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ACD Gene Mutation

MedGen UID:
1666144
•Concept ID:
C4726640
•
Cell or Molecular Dysfunction
Synonyms: ACD, Shelterin Complex Subunit and Telomerase Recruitment Factor Gene Mutation; Adrenocortical Dysplasia Homolog (Mouse) Gene Mutation; PIP1 Gene Mutation; PTOP Gene Mutation; TINT1 Gene Mutation; TPP1 Gene Mutation

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Antiviral resistance mutations and genotype-associated amino acid substitutions in treatment-naïve hepatitis B virus-infected individuals from the Indian subcontinent.
Ismail AM, Samuel P, Eapen CE, Kannangai R, Abraham P
Intervirology 2012;55(1):36-44. Epub 2011 Feb 11 doi: 10.1159/000323521. PMID: 21311172
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
Long Y, Gu YS, Han W, Li XY, Yu P, Qi M
J Zhejiang Univ Sci B 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154. PMID: 21462384Free PMC Article
HIV-1 pol mutation frequency by subtype and treatment experience: extension of the HIVseq program to seven non-B subtypes.
Rhee SY, Kantor R, Katzenstein DA, Camacho R, Morris L, Sirivichayakul S, Jorgensen L, Brigido LF, Schapiro JM, Shafer RW; International Non Subtype B HIV-1 Working Group
AIDS 2006 Mar 21;20(5):643-51. doi: 10.1097/01.aids.0000216363.36786.2b. PMID: 16514293Free PMC Article

Recent clinical studies

Etiology

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
Soares de Sá BC, Moredo LF, Torrezan GT, Fidalgo F, de Araújo ÉSS, Formiga MN, Duprat JP, Carraro DM
Int J Mol Sci 2023 Oct 31;24(21) doi: 10.3390/ijms242115830. PMID: 37958811Free PMC Article
Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.
Church AJ, Corson LB, Kao PC, Imamovic-Tuco A, Reidy D, Doan D, Kang W, Pinto N, Maese L, Laetsch TW, Kim A, Colace SI, Macy ME, Applebaum MA, Bagatell R, Sabnis AJ, Weiser DA, Glade-Bender JL, Homans AC, Hipps J, Harris H, Manning D, Al-Ibraheemi A, Li Y, Gupta H, Cherniack AD, Lo YC, Strand GR, Lee LA, Pinches RS, Lazo De La Vega L, Harden MV, Lennon NJ, Choi S, Comeau H, Harris MH, Forrest SJ, Clinton CM, Crompton BD, Kamihara J, MacConaill LE, Volchenboum SL, Lindeman NI, Van Allen E, DuBois SG, London WB, Janeway KA
Nat Med 2022 Aug;28(8):1581-1589. Epub 2022 Jun 23 doi: 10.1038/s41591-022-01856-6. PMID: 35739269Free PMC Article
Germline mutations predisposing to melanoma.
Toussi A, Mans N, Welborn J, Kiuru M
J Cutan Pathol 2020 Jul;47(7):606-616. Epub 2020 May 11 doi: 10.1111/cup.13689. PMID: 32249949Free PMC Article
Melanoma genetics.
Read J, Wadt KA, Hayward NK
J Med Genet 2016 Jan;53(1):1-14. Epub 2015 Sep 3 doi: 10.1136/jmedgenet-2015-103150. PMID: 26337759

Diagnosis

Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.
Church AJ, Corson LB, Kao PC, Imamovic-Tuco A, Reidy D, Doan D, Kang W, Pinto N, Maese L, Laetsch TW, Kim A, Colace SI, Macy ME, Applebaum MA, Bagatell R, Sabnis AJ, Weiser DA, Glade-Bender JL, Homans AC, Hipps J, Harris H, Manning D, Al-Ibraheemi A, Li Y, Gupta H, Cherniack AD, Lo YC, Strand GR, Lee LA, Pinches RS, Lazo De La Vega L, Harden MV, Lennon NJ, Choi S, Comeau H, Harris MH, Forrest SJ, Clinton CM, Crompton BD, Kamihara J, MacConaill LE, Volchenboum SL, Lindeman NI, Van Allen E, DuBois SG, London WB, Janeway KA
Nat Med 2022 Aug;28(8):1581-1589. Epub 2022 Jun 23 doi: 10.1038/s41591-022-01856-6. PMID: 35739269Free PMC Article
Disruption of the circadian clock component BMAL1 elicits an endocrine adaption impacting on insulin sensitivity and liver disease.
Jouffe C, Weger BD, Martin E, Atger F, Weger M, Gobet C, Ramnath D, Charpagne A, Morin-Rivron D, Powell EE, Sweet MJ, Masoodi M, Uhlenhaut NH, Gachon F
Proc Natl Acad Sci U S A 2022 Mar 8;119(10):e2200083119. Epub 2022 Mar 1 doi: 10.1073/pnas.2200083119. PMID: 35238641Free PMC Article
Primary Sclerosing Cholangitis-Associated Cholangiocarcinoma Demonstrates High Intertumor and Intratumor Heterogeneity.
Kamp EJCA, Peppelenbosch MP, Doukas M, Verheij J, Ponsioen CY, van Marion R, Bruno MJ, Groot Koerkamp B, Dinjens WNM, de Vries AC
Clin Transl Gastroenterol 2021 Oct 5;12(10):e00410. doi: 10.14309/ctg.0000000000000410. PMID: 34608877Free PMC Article
Interstitial lung disease in infancy.
Bush A, Gilbert C, Gregory J, Nicholson AG, Semple T, Pabary R
Early Hum Dev 2020 Nov;150:105186. Epub 2020 Sep 15 doi: 10.1016/j.earlhumdev.2020.105186. PMID: 32958330
SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis.
Beuschlein F, Keegan CE, Bavers DL, Mutch C, Hutz JE, Shah S, Ulrich-Lai YM, Engeland WC, Jeffs B, Jameson JL, Hammer GD
Endocr Res 2002 Nov;28(4):597-607. doi: 10.1081/erc-120016972. PMID: 12530669

