Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome
Lynch syndrome (LS) is an autosomal dominant inherited cancer predisposition disorder, which may manifest as colorectal cancer (CRC), endometrial cancer (EC) or other malignancies of the gastrointestinal and genitourinary tract as well as the skin and brain. Its genetic cause is a defect in one of t...
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MDPI AG
2022-04-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/8/4284 |
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| author | Gergely Buglyó Jakub Styk Ondrej Pös Ádám Csók Vanda Repiska Beáta Soltész Tomas Szemes Bálint Nagy |
| author_facet | Gergely Buglyó Jakub Styk Ondrej Pös Ádám Csók Vanda Repiska Beáta Soltész Tomas Szemes Bálint Nagy |
| author_sort | Gergely Buglyó |
| collection | DOAJ |
| description | Lynch syndrome (LS) is an autosomal dominant inherited cancer predisposition disorder, which may manifest as colorectal cancer (CRC), endometrial cancer (EC) or other malignancies of the gastrointestinal and genitourinary tract as well as the skin and brain. Its genetic cause is a defect in one of the four key DNA mismatch repair (MMR) loci. Testing of patients at risk is currently based on the absence of MMR protein staining and detection of mutations in cancer tissue and the germline, microsatellite instability (MSI) and the hypermethylated state of the MLH1 promoter. If LS is shown to have caused CRC, lifetime follow-up with regular screening (most importantly, colonoscopy) is required. In recent years, DNA and RNA markers extracted from liquid biopsies have found some use in the clinical diagnosis of LS. They have the potential to greatly enhance the efficiency of the follow-up process by making it minimally invasive, reproducible, and time effective. Here, we review markers reported in the literature and their current clinical applications, and we comment on possible future directions. |
| first_indexed | 2024-03-09T10:34:08Z |
| format | Article |
| id | doaj.art-6cbe8811f5284e3c8f750ca1695b75a2 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T10:34:08Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-6cbe8811f5284e3c8f750ca1695b75a22023-12-01T21:03:43ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-04-01238428410.3390/ijms23084284Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch SyndromeGergely Buglyó0Jakub Styk1Ondrej Pös2Ádám Csók3Vanda Repiska4Beáta Soltész5Tomas Szemes6Bálint Nagy7Department of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, 811 08 Bratislava, SlovakiaComenius University Science Park, Comenius University, 841 04 Bratislava, SlovakiaDepartment of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, 811 08 Bratislava, SlovakiaDepartment of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryComenius University Science Park, Comenius University, 841 04 Bratislava, SlovakiaDepartment of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, HungaryLynch syndrome (LS) is an autosomal dominant inherited cancer predisposition disorder, which may manifest as colorectal cancer (CRC), endometrial cancer (EC) or other malignancies of the gastrointestinal and genitourinary tract as well as the skin and brain. Its genetic cause is a defect in one of the four key DNA mismatch repair (MMR) loci. Testing of patients at risk is currently based on the absence of MMR protein staining and detection of mutations in cancer tissue and the germline, microsatellite instability (MSI) and the hypermethylated state of the MLH1 promoter. If LS is shown to have caused CRC, lifetime follow-up with regular screening (most importantly, colonoscopy) is required. In recent years, DNA and RNA markers extracted from liquid biopsies have found some use in the clinical diagnosis of LS. They have the potential to greatly enhance the efficiency of the follow-up process by making it minimally invasive, reproducible, and time effective. Here, we review markers reported in the literature and their current clinical applications, and we comment on possible future directions.https://www.mdpi.com/1422-0067/23/8/4284lynch syndromecolorectal cancerscreeningliquid biopsycirculating nucleic acidsbiomarker |
| spellingShingle | Gergely Buglyó Jakub Styk Ondrej Pös Ádám Csók Vanda Repiska Beáta Soltész Tomas Szemes Bálint Nagy Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome International Journal of Molecular Sciences lynch syndrome colorectal cancer screening liquid biopsy circulating nucleic acids biomarker |
| title | Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome |
| title_full | Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome |
| title_fullStr | Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome |
| title_full_unstemmed | Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome |
| title_short | Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome |
| title_sort | liquid biopsy as a source of nucleic acid biomarkers in the diagnosis and management of lynch syndrome |
| topic | lynch syndrome colorectal cancer screening liquid biopsy circulating nucleic acids biomarker |
| url | https://www.mdpi.com/1422-0067/23/8/4284 |
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