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The following term was not found in PubMed: proofreading-related
Page 1
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. Valle L, et al. Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18. Mol Aspects Med. 2019. PMID: 30862463 Free article. Review.
The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary cancer genes found mutated in CRC patients, strat …
The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main th …
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. Magrin L, et al. Oncogene. 2021 Oct;40(40):5893-5901. doi: 10.1038/s41388-021-01984-2. Epub 2021 Aug 6. Oncogene. 2021. PMID: 34363023 Review.
Although the prevalence of germline monoallelic POLE/POLD1 and biallelic NTHL1 pathogenic variants is low, they determine different phenotypes with a broad tumor spectrum overlapping that of other hereditary conditions like Lynch Syndrome or Familial Adenomatous Polypos
Although the prevalence of germline monoallelic POLE/POLD1 and biallelic NTHL1 pathogenic variants is low, they determine different phenotyp …
Nuclear APC.
Neufeld KL. Neufeld KL. Adv Exp Med Biol. 2009;656:13-29. doi: 10.1007/978-1-4419-1145-2_2. Adv Exp Med Biol. 2009. PMID: 19928349 Free PMC article. Review.
Mutational inactivation of the tumor suppressor gene APC (Adenomatous polyposis coli) is thought to be an initiating step in the progression of the vast majority ofcolorectal cancers. ...Additional nuclear binding partners for APC include transcription factor …
Mutational inactivation of the tumor suppressor gene APC (Adenomatous polyposis coli) is thought to be an initiating st …
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Zhu LH, Dong J, Li WL, Kou ZY, Yang J. Zhu LH, et al. Dig Dis Sci. 2023 Jul;68(7):2799-2810. doi: 10.1007/s10620-023-07890-9. Epub 2023 Mar 2. Dig Dis Sci. 2023. PMID: 36862359 Free PMC article. Review.
The most prevalent type of intestinal polyposis, colorectal adenomatous polyposis (CAP), is regarded as a precancerous lesion of colorectal cancer with obvious genetic characteristics. Early screening and intervention can significantly improve patients' survi …
The most prevalent type of intestinal polyposis, colorectal adenomatous polyposis (CAP), is regarded as a precancerous …
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. Matsubayashi H, et al. World J Gastroenterol. 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. World J Gastroenterol. 2017. PMID: 28246467 Free PMC article. Review.
Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC exc …
Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lync …
The role of inherited genetic variants in colorectal polyposis syndromes.
Short E, Sampson J. Short E, et al. Adv Genet. 2019;103:183-217. doi: 10.1016/bs.adgen.2018.11.002. Epub 2019 Jan 22. Adv Genet. 2019. PMID: 30904095 Review.
Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP …
Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adeno
An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Plevová P. Plevová P. Klin Onkol. 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. Klin Onkol. 2019. PMID: 31409085 Review. English.
PURPOSE: To summarize current knowledge of the causes, clinical manifestations, diagnostic criteria, and recommendations for presymptomatic screening of individuals at risk of hereditary gastrointestinal polyposis and colorectal cancer syndromes. We dicuss currently define …
PURPOSE: To summarize current knowledge of the causes, clinical manifestations, diagnostic criteria, and recommendations for presymptomatic …
New genes emerging for colorectal cancer predisposition.
Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, Beltrán S, Abulí A, Muñoz J, Balaguer F, Ocaña T, Castells A, Piqué JM, Carracedo A, Ruiz-Ponte C, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. Esteban-Jurado C, et al. World J Gastroenterol. 2014 Feb 28;20(8):1961-71. doi: 10.3748/wjg.v20.i8.1961. World J Gastroenterol. 2014. PMID: 24587672 Free PMC article. Review.
Mendelian syndromes account for about 5% of the total burden of CRC, with Lynch syndrome and familial adenomatous polyposis the most common forms. Excluding hereditary forms, there is an important fraction of CRC cases that present familial aggregation for the disea …
Mendelian syndromes account for about 5% of the total burden of CRC, with Lynch syndrome and familial adenomatous polyposis th …
[Surgical aspects of indications and techniques for adenomatous polyposis variants].
Möslein G. Möslein G. Chirurg. 2016 Aug;87(8):709-22. doi: 10.1007/s00104-016-0217-y. Chirurg. 2016. PMID: 27339646 Review. German.
Due to the advances in molecular genetic diagnostics of adenomatous polyposis variants, identification of patients with a genetic predisposition and their at risk relatives is becoming increasingly important in clinical practice. ...In this article reference will be …
Due to the advances in molecular genetic diagnostics of adenomatous polyposis variants, identification of patients with a gene …
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. Terradas M, et al. Hum Mutat. 2019 Nov;40(11):1910-1923. doi: 10.1002/humu.23853. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31243857 Review.
Technological advances have allowed the identification of new adenomatous and serrated polyposis genes, and of several candidate genes that require additional supporting evidence of causality. Through an exhaustive literature review and mutational screening of 177 u …
Technological advances have allowed the identification of new adenomatous and serrated polyposis genes, and of several candida …
33 results