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peutz-jeghers-syndrome
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) is caused by germline STK11/LKB1 mutations; hamartomatous GI polyps + mucocutaneous melanotic spots; cumulative cancer risk by age 70: breast 45%, CRC 39%, pancreatic 36%; intussusception risk; surveillance from age 8.
Entry Metadata
| Field | Value |
|---|---|
| ID | peutz-jeghers-syndrome |
| Name | Peutz-Jeghers Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-3215. · PubMed 16707622
- Skoulidis F, Goldberg ME, Greenawalt DM, et al. STK11/LKB1 mutations and PD-1 inhibitor resistance in KRAS-mutant lung adenocarcinoma. Cancer Cell. 2018;34(3):412-424. · PubMed 30174241