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Condition report · Cancer

Peutz-Jeghers Syndrome

An inherited condition caused by variants in STK11 that leads to hamartomatous polyps in the digestive tract, dark freckling of the lips and mouth, and a raised lifetime risk of several cancers.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Peutz-Jeghers syndrome

Autosomal dominant · About 1 in 25,000 to 1 in 280,000 people

Hamartomatous gastrointestinal polyposis with mucocutaneous pigmentation and increased risk of gastrointestinal, breast, pancreatic and gynaecological cancers.

What a diagnosis changes

Surveillance endoscopy from childhood, breast, pancreatic and gynaecological screening in adulthood, and testing of relatives.

Genes analysed

Also known as

hamartomatous intestinal polyposis; lentiginosis, perioral; periorificial lentiginosis syndrome; Peutz Jeghers polyposis; Peutz's syndrome; PJS; polyps and spots syndrome; STK11-related Peutz-Jeghers syndrome

MONDO:0008280OMIM 175200Orphanet 2869MedGen 18404

Example variants this report looks at

For each condition, a few of the variants ClinVar classifies under it, those with most review stars. Each page describes ClinVar's public record of the variant, never a result.

VariantGeneClinVar classificationReview status
c.180C>ASTK11Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.180delSTK11Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.290+1G>ASTK11Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

65 more variants under Peutz-Jeghers syndrome have a page. Every variant, by gene:

Limitations

  • Large deletions of one or more STK11 exons, which cause a share of cases, need copy-number analysis and may not be detected.

Other cancer conditions

All conditions →

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