Genetics, genomics and clinical features of adenomatous polyposis

Valle L, Monahan KJ (2024) Genetic predisposition to Gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management. Lancet Gastroenterol Hepatol 9(1):68–82. https://doi.org/10.1016/S2468-1253(23)00240-6

Article  CAS  PubMed  Google Scholar 

Kinzler KW, Nilbert MC, Su LK et al (1991) Identification of FAP locus genes from chromosome 5q21. Science 253(5020):661–665. https://doi.org/10.1126/science.1651562

Article  CAS  PubMed  Google Scholar 

Nishisho I, Nakamura Y, Miyoshi Y et al (1991) Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253(5020):665–669. https://doi.org/10.1126/science.1651563

Article  CAS  PubMed  Google Scholar 

Groden J, Thliveris A, Samowitz W et al (1991) Identification and characterization of the Familial adenomatous polyposis coli gene. Cell 66(3):589–600. https://doi.org/10.1016/0092-8674(81)90021-0

Article  CAS  PubMed  Google Scholar 

Joslyn G, Carlson M, Thliveris A et al (1991) Identification of deletion mutations and three new genes at the Familial polyposis locus. Cell 66(3):601–613. https://doi.org/10.1016/0092-8674(81)90022-2

Article  CAS  PubMed  Google Scholar 

Clevers H (2006) Wnt/beta-catenin signaling in development and disease. Cell 127(3):469–480. https://doi.org/10.1016/j.cell.2006.10.018

Article  CAS  PubMed  Google Scholar 

(2012) Comprehensive molecular characterization of human colon and rectal cancer. Nature 487(7407): 330–337

Jansen AML, Goel A (2020) Mosaicism in patients with colorectal cancer or polyposis syndromes: A systematic review. Clin Gastroenterol Hepatol 18(9):1949–1960. https://doi.org/10.1016/j.cgh.2020.02.049

Article  CAS  PubMed  Google Scholar 

Spier I, Drichel D, Kerick M et al (2016) Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J Med Genet 53(3):172–179. https://doi.org/10.1136/jmedgenet-2015-103468

Article  CAS  PubMed  Google Scholar 

Aretz S, Stienen D, Friedrichs N et al (2007) Somatic APC mosaicism: a frequent cause of Familial adenomatous polyposis (FAP). Hum Mutat 28(10):985–992. https://doi.org/10.1002/humu.20549

Article  CAS  PubMed  Google Scholar 

Yen T, Stanich PP, Axell L, Patel SG (1998) [Updated 2022]) APC-Associated Polyposis Conditions. In Adam MP ED, Mirzaa GM, (ed) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023

Zaffaroni G, Mannucci A, Koskenvuo L et al (2024) Updated European guidelines for clinical management of Familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg 111(5). https://doi.org/10.1093/bjs/znae070

Knudsen AL, Bülow S, Tomlinson I et al (2010) Attenuated familial adenomatous polyposis: results from an international collaborative study. Colorectal Dis 12(10 Online): e243-9 https://doi.org/10.1111/j.1463-1318.2010.02218.x

Beck SH, Karstensen JG, Bülow S et al (2024) Cancer risks in attenuated and classical Familial adenomatous polyposis: A nationwide cohort with matched, nonexposed individuals. Am J Gastroenterol. https://doi.org/10.14309/ajg.0000000000003167

Article  PubMed  Google Scholar 

Li J, Woods SL, Healey S et al (2016) Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a Familial adenomatous polyposis variant. Am J Hum Genet 98(5):830–842. https://doi.org/10.1016/j.ajhg.2016.03.001

Article  CAS  PubMed  PubMed Central  Google Scholar 

Skat-Rørdam PA, Kaya Y, Qvist N et al (2024) Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data. Hered Cancer Clin Pract 22(1):12. https://doi.org/10.1186/s13053-024-00284-6

Article  PubMed  PubMed Central  Google Scholar 

Palles C, Cazier JB, Howarth KM et al (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45(2):136–144. https://doi.org/10.1038/ng.2503

