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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
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
Current applications of genetic technology in predisposition testing and microsatellite instability assays.
Frazier ML, Su LK, Amos CI, Lynch PM
J Clin Oncol 2000 Nov 1;18(21 Suppl):70S-4S. PMID: 11060331

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
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
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
The involvement of endoplasmic reticulum stress in the suppression of colorectal tumorigenesis by tolfenamic acid.
Zhang X, Lee SH, Min KW, McEntee MF, Jeong JB, Li Q, Baek SJ
Cancer Prev Res (Phila) 2013 Dec;6(12):1337-47. Epub 2013 Oct 8 doi: 10.1158/1940-6207.CAPR-13-0220. PMID: 24104354Free PMC Article
Germline mutation and genome instability.
Olschwang S
Eur J Cancer Prev 1999 Dec;8 Suppl 1:S33-7. PMID: 10772416

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
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
Germline mutation and genome instability.
Olschwang S
Eur J Cancer Prev 1999 Dec;8 Suppl 1:S33-7. PMID: 10772416
The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region.
Mori T, Nagase H, Aoki T, Arakawa H, Nishihira T, Mori S, Nakamura Y
Hum Mutat 1993;2(3):240-3. doi: 10.1002/humu.1380020315. PMID: 8103406

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
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
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
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
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
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 and characterization of the familial adenomatous polyposis coli gene.
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M
Cell 1991 Aug 9;66(3):589-600. doi: 10.1016/0092-8674(81)90021-0. PMID: 1651174

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
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
Multiple forms of the APC gene transcripts and their tissue-specific expression.
Horii A, Nakatsuru S, Ichii S, Nagase H, Nakamura Y
Hum Mol Genet 1993 Mar;2(3):283-7. doi: 10.1093/hmg/2.3.283. PMID: 8388766
Identification and characterization of the familial adenomatous polyposis coli gene.
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M
Cell 1991 Aug 9;66(3):589-600. doi: 10.1016/0092-8674(81)90021-0. PMID: 1651174

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