For instance, a 1.8 kb enhancer of MLH1 expression, positioned 35 kb upstream of the transcription start site, has been shown to contain a single nucleotide variant (rs143969848) capable of disrupting enhancer function that was found in 5.4% (4/74) of patients suspected to carry (based on tumour analysis), but lacking, a germline pathogenic MLH1 variant [95]. The gene discussed is MLH1; the disease is neoplasm.