Article  CAS  PubMed  Google Scholar 

Mur P, Viana-Errasti J, García-Mulero S et al (2023) Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1. Genome Med 15(1):85. https://doi.org/10.1186/s13073-023-01234-y

Article  PubMed  PubMed Central  Google Scholar 

Wimmer K, Beilken A, Nustede R et al (2017) A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Fam Cancer 16(1):67–71

Article  PubMed  Google Scholar 

Rosner G, Gluck N, Carmi S et al (2018) POLD1 and POLE gene mutations in Jewish cohorts of Early-Onset colorectal cancer and of multiple colorectal adenomas. Dis Colon Rectum 61(9):1073–1079. https://doi.org/10.1097/DCR.0000000000001150

Article  PubMed  Google Scholar 

Lindsay H, Scollon S, Reuther J et al (2019) Germline POLE mutation in a child with hypermutated Medulloblastoma and features of constitutional mismatch repair deficiency. Cold Spring Harb Mol Case Stud 5(5). https://doi.org/10.1101/mcs.a004499

Galati MA, Hodel KP, Gams MS et al (2020) Cancers from novel Pole-mutant mouse models provide insights into polymerase-mediated hypermutagenesis and immune checkpoint Blockade. Cancer Res 80(24):5606–5618. https://doi.org/10.1158/0008-5472.CAN-20-0624

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sehested A, Meade J, Scheie D et al (2022) Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency. Hum Mutat 43(1):85–96. https://doi.org/10.1002/humu.24299

Article  CAS  PubMed  Google Scholar 

Schamschula E, Kinzel M, Wernstedt A et al (2022) Teenage-Onset colorectal cancers in a digenic cancer predisposition syndrome provide clues for the interaction between mismatch repair and polymerase Δ proofreading deficiency in tumorigenesis. Biomolecules 12(10). https://doi.org/10.3390/biom12101350

Michaeli O, Ladany H, Erez A et al (2022) Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition. Clin Genet 101(4):442–447. https://doi.org/10.1111/cge.14106

Article  CAS  PubMed  Google Scholar 

Lammi L, Arte S, Somer M et al (2004) Mutations in AXIN2 cause Familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74(5):1043–1050. https://doi.org/10.1086/386293

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chan JM, Clendenning M, Joseland S et al (2021) Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer. Fam Cancer. https://doi.org/10.1007/s10689-021-00283-9

Article  PubMed  Google Scholar 

Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G:C–>T:A mutations in colorectal tumors. Nat Genet 30(2):227–232. https://doi.org/10.1038/ng828

Article  CAS  PubMed  Google Scholar 

Cleary SP, Cotterchio M, Jenkins MA et al (2009) Germline muty human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136(4):1251–1260. https://doi.org/10.1053/j.gastro.2008.12.050

Article  CAS  PubMed  Google Scholar 

Nielsen M, Infante E, Brand R (1993) MUTYH polyposis. In: Adam MP, Mirzaa GM, Pagon RA et al (eds) GeneReviews(®). Seattle (WA), University of Washington, Seattle. Copyright © 1993–2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved

Belhadj S, Mur P, Navarro M et al (2017) Delineating the phenotypic spectrum of the NTHL1-Associated polyposis. Clin Gastroenterol Hepatol 15(3):461–462. https://doi.org/10.1016/j.cgh.2016.09.153

Article  CAS  PubMed  Google Scholar 

Grolleman JE, de Voer RM, Elsayed FA et al (2019) Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. Cancer Cell 35(2): 256– 66.e5 https://doi.org/10.1016/j.ccell.2018.12.011

Weren RD, Ligtenberg MJ, Kets CM et al (2015) A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 47(6):668–671 https://doi.org/10.1038/ng.3287

Article  CAS  PubMed  Google Scholar 

Palles C, West HD, Chew E et al (2022) Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Am J Hum Genet 109(5):953–960. https://doi.org/10.1016/j.ajhg.2022.03.018

Article  CAS  PubMed  PubMed Central 

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