Basic-alimentary tractRelative frequency and morphology of cancers in STK11 mutation carriers1 ☆,
Section snippets
Patients
A series of PJS patients were ascertained through specialist centers within Europe, Australia, and the United States: Institute of Cancer Research, United Kingdom; INSERM U343, Paris, France; Academic Medical Center, Amsterdam, The Netherlands; Erasmus MC University Medical Center, Rotterdam, The Netherlands; VU University Medical Center, Amsterdam, The Netherlands; John Hunter Hospital, New South Wales, Australia; Mayo Clinic, Rochester, Minnesota; and The Johns Hopkins University School of
Results
Data on 240 PJS patients (109 male and 131 female cases) in whom a STK11 mutation had been identified were available for analysis. A total of 188 of the patients were derived from 49 families (mean family size including proband = 4; range = 2–11) and 52 were apparently sporadic cases.
Discussion
In our study of 240 PJS patients with germline STK11 mutations, the highest absolute cancer risk observed was for carcinomas of the gastrointestinal tract—esophagus, stomach, small bowel, colon, rectum, and pancreas. These cancer types are the principal malignancies identified as standard components of PJS. The major risk for extraintestinal cancer was breast cancer, with the upper confidence limit of the estimated risk being comparable with those associated with mutations in either BRCA1 or
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Cited by (0)
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Supported by Cancer Research U.K., the Clayton Fund, the John G. Rangos Sr Charitable Fund at Johns Hopkins Hospital, and the Hunter Medical Research Institute at the John Hunter Hospital. W.L. received a grant from the Epsom Hospital National Health Service Trust Gastroenterology Research and Development Fund.
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The authors are grateful to the patients and clinicians who participated in this study.