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PTCH1 Gene Deletion

MedGen UID:
1617556
•Concept ID:
C4528656
•
Cell or Molecular Dysfunction
Synonyms: Patched 1 Gene Deletion; Patched Homolog (Drosophila) Gene Deletion; Patched Homolog 1 Gene Deletion; PTC Gene Deletion; PTC1 Gene Deletion; PTCH Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the PTCH1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPTCH1 Gene Deletion

Recent clinical studies

Etiology

The role of sonic hedgehog homologue signal pathway in hypospadias aetiology.
Saraç M, Canpolat Ş, Önalan Etem E, Tektemur A, Tartar T, Bakal U, Kazez A
J Pediatr Urol 2021 Oct;17(5):630.e1-630.e7. Epub 2021 Jun 30 doi: 10.1016/j.jpurol.2021.06.025. PMID: 34275739
Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma.
Banerjee S, Corless CL, Miettinen MM, Noh S, Ustoy R, Davis JL, Tang CM, Yebra M, Burgoyne AM, Sicklick JK
J Transl Med 2019 Jul 30;17(1):246. doi: 10.1186/s12967-019-1995-z. PMID: 31362756Free PMC Article
Medulloblastoma, WNT-activated/SHH-activated: clinical impact of molecular analysis and histogenetic evaluation.
Cambruzzi E
Childs Nerv Syst 2018 May;34(5):809-815. Epub 2018 Mar 26 doi: 10.1007/s00381-018-3765-2. PMID: 29582169
Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck.
Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S, Panda CK
Ann Surg Oncol 2012 Jul;19 Suppl 3:S528-38. Epub 2011 Aug 23 doi: 10.1245/s10434-011-1991-x. PMID: 21861228
Cyclooxygenase-dependent signaling is causally linked to non-melanoma skin carcinogenesis: pharmacological, genetic, and clinical evidence.
Müller-Decker K
Cancer Metastasis Rev 2011 Dec;30(3-4):343-61. doi: 10.1007/s10555-011-9306-z. PMID: 22038018

Diagnosis

Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature.
Cayrol J, Nightingale M, Challis J, Campbell M, Sullivan M, Heloury Y
J Pediatr Hematol Oncol 2019 Nov;41(8):e517-e520. doi: 10.1097/MPH.0000000000001322. PMID: 30371535
Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck.
Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S, Panda CK
Ann Surg Oncol 2012 Jul;19 Suppl 3:S528-38. Epub 2011 Aug 23 doi: 10.1245/s10434-011-1991-x. PMID: 21861228
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y
J Hum Genet 2009 Jul;54(7):403-8. Epub 2009 Jun 26 doi: 10.1038/jhg.2009.55. PMID: 19557015
Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S
Dermatology 2009;219(2):111-8. Epub 2009 May 14 doi: 10.1159/000219247. PMID: 19439922
Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.
Sinha S, Singh RK, Alam N, Roy A, Roychoudhury S, Panda CK
Mol Cancer 2008 Nov 6;7:84. doi: 10.1186/1476-4598-7-84. PMID: 18990233Free PMC Article

Therapy

High Relative Biological Effectiveness of 2 MeV Fast Neutrons for Induction of Medulloblastoma in Ptch1+/- Mice with Radiation-specific Deletion on Chromosome 13.
Tsuruoka C, Kaminishi M, Shinagawa M, Shang Y, Amasaki Y, Shimada Y, Kakinuma S
Radiat Res 2021 Aug 1;196(2):225-234. doi: 10.1667/RADE-20-00025.1. PMID: 34046685
Metformin alleviates hyperglycemia-induced endothelial impairment by downregulating autophagy via the Hedgehog pathway.
Niu C, Chen Z, Kim KT, Sun J, Xue M, Chen G, Li S, Shen Y, Zhu Z, Wang X, Liang J, Jiang C, Cong W, Jin L, Li X
Autophagy 2019 May;15(5):843-870. Epub 2019 Jan 27 doi: 10.1080/15548627.2019.1569913. PMID: 30653446Free PMC Article
Molecular basis of basal cell carcinogenesis in the atomic-bomb survivor population: p53 and PTCH gene alterations.
Mizuno T, Tokuoka S, Kishikawa M, Nakashima E, Mabuchi K, Iwamoto KS
Carcinogenesis 2006 Nov;27(11):2286-94. Epub 2006 Jun 15 doi: 10.1093/carcin/bgl107. PMID: 16777989
UV-specific p53 and PTCH mutations in sporadic basal cell carcinoma of sun-exposed skin.
Ratner D, Peacocke M, Zhang H, Ping XL, Tsou HC
J Am Acad Dermatol 2001 Feb;44(2):293-7. doi: 10.1067/mjd.2001.112361. PMID: 11174390

