What a test can show
STK11 sequencing and CNV analysis combined with clinical criteria.
Monogenic conditions
STK11Peutz–Jeghers syndrome
Pathogenic germline variants are linked to characteristic polyps, pigmentation and increased tumour risks.
RELATIONSHIP VALIDITYHigh: established causality
ACTIONABILITYHigh after clinical confirmation
SOURCE CHECKLinks and claim boundaries are editorially checked; external expert review is stated only with named disclosure
Practical meaning
Genetic confirmation can organise systematic surveillance and family testing.
Where knowledge ends
A somatic STK11 mutation in lung cancer has a different meaning and does not confirm Peutz–Jeghers syndrome.
SOURCES AND VERSION
Verifiable, not ‘trust us’.
Updated: 14 August 2026. Any clinical interpretation requires the exact variant, testing method, family information and medical context.