Tags

Type your tag names separated by a space and hit enter

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.
J Hum Genet. 2010 Jan; 55(1):37-41.JH

Abstract

Mutations in mismatch repair genes lead to Lynch Syndrome, the most common form of inherited colorectal cancer. In this report, we describe a novel complex germline mutation c.[1601_1661+92dup; 1591_1611del] of the mismatch repair gene, MSH2. This mutation, which segregates with the disease phenotype, was discovered in a Lynch syndrome kindred that also shows a history of the Muir-Torre syndrome. Interestingly, several tumors from this family displayed microsatellite instability, a hallmark of Lynch syndrome tumors but no consistent, concomitant loss of MSH2 protein expression. In addition, a subset of tumors showed neither prototypical feature of microsatellite instability nor immunohistochemistry deficiency, highlighting the importance of a detailed molecular analysis of rare genetic alterations. This mutation and the atypical clinical manifestations observed underscore the genetic complexity underlying Lynch syndrome, and the importance of comprehensive molecular screening in the diagnosis and early detection of colorectal and other associated cancers.

Authors+Show Affiliations

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19911012

Citation

Perera, Sheron, et al. "A Novel Complex Mutation in MSH2 Contributes to Both Muir-Torre and Lynch Syndrome." Journal of Human Genetics, vol. 55, no. 1, 2010, pp. 37-41.
Perera S, Ramyar L, Mitri A, et al. A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome. J Hum Genet. 2010;55(1):37-41.
Perera, S., Ramyar, L., Mitri, A., Pollett, A., Gallinger, S., Speevak, M. D., Aronson, M., & Bapat, B. (2010). A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome. Journal of Human Genetics, 55(1), 37-41. https://doi.org/10.1038/jhg.2009.119
Perera S, et al. A Novel Complex Mutation in MSH2 Contributes to Both Muir-Torre and Lynch Syndrome. J Hum Genet. 2010;55(1):37-41. PubMed PMID: 19911012.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome. AU - Perera,Sheron, AU - Ramyar,Lily, AU - Mitri,Angie, AU - Pollett,Aaron, AU - Gallinger,Steven, AU - Speevak,Marsha D, AU - Aronson,Melyssa, AU - Bapat,Bharati, Y1 - 2009/11/13/ PY - 2009/11/14/entrez PY - 2009/11/17/pubmed PY - 2010/4/7/medline SP - 37 EP - 41 JF - Journal of human genetics JO - J Hum Genet VL - 55 IS - 1 N2 - Mutations in mismatch repair genes lead to Lynch Syndrome, the most common form of inherited colorectal cancer. In this report, we describe a novel complex germline mutation c.[1601_1661+92dup; 1591_1611del] of the mismatch repair gene, MSH2. This mutation, which segregates with the disease phenotype, was discovered in a Lynch syndrome kindred that also shows a history of the Muir-Torre syndrome. Interestingly, several tumors from this family displayed microsatellite instability, a hallmark of Lynch syndrome tumors but no consistent, concomitant loss of MSH2 protein expression. In addition, a subset of tumors showed neither prototypical feature of microsatellite instability nor immunohistochemistry deficiency, highlighting the importance of a detailed molecular analysis of rare genetic alterations. This mutation and the atypical clinical manifestations observed underscore the genetic complexity underlying Lynch syndrome, and the importance of comprehensive molecular screening in the diagnosis and early detection of colorectal and other associated cancers. SN - 1435-232X UR - https://www.unboundmedicine.com/medline/citation/19911012/A_novel_complex_mutation_in_MSH2_contributes_to_both_Muir_Torre_and_Lynch_Syndrome_ L2 - http://www.diseaseinfosearch.org/result/3972 DB - PRIME DP - Unbound Medicine ER -