Prognosis

Medulloblastoma, WNT-activated/SHH-activated: clinical impact of molecular analysis and histogenetic evaluation.
Cambruzzi E
Childs Nerv Syst 2018 May;34(5):809-815. Epub 2018 Mar 26 doi: 10.1007/s00381-018-3765-2. PMID: 29582169
Inactivation of PTCH1 is associated with the development of cervical carcinoma: clinical and prognostic implication.
Chakraborty C, Dutta S, Mukherjee N, Samadder S, Roychowdhury A, Roy A, Mondal RK, Basu P, Roychoudhury S, Panda CK
Tumour Biol 2015 Feb;36(2):1143-54. Epub 2014 Oct 21 doi: 10.1007/s13277-014-2707-1. PMID: 25330948
Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck.
Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S, Panda CK
Ann Surg Oncol 2012 Jul;19 Suppl 3:S528-38. Epub 2011 Aug 23 doi: 10.1245/s10434-011-1991-x. PMID: 21861228
Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.
Stefanius K, Kantola T, Tuomisto A, Vahteristo P, Karttunen TJ, Aaltonen LA, Mäkinen MJ, Karhu A
Virchows Arch 2011 Feb;458(2):213-9. Epub 2011 Jan 14 doi: 10.1007/s00428-010-1031-4. PMID: 21234763
Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S
Dermatology 2009;219(2):111-8. Epub 2009 May 14 doi: 10.1159/000219247. PMID: 19439922

Clinical prediction guides

The hedgehog co-receptor BOC differentially regulates SHH signaling during craniofacial development.
Echevarría-Andino ML, Allen BL
Development 2020 Dec 14;147(23) doi: 10.1242/dev.189076. PMID: 33060130Free PMC Article
Metformin alleviates hyperglycemia-induced endothelial impairment by downregulating autophagy via the Hedgehog pathway.
Niu C, Chen Z, Kim KT, Sun J, Xue M, Chen G, Li S, Shen Y, Zhu Z, Wang X, Liang J, Jiang C, Cong W, Jin L, Li X
Autophagy 2019 May;15(5):843-870. Epub 2019 Jan 27 doi: 10.1080/15548627.2019.1569913. PMID: 30653446Free PMC Article
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.
Gianferante DM, Rotunno M, Dean M, Zhou W, Hicks BD, Wyatt K, Jones K, Wang M, Zhu B, Goldstein AM, Mirabello L
Mol Genet Genomic Med 2018 Nov;6(6):1168-1180. Epub 2018 Nov 8 doi: 10.1002/mgg3.498. PMID: 30411536Free PMC Article
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, Bulman M, Gokhale C, Wallace AJ, Newman WG, Evans DG
Hum Mutat 2016 Mar;37(3):250-6. Epub 2016 Jan 11 doi: 10.1002/humu.22938. PMID: 26615784
Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.
Stefanius K, Kantola T, Tuomisto A, Vahteristo P, Karttunen TJ, Aaltonen LA, Mäkinen MJ, Karhu A
Virchows Arch 2011 Feb;458(2):213-9. Epub 2011 Jan 14 doi: 10.1007/s00428-010-1031-4. PMID: 21234763

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