Therapy

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458
Neoantigen-targeted CD8(+) T cell responses with PD-1 blockade therapy.
Puig-Saus C, Sennino B, Peng S, Wang CL, Pan Z, Yuen B, Purandare B, An D, Quach BB, Nguyen D, Xia H, Jilani S, Shao K, McHugh C, Greer J, Peabody P, Nayak S, Hoover J, Said S, Jacoby K, Dalmas O, Foy SP, Conroy A, Yi MC, Shieh C, Lu W, Heeringa K, Ma Y, Chizari S, Pilling MJ, Ting M, Tunuguntla R, Sandoval S, Moot R, Hunter T, Zhao S, Saco JD, Perez-Garcilazo I, Medina E, Vega-Crespo A, Baselga-Carretero I, Abril-Rodriguez G, Cherry G, Wong DJ, Hundal J, Chmielowski B, Speiser DE, Bethune MT, Bao XR, Gros A, Griffith OL, Griffith M, Heath JR, Franzusoff A, Mandl SJ, Ribas A
Nature 2023 Mar;615(7953):697-704. Epub 2023 Mar 8 doi: 10.1038/s41586-023-05787-1. PMID: 36890230Free PMC Article
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.
Johnson TA, Maekawa S, Fujita M, An J, Ju YS, Maejima K, Kanazashi Y, Jikuya R, Okawa Y, Sasagawa S, Yagi K, Okazaki Y, Kuroda N, Takata R, Obara W, Nakagawa H
Hum Mol Genet 2023 Jan 6;32(2):290-303. doi: 10.1093/hmg/ddac180. PMID: 35981075
Disorders of iron metabolism. Part II: iron deficiency and iron overload.
Muñoz M, García-Erce JA, Remacha ÁF
J Clin Pathol 2011 Apr;64(4):287-96. Epub 2010 Dec 20 doi: 10.1136/jcp.2010.086991. PMID: 21177268
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Kakhlon O, Breuer W, Munnich A, Cabantchik ZI
Can J Physiol Pharmacol 2010 Mar;88(3):187-96. doi: 10.1139/Y09-128. PMID: 20393584

