masarova L, Issa GC, Qiao W, Khoury JD, Pierce S, Miller D, Sasaki K, Konopleva M, Bhalla KN, Borthakur G, Pemmaraju N
Clin Cancer Res 2023 Nov 1;29(21):4352-4360. doi: 10.1158/1078-0432.CCR-23-1429. PMID: 37585491
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.
Kim J, Jeong K, Jun H, Kim K, Bae JM, Song MG, Yi H, Park S, Woo GU, Lee DW, Kim TY, Lee KH, Im SA
Hum Genomics 2023 Jan 6;17(1):2. doi: 10.1186/s40246-022-00447-3. PMID: 36604691Free PMC Article
Anti-oncogenic PTEN induces ovarian cancer cell senescence by targeting P21.
Ke X, Li L, Li J, Zheng M, Liu P
Cell Biol Int 2022 Jan;46(1):118-128. Epub 2021 Oct 19 doi: 10.1002/cbin.11709. PMID: 34643308Free PMC Article
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.
Andrade RC, Dos Santos AC, de Aguirre Neto JC, Nevado J, Lapunzina P, Vargas FR
Fam Cancer 2017 Apr;16(2):243-248. doi: 10.1007/s10689-016-9935-z. PMID: 27714481
Human papillomaviruses in non-melanoma skin cancer.
de Villiers EM, Ruhland A, Sekarić P
Semin Cancer Biol 1999 Dec;9(6):413-22. doi: 10.1006/scbi.1999.0145. PMID: 10712888

Diagnosis

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.
Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Pareja R, Muntean A, Arsentales V, Caixàs A, Rigla M
Front Endocrinol (Lausanne) 2023;14:1244361. Epub 2023 Sep 21 doi: 10.3389/fendo.2023.1244361. PMID: 37810884Free PMC Article
DNMT3A mutation promotes leukemia development through NAM-NAD metabolic reprogramming.
Yang X, Wang X, Yang Y, Li Z, Chen Y, Shang S, Wang Y
J Transl Med 2023 Jul 18;21(1):481. doi: 10.1186/s12967-023-04323-z. PMID: 37464424Free PMC Article
An antioxidant response element regulates the HIF1α axis in breast cancer cells.
Lacher SE, Skon-Hegg C, Ruis BL, Krznarich J, Slattery M
Free Radic Biol Med 2023 Aug 1;204:243-251. Epub 2023 May 11 doi: 10.1016/j.freeradbiomed.2023.05.003. PMID: 37179033Free PMC Article
CDKN1A upregulation and cisplatin‑pemetrexed resistance in non‑small cell lung cancer cells.
Zamagni A, Pasini A, Pirini F, Ravaioli S, Giordano E, Tesei A, Calistri D, Ulivi P, Fabbri F, Foca F, Delmonte A, Molinari C
Int J Oncol 2020 Jun;56(6):1574-1584. Epub 2020 Mar 24 doi: 10.3892/ijo.2020.5024. PMID: 32236605Free PMC Article
ARID1A gene mutation in ovarian and endometrial cancers (Review).
Takeda T, Banno K, Okawa R, Yanokura M, Iijima M, Irie-Kunitomi H, Nakamura K, Iida M, Adachi M, Umene K, Nogami Y, Masuda K, Kobayashi Y, Tominaga E, Aoki D
Oncol Rep 2016 Feb;35(2):607-13. Epub 2015 Nov 16 doi: 10.3892/or.2015.4421. PMID: 26572704Free PMC Article

Therapy

Phase I Results of Bromodomain and Extra-Terminal Inhibitor PLX51107 in Combination with Azacitidine in Patients with Relapsed/Refractory Myeloid Malignancies.
Senapati J, Fiskus WC, Daver N, Wilson NR, Ravandi F, Garcia-Manero G, Kadia T, DiNardo CD, Jabbour E, Burger J, Short NJ, Alvarado Y, Jain N, Masarova L, Issa GC, Qiao W, Khoury JD, Pierce S, Miller D, Sasaki K, Konopleva M, Bhalla KN, Borthakur G, Pemmaraju N
Clin Cancer Res 2023 Nov 1;29(21):4352-4360. doi: 10.1158/1078-0432.CCR-23-1429. PMID: 37585491
Tumor suppressor p53: Biology, signaling pathways, and therapeutic targeting.
Hernández Borrero LJ, El-Deiry WS
Biochim Biophys Acta Rev Cancer 2021 Aug;1876(1):188556. Epub 2021 Apr 29 doi: 10.1016/j.bbcan.2021.188556. PMID: 33932560Free PMC Article
Development of Therapeutic dsP21-322 for Cancer Treatment.
Kang MR, Li G, Pan T, Xing JC, Li LC
Adv Exp Med Biol 2017;983:217-229. doi: 10.1007/978-981-10-4310-9_16. PMID: 28639203
ARID1A gene mutation in ovarian and endometrial cancers (Review).
Takeda T, Banno K, Okawa R, Yanokura M, Iijima M, Irie-Kunitomi H, Nakamura K, Iida M, Adachi M, Umene K, Nogami Y, Masuda K, Kobayashi Y, Tominaga E, Aoki D
Oncol Rep 2016 Feb;35(2):607-13. Epub 2015 Nov 16 doi: 10.3892/or.2015.4421. PMID: 26572704Free PMC Article
Drug discovery and p53.
Lane DP, Hupp TR
Drug Discov Today 2003 Apr 15;8(8):347-55. doi: 10.1016/s1359-6446(03)02669-2. PMID: 12681938

