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Relative frequency and morphology of cancers in STK11 mutation carriers
- Source :
- Gastroenterology; June 2004, Vol. 126 Issue: 7 p1788-1794, 7p
- Publication Year :
- 2004
-
Abstract
- Background & Aims: There is limited data on the spectrum and risk for cancer associated with germline serine/threonine protein kinase 11 (STK11) mutations that cause Peutz-Jeghers syndrome (PJS). Methods: We analyzed the incidence of cancer in 240 individuals with PJS possessing germline mutations in STK11. Results: Fifty-four cancers were found among carriers. Overall, the risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 1%, 3%, 19%, 32%, 63%, and 81%, respectively. Kaplan-Meier analysis showed similar cancer risks between missense and truncating mutation carriers (log-rank @g^2 = 2.48; P = 0.12). There was some evidence that mutations in exon 3 of STK11 were associated with a higher cancer risk than mutations within other regions of the gene. We found no difference in overall cancer risk between male and female carriers (log-rank @g^2 = 1.31; P = 0.25) or between familial and sporadic cases (log-rank @g^2 = 1.16, with 1 df; P = 0.28). The most common cancers represented were gastrointestinal in origin-gastroesophageal, small bowel, colorectal, and pancreatic-and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 10%, 18%, and 42%, respectively. In women, the risk for breast cancer was substantially increased, being 32% by age 60 years. Conclusions: These results quantitatively show the spectrum of cancer risk associated with STK11 germline mutations in the context of PJS and provide a valuable reference for defining surveillance regimens.
Details
- Language :
- English
- ISSN :
- 00165085 and 15280012
- Volume :
- 126
- Issue :
- 7
- Database :
- Supplemental Index
- Journal :
- Gastroenterology
- Publication Type :
- Periodical
- Accession number :
- ejs9906772
- Full Text :
- https://doi.org/10.1053/j.gastro.2004.03.014