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Polymerase proofreading-related adenomatous polyposis

MedGen UID:
51342
•Concept ID:
C0130294
•
Organic Chemical
Synonyms: N-(3-phenyl-n-propyl)-1-phenyl-2-aminopropane; PPAP; R(-)-N-(3-phenyl-n-propyl)-1-phenyl-2-aminopropane hydrochloride; R(-)PPAP
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018653
Orphanet: ORPHA447877

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolymerase proofreading-related adenomatous polyposis

Professional guidelines

PubMed

Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Zhu LH, Dong J, Li WL, Kou ZY, Yang J
Dig Dis Sci 2023 Jul;68(7):2799-2810. Epub 2023 Mar 2 doi: 10.1007/s10620-023-07890-9. PMID: 36862359Free PMC Article
Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
Ohmoto A, Yachida S, Morizane C
Int J Mol Sci 2019 Jan 29;20(3) doi: 10.3390/ijms20030561. PMID: 30699894Free PMC Article
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article

Recent clinical studies

Etiology

Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Gobert AP, Latour YL, Asim M, Barry DP, Allaman MM, Finley JL, Smith TM, McNamara KM, Singh K, Sierra JC, Delgado AG, Luis PB, Schneider C, Washington MK, Piazuelo MB, Zhao S, Coburn LA, Wilson KT
Gastroenterology 2022 Mar;162(3):813-827.e8. Epub 2021 Nov 10 doi: 10.1053/j.gastro.2021.11.005. PMID: 34767785Free PMC Article
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E
Genet Med 2020 Sep;22(9):1533-1541. Epub 2020 May 19 doi: 10.1038/s41436-020-0828-z. PMID: 32424176
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Plevová P
Klin Onkol 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. PMID: 31409085
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K
Mol Aspects Med 2019 Oct;69:10-26. Epub 2019 Mar 18 doi: 10.1016/j.mam.2019.03.001. PMID: 30862463
Expression of Notch-signaling pathway in familial adenomatous polyposis and its clinical significance.
Xie ZY, Gong LB, Zhang WT, Lv XP
Eur Rev Med Pharmacol Sci 2014;18(21):3183-8. PMID: 25487926

Diagnosis

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P, Viana-Errasti J, García-Mulero S, Magraner-Pardo L, Muñoz IG, Pons T, Capellá G, Pineda M, Feliubadaló L, Valle L
Genome Med 2023 Oct 17;15(1):85. doi: 10.1186/s13073-023-01234-y. PMID: 37848928Free PMC Article
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Zhu LH, Dong J, Li WL, Kou ZY, Yang J
Dig Dis Sci 2023 Jul;68(7):2799-2810. Epub 2023 Mar 2 doi: 10.1007/s10620-023-07890-9. PMID: 36862359Free PMC Article
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Plevová P
Klin Onkol 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. PMID: 31409085
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, Capellá G, Valle L
Hum Mutat 2019 Nov;40(11):1910-1923. Epub 2019 Jul 29 doi: 10.1002/humu.23853. PMID: 31243857
The role of inherited genetic variants in colorectal polyposis syndromes.
Short E, Sampson J
Adv Genet 2019;103:183-217. Epub 2019 Jan 22 doi: 10.1016/bs.adgen.2018.11.002. PMID: 30904095

Therapy

Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Gobert AP, Latour YL, Asim M, Barry DP, Allaman MM, Finley JL, Smith TM, McNamara KM, Singh K, Sierra JC, Delgado AG, Luis PB, Schneider C, Washington MK, Piazuelo MB, Zhao S, Coburn LA, Wilson KT
Gastroenterology 2022 Mar;162(3):813-827.e8. Epub 2021 Nov 10 doi: 10.1053/j.gastro.2021.11.005. PMID: 34767785Free PMC Article
Aspirin Reduces Colorectal Tumor Development in Mice and Gut Microbes Reduce its Bioavailability and Chemopreventive Effects.
Zhao R, Coker OO, Wu J, Zhou Y, Zhao L, Nakatsu G, Bian X, Wei H, Chan AWH, Sung JJY, Chan FKL, El-Omar E, Yu J
Gastroenterology 2020 Sep;159(3):969-983.e4. Epub 2020 May 6 doi: 10.1053/j.gastro.2020.05.004. PMID: 32387495
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Hereditary cancer syndromes as model systems for chemopreventive agent development.
Walcott FL, Patel J, Lubet R, Rodriguez L, Calzone KA
Semin Oncol 2016 Feb;43(1):134-145. Epub 2015 Sep 7 doi: 10.1053/j.seminoncol.2015.09.015. PMID: 26970132Free PMC Article
Molecular mechanism of adenomatous polyposis coli-induced blockade of base excision repair pathway in colorectal carcinogenesis.
Narayan S, Sharma R
Life Sci 2015 Oct 15;139:145-52. Epub 2015 Sep 1 doi: 10.1016/j.lfs.2015.08.019. PMID: 26334567Free PMC Article

Prognosis

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P, Viana-Errasti J, García-Mulero S, Magraner-Pardo L, Muñoz IG, Pons T, Capellá G, Pineda M, Feliubadaló L, Valle L
Genome Med 2023 Oct 17;15(1):85. doi: 10.1186/s13073-023-01234-y. PMID: 37848928Free PMC Article
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Zhu LH, Dong J, Li WL, Kou ZY, Yang J
Dig Dis Sci 2023 Jul;68(7):2799-2810. Epub 2023 Mar 2 doi: 10.1007/s10620-023-07890-9. PMID: 36862359Free PMC Article
POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
Magrin L, Fanale D, Brando C, Fiorino A, Corsini LR, Sciacchitano R, Filorizzo C, Dimino A, Russo A, Bazan V
Oncogene 2021 Oct;40(40):5893-5901. Epub 2021 Aug 6 doi: 10.1038/s41388-021-01984-2. PMID: 34363023
Role of POLE and POLD1 in familial cancer.
Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L
Genet Med 2020 Dec;22(12):2089-2100. Epub 2020 Aug 14 doi: 10.1038/s41436-020-0922-2. PMID: 32792570Free PMC Article
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, Capellá G, Valle L
Hum Mutat 2019 Nov;40(11):1910-1923. Epub 2019 Jul 29 doi: 10.1002/humu.23853. PMID: 31243857

Clinical prediction guides

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P, Viana-Errasti J, García-Mulero S, Magraner-Pardo L, Muñoz IG, Pons T, Capellá G, Pineda M, Feliubadaló L, Valle L
Genome Med 2023 Oct 17;15(1):85. doi: 10.1186/s13073-023-01234-y. PMID: 37848928Free PMC Article
Role of POLE and POLD1 in familial cancer.
Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L
Genet Med 2020 Dec;22(12):2089-2100. Epub 2020 Aug 14 doi: 10.1038/s41436-020-0922-2. PMID: 32792570Free PMC Article
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E
Genet Med 2020 Sep;22(9):1533-1541. Epub 2020 May 19 doi: 10.1038/s41436-020-0828-z. PMID: 32424176
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, Capellá G, Valle L
Hum Mutat 2019 Nov;40(11):1910-1923. Epub 2019 Jul 29 doi: 10.1002/humu.23853. PMID: 31243857
Nuclear APC.
Neufeld KL
Adv Exp Med Biol 2009;656:13-29. doi: 10.1007/978-1-4419-1145-2_2. PMID: 19928349Free PMC Article

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