Prognosis

Impact of tumor suppressor genes inactivation on the multidrug resistance phenotype of hepatocellular carcinoma cells.
Sanchez-Martin A, Sanchon-Sanchez P, Romero MR, Marin JJG, Briz O
Biomed Pharmacother 2023 Sep;165:115209. Epub 2023 Jul 25 doi: 10.1016/j.biopha.2023.115209. PMID: 37499450
Tumor suppressor p53: Biology, signaling pathways, and therapeutic targeting.
Hernández Borrero LJ, El-Deiry WS
Biochim Biophys Acta Rev Cancer 2021 Aug;1876(1):188556. Epub 2021 Apr 29 doi: 10.1016/j.bbcan.2021.188556. PMID: 33932560Free PMC Article
CDKN1A upregulation and cisplatin‑pemetrexed resistance in non‑small cell lung cancer cells.
Zamagni A, Pasini A, Pirini F, Ravaioli S, Giordano E, Tesei A, Calistri D, Ulivi P, Fabbri F, Foca F, Delmonte A, Molinari C
Int J Oncol 2020 Jun;56(6):1574-1584. Epub 2020 Mar 24 doi: 10.3892/ijo.2020.5024. PMID: 32236605Free PMC Article
NFIB promotes cell survival by directly suppressing p21 transcription in TP53-mutated triple-negative breast cancer.
Liu RZ, Vo TM, Jain S, Choi WS, Garcia E, Monckton EA, Mackey JR, Godbout R
J Pathol 2019 Feb;247(2):186-198. Epub 2018 Dec 18 doi: 10.1002/path.5182. PMID: 30350349
Epstein-Barr Virus MicroRNA miR-BART5-3p Inhibits p53 Expression.
Zheng X, Wang J, Wei L, Peng Q, Gao Y, Fu Y, Lu Y, Qin Z, Zhang X, Lu J, Ou C, Li Z, Zhang X, Liu P, Xiong W, Li G, Yan Q, Ma J
J Virol 2018 Dec 1;92(23) Epub 2018 Nov 12 doi: 10.1128/JVI.01022-18. PMID: 30209170Free PMC Article

Clinical prediction guides

Pan-cancer antagonistic inhibition pattern of ATM-driven G2/M checkpoint pathway vs other DNA repair pathways.
Zolotovskaia MA, Modestov AA, Suntsova MV, Rachkova AA, Koroleva EV, Poddubskaya EV, Sekacheva MI, Tkachev VS, Garazha AV, Glusker AA, Seryakov AP, Vladimirova US, Rumiantsev PO, Moisseev AA, Zharkov DO, Kuzmin DV, Zhao X, Prassolov VS, Shegay PV, Li X, Steinbichler TB, Kim E, Sorokin MI, Wang Y, Buzdin AA
DNA Repair (Amst) 2023 Mar;123:103448. Epub 2023 Jan 13 doi: 10.1016/j.dnarep.2023.103448. PMID: 36657260
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.
Kim J, Jeong K, Jun H, Kim K, Bae JM, Song MG, Yi H, Park S, Woo GU, Lee DW, Kim TY, Lee KH, Im SA
Hum Genomics 2023 Jan 6;17(1):2. doi: 10.1186/s40246-022-00447-3. PMID: 36604691Free PMC Article
EGR1 Haploinsufficiency Confers a Fitness Advantage to Hematopoietic Stem Cells Following Chemotherapy.
Stoddart A, Fernald AA, Davis EM, McNerney ME, Le Beau MM
Exp Hematol 2022 Nov;115:54-67. Epub 2022 Aug 20 doi: 10.1016/j.exphem.2022.08.003. PMID: 35995095Free PMC Article
Anti-oncogenic PTEN induces ovarian cancer cell senescence by targeting P21.
Ke X, Li L, Li J, Zheng M, Liu P
Cell Biol Int 2022 Jan;46(1):118-128. Epub 2021 Oct 19 doi: 10.1002/cbin.11709. PMID: 34643308Free PMC Article
CDKN1A upregulation and cisplatin‑pemetrexed resistance in non‑small cell lung cancer cells.
Zamagni A, Pasini A, Pirini F, Ravaioli S, Giordano E, Tesei A, Calistri D, Ulivi P, Fabbri F, Foca F, Delmonte A, Molinari C
Int J Oncol 2020 Jun;56(6):1574-1584. Epub 2020 Mar 24 doi: 10.3892/ijo.2020.5024. PMID: 32236605Free PMC Article

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