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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
The impact of APC polymorphisms on the transition from polyps to colorectal cancer (CRC).
Sa R, Song H, Wei M, Su H, Hong Y, Zhou L, Bai Y
Gene 2020 May 25;740:144486. Epub 2020 Feb 19 doi: 10.1016/j.gene.2020.144486. PMID: 32087273
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
APC gene mutations in Chinese familial adenomatous polyposis patients.
Sheng JQ, Cui WJ, Fu L, Jin P, Han Y, Li SJ, Fan RY, Li AQ, Zhang MZ, Li SR
World J Gastroenterol 2010 Mar 28;16(12):1522-6. doi: 10.3748/wjg.v16.i12.1522. PMID: 20333795Free PMC Article
Direct analysis for familial adenomatous polyposis mutations.
Powell SM
Mol Biotechnol 2002 Feb;20(2):197-207. doi: 10.1385/MB:20:2:197. PMID: 11876475

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
Aberrant methylation of APC and RARβ2 genes in breast cancer patients.
Swellam M, Abdelmaksoud MD, Sayed Mahmoud M, Ramadan A, Abdel-Moneem W, Hefny MM
IUBMB Life 2015 Jan;67(1):61-8. Epub 2015 Feb 11 doi: 10.1002/iub.1346. PMID: 25684670
Cancer genetics and their application to individualised medicine.
Liefers GJ, Tollenaar RA
Eur J Cancer 2002 May;38(7):872-9. doi: 10.1016/s0959-8049(02)00055-2. PMID: 11978511
Direct analysis for familial adenomatous polyposis mutations.
Powell SM
Mol Biotechnol 2002 Feb;20(2):197-207. doi: 10.1385/MB:20:2:197. PMID: 11876475
Germline mutation and genome instability.
Olschwang S
Eur J Cancer Prev 1999 Dec;8 Suppl 1:S33-7. PMID: 10772416

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
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
Oral interleukin-10 alleviates polyposis via neutralization of pathogenic T-regulatory cells.
Chung AY, Li Q, Blair SJ, De Jesus M, Dennis KL, LeVea C, Yao J, Sun Y, Conway TF, Virtuoso LP, Battaglia NG, Furtado S, Mathiowitz E, Mantis NJ, Khazaie K, Egilmez NK
Cancer Res 2014 Oct 1;74(19):5377-85. Epub 2014 Sep 16 doi: 10.1158/0008-5472.CAN-14-0918. PMID: 25228656Free PMC Article
Reduced level of smoothened suppresses intestinal tumorigenesis by down-regulation of Wnt signaling.
Arimura S, Matsunaga A, Kitamura T, Aoki K, Aoki M, Taketo MM
Gastroenterology 2009 Aug;137(2):629-38. Epub 2009 May 7 doi: 10.1053/j.gastro.2009.04.059. PMID: 19427313
Cancer genetics and their application to individualised medicine.
Liefers GJ, Tollenaar RA
Eur J Cancer 2002 May;38(7):872-9. doi: 10.1016/s0959-8049(02)00055-2. PMID: 11978511

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
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
Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.
González S, Blanco I, Campos O, Julià M, Reyes J, Llompart A, Cabeza E, Germà JR, Obrador A, Capellá G
Cancer Genet Cytogenet 2005 Apr 1;158(1):70-4. doi: 10.1016/j.cancergencyto.2004.07.003. PMID: 15771908
Cancer genetics and their application to individualised medicine.
Liefers GJ, Tollenaar RA
Eur J Cancer 2002 May;38(7):872-9. doi: 10.1016/s0959-8049(02)00055-2. PMID: 11978511
Identification of FAP locus genes from chromosome 5q21.
Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D
Science 1991 Aug 9;253(5020):661-5. doi: 10.1126/science.1651562. PMID: 1651562

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
CCR6, the sole receptor for the chemokine CCL20, promotes spontaneous intestinal tumorigenesis.
Nandi B, Pai C, Huang Q, Prabhala RH, Munshi NC, Gold JS
PLoS One 2014;9(5):e97566. Epub 2014 May 27 doi: 10.1371/journal.pone.0097566. PMID: 24866282Free PMC Article
Direct analysis for familial adenomatous polyposis mutations.
Powell SM
Mol Biotechnol 2002 Feb;20(2):197-207. doi: 10.1385/MB:20:2:197. PMID: 11876475
Identification of FAP locus genes from chromosome 5q21.
Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D
Science 1991 Aug 9;253(5020):661-5. doi: 10.1126/science.1651562. PMID: 1651562

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