Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome

Diagnostics

Tomasz Kolenda¹  Andrzej Mackiewicz¹  Joanna Sobocińska¹  Magda Kopczyńska¹  Anna Przybyła¹  Elżbieta Bogajewska-Ryłko²  Violetta Filas²  Anna Teresiak³  Katarzyna Lamperska³  Kacper Guglas³  Natalia Badziąg-Leśniak⁴ 

[1] Department of Cancer Immunology, Chair of Medical Biotechnology, Poznan University of Medical Sciences, 8 Rokietnicka Street, 60-806 Poznan, Poland;Department of Tumor Pathology and Prophylaxis, Poznan University of Medical Sciences, Greater Poland Cancer Centre, 15 Garbary Street, 61-866 Poznan, Poland;Laboratory of Cancer Genetics, Greater Poland Cancer Centre, 15 Garbary Street, 61-866 Poznan, Poland;Oncological Genetics Clinic, Greater Poland Cancer Centre, 15 Garbary Street, 61-866 Poznan, Poland;

关键词: Lynch syndrome;    hereditary cancer;    colorectal cancer;    MMR;    diagnostics;    IHC;   

DOI  :  10.3390/diagnostics10100786

来源: DOAJ

【 摘 要 】

Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a disorder caused by an autosomal dominant heterozygous germline mutation in one of the DNA mismatch repair (MMR) genes. Individuals with LS are at an increased risk of developing colorectal and extracolonic cancers, such as endometrial, small bowel, or ovarian. In this review, the mutations involved with LS and their diagnostic methods are described and compared, as are their current uses in clinical decision making. Nowadays, LS diagnosis is based on a review of family medical history, and when necessary, microsatellite instability (MSI) or/and immunohistochemistry (IHC) analyses should be performed. In the case of a lack of MMR protein expression (dMMR) or MSI-H (MSI-High) detection in tumor tissue, molecular genetic testing can be undertaken. More and more genetic testing for LS is based mainly on next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA), which provide better and quicker information about the molecular profile of patients as well as individuals at risk. Testing based on these two methods should be the standard and commonly used. The identification of individuals with mutations provides opportunities for the detection of cancer at an early stage as well as the introduction of proper, more effective treatment, which will result in increased patient survival and reduced costs of medical care.

【 授权许可】

Unknown