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An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Klin Onkol. 2019 Summer; 32(Supplementum2):97-108.KO

Abstract

BACKGROUND

It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Inclusion of next-generation sequencing technology, especially multiple-gene panel testing, in routine laboratory practice has made identifying the causes of these diseases significantly easier.

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 defined syndromes detected by multiple-gene panel next-generation sequencing; these include constitutional mismatch repair deficiency (biallelic MLH1, MSH2, MSH6, PMS2 gene mutations), gastric adenocarcinoma and proximal polyposis of the stomach (APC gene), NTHL1-associated polyposis, polymerase proofreading-associated polyposis (POLD1, POLE genes), juvenile polyposis (SMAD4, BMPR1A genes), and serrated polyposis syndromes. Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (Lynch syndrome), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN hamartoma tumor syndromes.

CONCLUSION

Awareness of hereditary polyposis/colon cancer syndromes enables early diagnosis and prevention of cancer in affected individuals and their relatives. Genetic counseling, presymptomatic testing of at-risk individuals, and efficient screening may be beneficial for affected families. Thank to Lenka Foretová, M.D., PhD, (Masaryk Memorial Cancer Institute, Brno) for a critical review of the manuscript and valuable advices. The author declares she has no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 1. 3. 2019 Accepted: 6. 6. 2019.

Authors

No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31409085

Citation

Plevová, Pavlína. "An Update On Inherited Colon Cancer and Gastrointestinal Polyposis." Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, vol. 32, no. Supplementum2, 2019, pp. 97-108.
Plevová P. An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. Klin Onkol. 2019;32(Supplementum2):97-108.
Plevová, P. (2019). An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 32(Supplementum2), 97-108. https://doi.org/10.14735/amko2019S97
Plevová P. An Update On Inherited Colon Cancer and Gastrointestinal Polyposis. Klin Onkol. 2019;32(Supplementum2):97-108. PubMed PMID: 31409085.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An Update on Inherited Colon Cancer and Gastrointestinal Polyposis. A1 - Plevová,Pavlína, PY - 2019/8/15/entrez PY - 2019/8/15/pubmed PY - 2020/1/8/medline KW - colonic polyps KW - colorectal neoplasms KW - genes KW - polyps KW - secondary prevention KW - stomach SP - 97 EP - 108 JF - Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti JO - Klin Onkol VL - 32 IS - Supplementum2 N2 - BACKGROUND: It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Inclusion of next-generation sequencing technology, especially multiple-gene panel testing, in routine laboratory practice has made identifying the causes of these diseases significantly easier. 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 defined syndromes detected by multiple-gene panel next-generation sequencing; these include constitutional mismatch repair deficiency (biallelic MLH1, MSH2, MSH6, PMS2 gene mutations), gastric adenocarcinoma and proximal polyposis of the stomach (APC gene), NTHL1-associated polyposis, polymerase proofreading-associated polyposis (POLD1, POLE genes), juvenile polyposis (SMAD4, BMPR1A genes), and serrated polyposis syndromes. Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (Lynch syndrome), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN hamartoma tumor syndromes. CONCLUSION: Awareness of hereditary polyposis/colon cancer syndromes enables early diagnosis and prevention of cancer in affected individuals and their relatives. Genetic counseling, presymptomatic testing of at-risk individuals, and efficient screening may be beneficial for affected families. Thank to Lenka Foretová, M.D., PhD, (Masaryk Memorial Cancer Institute, Brno) for a critical review of the manuscript and valuable advices. The author declares she has no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 1. 3. 2019 Accepted: 6. 6. 2019. SN - 1802-5307 UR - https://www.unboundmedicine.com/medline/citation/31409085/An_Update_on_Inherited_Colon_Cancer_and_Gastrointestinal_Polyposis_ L2 - https://www.prolekare.cz/linkout/113309 DB - PRIME DP - Unbound Medicine ER -
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