Open access
Aug 2026
The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect
It is shown that carriers should undergo cancer surveillance and predictive testing should be offered to relatives for the correct classification of MMR gene variants, and the need for an improved classification framework for appropriate categorization of lower-penetrance alleles is illustrated.
S. Horpaopan, E. Schamschula, H. Fiegl et al.
· Biomolecules · 0 citations