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http://purl.uniprot.org/citations/15188174http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15188174http://www.w3.org/2000/01/rdf-schema#comment"

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 chi(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 chi(2) = 1.31; P = 0.25) or between familial and sporadic cases (log-rank chi(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."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.org/dc/terms/identifier"doi:10.1053/j.gastro.2004.03.014"xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Houlston R.S."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Scott R.J."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Lim W."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Phillips R.K."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Giardiello F.M."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Olschwang S."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"de Rooij F.W."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Offerhaus G.J."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Boardman L.A."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Spigelman A.D."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Gille J.J."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Menko F.H."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Wilson J.H."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Gruber S.B."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Westerman A.M."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Keller J.J."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/author"Trimbath J."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/date"2004"xsd:gYear
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/name"Gastroenterology"xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/pages"1788-1794"xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/title"Relative frequency and morphology of cancers in STK11 mutation carriers."xsd:string
http://purl.uniprot.org/citations/15188174http://purl.uniprot.org/core/volume"126"xsd:string
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