ArticleCroatian medical journal2012
A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.
Article in Croatian medical journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Genetic Landscape of Lynch Syndrome in a High-Risk Serbian Cohort: Predominance ofInternational journal of molecular sciences · 2026Article
- NovelFrontiers in medicine · 2026Article
- Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.Balkan journal of medical genetics : BJMG · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS).
methodsWe analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia.
resultsWe performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of MLH1(S131X) was identified as the underlying genetic cause of LS in three families. The haplotype analysis suggested a founder effect of this mutation in our population.
conclusionWe expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry.
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