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Year Number of Results
2014 2
2015 1
2016 1
2017 1
2018 1
2019 4
2020 1
2022 2
2024 0

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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 …
Genomic landscape of colorectal carcinogenesis.
Kim JC, Bodmer WF. Kim JC, et al. J Cancer Res Clin Oncol. 2022 Mar;148(3):533-545. doi: 10.1007/s00432-021-03888-w. Epub 2022 Jan 20. J Cancer Res Clin Oncol. 2022. PMID: 35048197 Review.
Otherwise, recently verified FCRC can be particularly notable, for example, EPCAM-associated Lynch syndrome, polymerase proofreading-associated polyposis, RNF43-associated polyposis syndrome or NTHL1 tumour syndrome, and hereditary …
Otherwise, recently verified FCRC can be particularly notable, for example, EPCAM-associated Lynch syndrome, polymerase pro
Current clinical topics of Lynch syndrome.
Tanakaya K. Tanakaya K. Int J Clin Oncol. 2019 Sep;24(9):1013-1019. doi: 10.1007/s10147-018-1282-7. Epub 2018 May 9. Int J Clin Oncol. 2019. PMID: 29744602 Review.
Next-generation sequencing methods have revealed several conditions with phenotypes similar to LS, such as Lynch-like syndrome, constitutional mismatch repair deficiency syndrome, and polymerase proofreading-associated polyposis. Distinguishing LS from …
Next-generation sequencing methods have revealed several conditions with phenotypes similar to LS, such as Lynch-like syndrome, constitution …
Replicative DNA polymerase mutations in cancer.
Heitzer E, Tomlinson I. Heitzer E, et al. Curr Opin Genet Dev. 2014 Feb;24(100):107-13. doi: 10.1016/j.gde.2013.12.005. Epub 2014 Feb 26. Curr Opin Genet Dev. 2014. PMID: 24583393 Free PMC article. Review.
Three DNA polymerases - Pol alpha, Pol delta and Pol e - are essential for DNA replication. ...Recently, we identified germline exonuclease domain mutations (EDMs) in human POLD1 and POLE that predispose to 'polymerase proofreading associated polypo
Three DNA polymerases - Pol alpha, Pol delta and Pol e - are essential for DNA replication. ...Recently, we identified germline exonu …
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 polyp
Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adenomat …
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 disease with …
Mendelian syndromes account for about 5% of the total burden of CRC, with Lynch syndrome and familial adenomatous polyposis the most …
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM. Carethers JM, et al. World J Gastroenterol. 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. World J Gastroenterol. 2015. PMID: 26309352 Free PMC article. Review.
Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions …
Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role …
[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 made t …
Due to the advances in molecular genetic diagnostics of adenomatous polyposis variants, identification of patients with a genetic pre …
An update on the CNS manifestations of brain tumor polyposis syndromes.
Kim B, Tabori U, Hawkins C. Kim B, et al. Acta Neuropathol. 2020 Apr;139(4):703-715. doi: 10.1007/s00401-020-02124-y. Epub 2020 Jan 22. Acta Neuropathol. 2020. PMID: 31970492 Review.
Cancer predisposition syndromes are associated with an increased risk of developing primary malignancies. ...The former include constitutional mismatch repair deficiency (CMMRD) syndrome, Li-Fraumeni syndrome (LFS), and Cowden syndrome (CS) while the latter include familia …
Cancer predisposition syndromes are associated with an increased risk of developing primary malignancies. ...The former include const …
12 results