Tags

Type your tag names separated by a space and hit enter

Mismatch repair deficiency testing in clinical practice.
Expert Rev Mol Diagn 2016; 16(5):591-604ER

Abstract

Lynch syndrome, an autosomal dominant inherited disorder, is caused by inactivating mutations involving DNA mismatch repair (MMR) genes. This leads to profound genetic instability, including microsatellite instability (MSI) and increased risk for cancer development, particularly colon and endometrial malignancies. Clinical testing of tumor tissues for the presence of MMR gene deficiency is standard practice in clinical oncology, with immunohistochemistry and PCR-based microsatellite instability analysis used as screening tests to identify potential Lynch syndrome families. The ultimate diagnosis of Lynch syndrome requires documentation of mutation within one of the four MMR genes (MLH1, PMS2, MSH2 and MSH6) or EPCAM, currently achieved by comprehensive sequencing analysis of germline DNA. In this review, the genetic basis of Lynch syndrome, methodologies of MMR deficiency testing, and current diagnostic algorithms in the clinical management of Lynch syndrome, are discussed.

Authors+Show Affiliations

a Department of Pathology, School of Medicine , Yale University , New Haven , CT , USA.b Genentech Inc ., San Francisco , CA , USA.a Department of Pathology, School of Medicine , Yale University , New Haven , CT , USA.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

26895074

Citation

Buza, Natalia, et al. "Mismatch Repair Deficiency Testing in Clinical Practice." Expert Review of Molecular Diagnostics, vol. 16, no. 5, 2016, pp. 591-604.
Buza N, Ziai J, Hui P. Mismatch repair deficiency testing in clinical practice. Expert Rev Mol Diagn. 2016;16(5):591-604.
Buza, N., Ziai, J., & Hui, P. (2016). Mismatch repair deficiency testing in clinical practice. Expert Review of Molecular Diagnostics, 16(5), pp. 591-604. doi:10.1586/14737159.2016.1156533.
Buza N, Ziai J, Hui P. Mismatch Repair Deficiency Testing in Clinical Practice. Expert Rev Mol Diagn. 2016;16(5):591-604. PubMed PMID: 26895074.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mismatch repair deficiency testing in clinical practice. AU - Buza,Natalia, AU - Ziai,James, AU - Hui,Pei, Y1 - 2016/03/10/ PY - 2016/2/20/entrez PY - 2016/2/20/pubmed PY - 2016/12/21/medline KW - Colorectal and Endometrial cancers KW - DNA mismatch repair gene KW - Lynch syndrome KW - Microsatellite instability SP - 591 EP - 604 JF - Expert review of molecular diagnostics JO - Expert Rev. Mol. Diagn. VL - 16 IS - 5 N2 - Lynch syndrome, an autosomal dominant inherited disorder, is caused by inactivating mutations involving DNA mismatch repair (MMR) genes. This leads to profound genetic instability, including microsatellite instability (MSI) and increased risk for cancer development, particularly colon and endometrial malignancies. Clinical testing of tumor tissues for the presence of MMR gene deficiency is standard practice in clinical oncology, with immunohistochemistry and PCR-based microsatellite instability analysis used as screening tests to identify potential Lynch syndrome families. The ultimate diagnosis of Lynch syndrome requires documentation of mutation within one of the four MMR genes (MLH1, PMS2, MSH2 and MSH6) or EPCAM, currently achieved by comprehensive sequencing analysis of germline DNA. In this review, the genetic basis of Lynch syndrome, methodologies of MMR deficiency testing, and current diagnostic algorithms in the clinical management of Lynch syndrome, are discussed. SN - 1744-8352 UR - https://www.unboundmedicine.com/medline/citation/26895074/Mismatch_repair_deficiency_testing_in_clinical_practice_ L2 - http://www.tandfonline.com/doi/full/10.1586/14737159.2016.1156533 DB - PRIME DP - Unbound Medicine ER -