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Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
World J Gastroenterol 2015; 21(31):9253-61WJ

Abstract

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 associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management.

Authors+Show Affiliations

John M Carethers, Elena M Stoffel, Division of Gastroenterology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109-5368, United States.John M Carethers, Elena M Stoffel, Division of Gastroenterology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109-5368, United States.

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

26309352

Citation

Carethers, John M., and Elena M. Stoffel. "Lynch Syndrome and Lynch Syndrome Mimics: the Growing Complex Landscape of Hereditary Colon Cancer." World Journal of Gastroenterology, vol. 21, no. 31, 2015, pp. 9253-61.
Carethers JM, Stoffel EM. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer. World J Gastroenterol. 2015;21(31):9253-61.
Carethers, J. M., & Stoffel, E. M. (2015). Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer. World Journal of Gastroenterology, 21(31), pp. 9253-61. doi:10.3748/wjg.v21.i31.9253.
Carethers JM, Stoffel EM. Lynch Syndrome and Lynch Syndrome Mimics: the Growing Complex Landscape of Hereditary Colon Cancer. World J Gastroenterol. 2015 Aug 21;21(31):9253-61. PubMed PMID: 26309352.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer. AU - Carethers,John M, AU - Stoffel,Elena M, PY - 2015/05/09/received PY - 2015/06/13/revised PY - 2015/07/08/accepted PY - 2015/8/27/entrez PY - 2015/8/27/pubmed PY - 2016/10/8/medline KW - Constitutional mismatch repair deficiency syndrome KW - DNA mismatch repair KW - Familial colorectal cancer KW - Familial colorectal cancer type X KW - Hereditary colorectal cancer KW - Hereditary non-polyposis colorectal cancer KW - Lynch syndrome KW - Lynch-like syndrome KW - Microsatellite instability SP - 9253 EP - 61 JF - World journal of gastroenterology JO - World J. Gastroenterol. VL - 21 IS - 31 N2 - 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 associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management. SN - 2219-2840 UR - https://www.unboundmedicine.com/medline/citation/26309352/Lynch_syndrome_and_Lynch_syndrome_mimics:_The_growing_complex_landscape_of_hereditary_colon_cancer_ L2 - http://www.wjgnet.com/1007-9327/full/v21/i31/9253.htm DB - PRIME DP - Unbound Medicine ER -