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PTEN Gene Frameshift Mutation

MedGen UID:
1787196
•Concept ID:
C5446681
•
Cell or Molecular Dysfunction
Synonyms: MMAC1 Gene Frameshift Mutation; Mutated in Multiple Advanced Cancers 1 Gene Frameshift Mutation; Phosphatase and Tensin Homolog Gene Frameshift Mutation; PTEN Frameshift Mutation; PTEN1 Gene Frameshift Mutation; TEP1 Gene Frameshift Mutation

Definition

A deletion or insertion mutation in the PTEN gene that shifts the reading frame for the transcript. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPTEN Gene Frameshift Mutation

Professional guidelines

PubMed

Case Series of Men with the Germline APC I1307K variant and Treatment-Emergent Neuroendocrine Prostate Cancer.
Economides MP, Nakazawa M, Lee JW, Li X, Hollifield L, Chambers R, Sarfaty M, Goldberg JD, Antonarakis ES, Wise DR
Clin Genitourin Cancer 2024 Feb;22(1):e31-e37.e1. Epub 2023 Jun 28 doi: 10.1016/j.clgc.2023.06.013. PMID: 37482523
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.
Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F
BMC Med Genet 2014 Feb 27;15:26. doi: 10.1186/1471-2350-15-26. PMID: 24580998Free PMC Article

Recent clinical studies

Etiology

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.
Jurca CM, Frățilă O, Iliaș T, Jurca A, Cătana A, Moisa C, Jurca AD
Genes (Basel) 2023 Oct 5;14(10) doi: 10.3390/genes14101909. PMID: 37895258Free PMC Article
Genetic mutations in smoking-associated prostate cancer.
Elshafei A, Al-Toubat M, Feibus AH, Koul K, Jazayeri SB, Lelani N, Henry V, Balaji KC
Prostate 2023 Sep;83(13):1229-1237. Epub 2023 Jul 16 doi: 10.1002/pros.24554. PMID: 37455402
Mutational signature of extracranial meningioma metastases and their respective primary tumors.
Biczok A, Thorsteinsdottir J, Karschnia P, Ruf VC, Tonn JC, Herms J, Schichor C, Dorostkar MM
Acta Neuropathol Commun 2023 Jan 14;11(1):12. doi: 10.1186/s40478-023-01505-0. PMID: 36641486Free PMC Article
Gene Panel Testing in Hereditary Breast Cancer.
Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH
Arch Iran Med 2020 Mar 1;23(3):155-162. PMID: 32126783
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E
Cancer 2019 Aug 15;125(16):2829-2836. Epub 2019 Jun 17 doi: 10.1002/cncr.32083. PMID: 31206626Free PMC Article

Diagnosis

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome-Case Report and Brief Review of the Literature.
Jurca CM, Frățilă O, Iliaș T, Jurca A, Cătana A, Moisa C, Jurca AD
Genes (Basel) 2023 Oct 5;14(10) doi: 10.3390/genes14101909. PMID: 37895258Free PMC Article
Genetic mutations in smoking-associated prostate cancer.
Elshafei A, Al-Toubat M, Feibus AH, Koul K, Jazayeri SB, Lelani N, Henry V, Balaji KC
Prostate 2023 Sep;83(13):1229-1237. Epub 2023 Jul 16 doi: 10.1002/pros.24554. PMID: 37455402
Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.
Lee YA, Im SW, Jung KC, Chung EJ, Shin CH, Kim JI, Park YJ
Thyroid 2020 Aug;30(8):1120-1131. Epub 2020 May 8 doi: 10.1089/thy.2019.0233. PMID: 32228164
Gene Panel Testing in Hereditary Breast Cancer.
Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH
Arch Iran Med 2020 Mar 1;23(3):155-162. PMID: 32126783
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E
Cancer 2019 Aug 15;125(16):2829-2836. Epub 2019 Jun 17 doi: 10.1002/cncr.32083. PMID: 31206626Free PMC Article

