Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study
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Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome : A nationwide study. / Jelsig, Anne Marie; van Overeem Hansen, Thomas; Gede, Lene Bjerring; Qvist, Niels; Christensen, Lise Lotte; Lautrup, Charlotte Kvist; Frederiksen, Jane Hübertz; Sunde, Lone; Ousager, Lilian Bomme; Ljungmann, Ken; Bertelsen, Birgitte; Karstensen, John Gásdal.
In: Clinical Genetics, Vol. 104, No. 1, 2023, p. 81-89.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome
T2 - A nationwide study
AU - Jelsig, Anne Marie
AU - van Overeem Hansen, Thomas
AU - Gede, Lene Bjerring
AU - Qvist, Niels
AU - Christensen, Lise Lotte
AU - Lautrup, Charlotte Kvist
AU - Frederiksen, Jane Hübertz
AU - Sunde, Lone
AU - Ousager, Lilian Bomme
AU - Ljungmann, Ken
AU - Bertelsen, Birgitte
AU - Karstensen, John Gásdal
N1 - Publisher Copyright: © 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
PY - 2023
Y1 - 2023
N2 - Peutz–Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%–15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2–83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.
AB - Peutz–Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%–15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2–83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.
KW - endoscopy
KW - genetics
KW - hereditary
KW - Peutz–Jeghers syndrome
KW - polyp
KW - polyposis
KW - STK11
U2 - 10.1111/cge.14337
DO - 10.1111/cge.14337
M3 - Journal article
C2 - 37017260
AN - SCOPUS:85151929776
VL - 104
SP - 81
EP - 89
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 1
ER -
ID: 363271484