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001-es BibID:	BIBFORM101421
035-os BibID:	(cikkazonosító)4284 (scopus)85128130388 (wos)000785465100001
Első szerző:	Buglyó Gergely (genetikus)
Cím:	Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome / Gergely Buglyó, Jakub Styk, Ondrej Pös, Ádám Csók, Vanda Repiska, Beáta Soltész, Tomas Szemes, Bálint Nagy
Dátum:	2022
ISSN:	1661-6596 1422-0067
Megjegyzések:	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.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Lynch syndrome colorectal cancer screening liquid biopsy circulating nucleic acids biomarker
Megjelenés:	International Journal Of Molecular Sciences. - 23 : 8 (2022), p. 4284. -
További szerzők:	Styk, Jakub Pös, Ondrej (1990-) (biológus) Csók Ádám (1994-) (biológus) Repiska Vanda Soltész Beáta (1987-) (molekuláris biológus) Szemes, Tomas (1980-) (biológus) Nagy Bálint (1956-) (molekuláris genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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