Therapy

Genetic mutations in smoking-associated prostate cancer.
Elshafei A, Al-Toubat M, Feibus AH, Koul K, Jazayeri SB, Lelani N, Henry V, Balaji KC
Prostate 2023 Sep;83(13):1229-1237. Epub 2023 Jul 16 doi: 10.1002/pros.24554. PMID: 37455402
Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.
Zhang Z, Duan FX, Gu GL, Yu PF
World J Gastroenterol 2020 Apr 28;26(16):1926-1937. doi: 10.3748/wjg.v26.i16.1926. PMID: 32390703Free PMC Article
Genetic alterations in quadruple malignancies of a patient with multiple sclerosis: their role in malignancy development and response to therapy.
Milosevic Z, Tanic N, Bankovic J, Stankovic T, Buta M, Lavrnic D, Milovanovic Z, Pupic G, Stojkovic S, Milinkovic V, Ito Y, Dzodic R
Int J Clin Exp Pathol 2014;7(4):1826-33. Epub 2014 Mar 15 PMID: 24817989Free PMC Article

Prognosis

Genetic mutations in smoking-associated prostate cancer.
Elshafei A, Al-Toubat M, Feibus AH, Koul K, Jazayeri SB, Lelani N, Henry V, Balaji KC
Prostate 2023 Sep;83(13):1229-1237. Epub 2023 Jul 16 doi: 10.1002/pros.24554. PMID: 37455402
Prevalence of APC and PTEN Alterations in Urachal Cancer.
Nagy N, Reis H, Hadaschik B, Niedworok C, Módos O, Szendrői A, Bíró K, Hager T, Herold T, Ablat J, Black PC, Okon K, Tolkach Y, Csizmarik A, Oláh C, Keresztes D, Bremmer F, Gaisa NT, Kriegsmann J, Kovalszky I, Kiss A, Tímár J, Szász MA, Rink M, Fisch M, Nyirády P, Szarvas T
Pathol Oncol Res 2020 Oct;26(4):2773-2781. Epub 2020 Aug 4 doi: 10.1007/s12253-020-00872-6. PMID: 32754865Free PMC Article
Gene Panel Testing in Hereditary Breast Cancer.
Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH
Arch Iran Med 2020 Mar 1;23(3):155-162. PMID: 32126783
A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.
Tricoli JV, Boardman LA, Patidar R, Sindiri S, Jang JS, Walsh WD, McGregor PM 3rd, Camalier CE, Mehaffey MG, Furman WL, Bahrami A, Williams PM, Lih CJ, Conley BA, Khan J
Cancer 2018 Mar 1;124(5):1070-1082. Epub 2017 Nov 30 doi: 10.1002/cncr.31136. PMID: 29194591Free PMC Article
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK
Hum Mutat 2016 Jul;37(7):640-52. Epub 2016 Mar 18 doi: 10.1002/humu.22972. PMID: 26898890

Clinical prediction guides

Genetic mutations in smoking-associated prostate cancer.
Elshafei A, Al-Toubat M, Feibus AH, Koul K, Jazayeri SB, Lelani N, Henry V, Balaji KC
Prostate 2023 Sep;83(13):1229-1237. Epub 2023 Jul 16 doi: 10.1002/pros.24554. PMID: 37455402
Mutational signature of extracranial meningioma metastases and their respective primary tumors.
Biczok A, Thorsteinsdottir J, Karschnia P, Ruf VC, Tonn JC, Herms J, Schichor C, Dorostkar MM
Acta Neuropathol Commun 2023 Jan 14;11(1):12. doi: 10.1186/s40478-023-01505-0. PMID: 36641486Free PMC Article
Gene Panel Testing in Hereditary Breast Cancer.
Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH
Arch Iran Med 2020 Mar 1;23(3):155-162. PMID: 32126783
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK
Hum Mutat 2016 Jul;37(7):640-52. Epub 2016 Mar 18 doi: 10.1002/humu.22972. PMID: 26898890
Mutations of the human PTEN gene.
Bonneau D, Longy M
Hum Mutat 2000;16(2):109-22. doi: 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. PMID: 10923032

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