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Is Peutz-Jeghers Syndrome Genetic?

Yes
Heritability
~95%
Inheritance
autosomal-dominant
Key genes
STK11

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Peutz-Jeghers syndrome causes gastrointestinal polyps and skin pigmentation spots with significantly elevated cancer risks at multiple sites.

How Genetic Is Peutz-Jeghers Syndrome?

Peutz-Jeghers Syndrome has a strong genetic basis. Research estimates heritability at approximately 95%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.

Key genes associated with Peutz-Jeghers Syndrome: STK11. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.

Source: MedlinePlus Genetics

Does Family History Matter for Peutz-Jeghers Syndrome?

Yes — family history is one of the strongest predictors of Peutz-Jeghers Syndrome. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.

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