Prognosis

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.
Pellegrini C, Cardelli L, Ghiorzo P, Pastorino L, Potrony M, García-Casado Z, Elefanti L, Stefanaki I, Mastrangelo M, Necozione S, Aguilera P, Rodríguez-Hernández A, Di Nardo L, Rocco T, Del Regno L, Badenas C, Carrera C, Malvehy J, Requena C, Bañuls J, Stratigos AJ, Peris K, Menin C, Calista D, Nagore E, Puig S, Landi MT, Fargnoli MC
J Eur Acad Dermatol Venereol 2023 Dec;37(12):2498-2508. Epub 2023 Sep 5 doi: 10.1111/jdv.19461. PMID: 37611275Free PMC Article
Neoantigen-targeted CD8(+) T cell responses with PD-1 blockade therapy.
Puig-Saus C, Sennino B, Peng S, Wang CL, Pan Z, Yuen B, Purandare B, An D, Quach BB, Nguyen D, Xia H, Jilani S, Shao K, McHugh C, Greer J, Peabody P, Nayak S, Hoover J, Said S, Jacoby K, Dalmas O, Foy SP, Conroy A, Yi MC, Shieh C, Lu W, Heeringa K, Ma Y, Chizari S, Pilling MJ, Ting M, Tunuguntla R, Sandoval S, Moot R, Hunter T, Zhao S, Saco JD, Perez-Garcilazo I, Medina E, Vega-Crespo A, Baselga-Carretero I, Abril-Rodriguez G, Cherry G, Wong DJ, Hundal J, Chmielowski B, Speiser DE, Bethune MT, Bao XR, Gros A, Griffith OL, Griffith M, Heath JR, Franzusoff A, Mandl SJ, Ribas A
Nature 2023 Mar;615(7953):697-704. Epub 2023 Mar 8 doi: 10.1038/s41586-023-05787-1. PMID: 36890230Free PMC Article
Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.
Church AJ, Corson LB, Kao PC, Imamovic-Tuco A, Reidy D, Doan D, Kang W, Pinto N, Maese L, Laetsch TW, Kim A, Colace SI, Macy ME, Applebaum MA, Bagatell R, Sabnis AJ, Weiser DA, Glade-Bender JL, Homans AC, Hipps J, Harris H, Manning D, Al-Ibraheemi A, Li Y, Gupta H, Cherniack AD, Lo YC, Strand GR, Lee LA, Pinches RS, Lazo De La Vega L, Harden MV, Lennon NJ, Choi S, Comeau H, Harris MH, Forrest SJ, Clinton CM, Crompton BD, Kamihara J, MacConaill LE, Volchenboum SL, Lindeman NI, Van Allen E, DuBois SG, London WB, Janeway KA
Nat Med 2022 Aug;28(8):1581-1589. Epub 2022 Jun 23 doi: 10.1038/s41591-022-01856-6. PMID: 35739269Free PMC Article
Interstitial lung disease in infancy.
Bush A, Gilbert C, Gregory J, Nicholson AG, Semple T, Pabary R
Early Hum Dev 2020 Nov;150:105186. Epub 2020 Sep 15 doi: 10.1016/j.earlhumdev.2020.105186. PMID: 32958330

Clinical prediction guides

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.
Pellegrini C, Cardelli L, Ghiorzo P, Pastorino L, Potrony M, García-Casado Z, Elefanti L, Stefanaki I, Mastrangelo M, Necozione S, Aguilera P, Rodríguez-Hernández A, Di Nardo L, Rocco T, Del Regno L, Badenas C, Carrera C, Malvehy J, Requena C, Bañuls J, Stratigos AJ, Peris K, Menin C, Calista D, Nagore E, Puig S, Landi MT, Fargnoli MC
J Eur Acad Dermatol Venereol 2023 Dec;37(12):2498-2508. Epub 2023 Sep 5 doi: 10.1111/jdv.19461. PMID: 37611275Free PMC Article
Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.
Church AJ, Corson LB, Kao PC, Imamovic-Tuco A, Reidy D, Doan D, Kang W, Pinto N, Maese L, Laetsch TW, Kim A, Colace SI, Macy ME, Applebaum MA, Bagatell R, Sabnis AJ, Weiser DA, Glade-Bender JL, Homans AC, Hipps J, Harris H, Manning D, Al-Ibraheemi A, Li Y, Gupta H, Cherniack AD, Lo YC, Strand GR, Lee LA, Pinches RS, Lazo De La Vega L, Harden MV, Lennon NJ, Choi S, Comeau H, Harris MH, Forrest SJ, Clinton CM, Crompton BD, Kamihara J, MacConaill LE, Volchenboum SL, Lindeman NI, Van Allen E, DuBois SG, London WB, Janeway KA
Nat Med 2022 Aug;28(8):1581-1589. Epub 2022 Jun 23 doi: 10.1038/s41591-022-01856-6. PMID: 35739269Free PMC Article
Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.
Malińska K, Deptuła J, Rogoża-Janiszewska E, Górski B, Scott R, Rudnicka H, Kashyap A, Domagała P, Hybiak J, Masojć B, Cybulski C, Kram A, Boer M, Kiedrowicz M, Lubiński J, Dębniak T
Eur J Cancer Prev 2020 Nov;29(6):511-519. doi: 10.1097/CEJ.0000000000000633. PMID: 32976206
Melanoma genetics.
Read J, Wadt KA, Hayward NK
J Med Genet 2016 Jan;53(1):1-14. Epub 2015 Sep 3 doi: 10.1136/jmedgenet-2015-103150. PMID: 26337759
POLE mutations in families predisposed to cutaneous melanoma.
Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK
Fam Cancer 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. PMID: 26251183

Recent systematic reviews

Acquired Cystic Disease-Associated Renal Cell Carcinoma: A Systematic Review and Meta-analysis.
Duong NX, Le MK, Nguyen TT, Nguyen DD, Vuong HG, Kondo T, Mitsui T
Clin Genitourin Cancer 2024 Jun;22(3):102050. Epub 2024 Feb 14 doi: 10.1016/j.clgc.2024.02.001. PMID: 38502982

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