Susanne E. Korsse

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The serine/threonine kinase LKB1 is a master kinase involved in cellular responses such as energy metabolism, cell polarity and cell growth. LKB1 regulates these crucial cellular responses mainly via AMPK/mTOR signaling. Germ-line mutations in LKB1 are associated with the predisposition of the Peutz-Jeghers syndrome in which patients develop(More)
BACKGROUND Although Peutz-Jeghers syndrome (PJS) is known to be associated with pancreatic cancer (PC), estimates of this risk differ widely. This hampers counselling of patients and implementation of surveillance strategies. We therefore aimed to determine the PC risk in a large cohort of Dutch PJS patients. METHODS PJS was defined by diagnostic criteria(More)
Peutz-Jeghers syndrome (PJS) is caused by mutations in the LKB1 gene. It is characterized by gastrointestinal polyposis and an increased cancer risk, mainly in the gastrointestinal tract. Mechanisms of PJS-associated carcinogenesis are unclear. We investigated the involvement of candidate genes and molecular pathways in PJS-associated gastrointestinal(More)
The liver kinase B1 (LKB1)/adenosine mono-phosphate-activated protein kinase (AMPK)/tuberous sclerosis complex (TSC)/mammalian target of rapamycin (mTOR) complex (mTORC1) cassette constitutes a canonical signaling pathway that integrates information on the metabolic and nutrient status and translates this into regulation of cell growth. Alterations in this(More)
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disease. It is clinically characterized by the development of gastrointestinal hamartomas, mainly located in the small bowel. These hamartomas are prone to complications such as intussusceptions, abdominal complaints and anaemia. Furthermore, patients are at increased risk for developing(More)
BACKGROUND AND STUDY AIMS Small-bowel surveillance with polypectomy of polyps ≥15 mm prevents complications in patients with Peutz-Jeghers syndrome (PJS). We aimed to compare magnetic resonance enteroclysis (MRE) and double balloon enteroscopy (DBE) for diagnostic yield of these polyps and for patient preference. MATERIALS AND METHODS PJS patients(More)
Peutz-Jeghers syndrome (PJS), caused by germ-line mutations in LKB1, is characterized by the development of hamartomatous polyps in the gastrointestinal (GI) tract. McCune Albright syndrome (MAS), caused by somatic activating mutations in GNAS, presents with cutaneous, skeletal, and endocrine manifestations. Recently, hamartomatous GI polyps with(More)
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disorder, caused by germline mutations in the LKB1 tumour suppressor gene. It is clinically characterised by distinct perioral mucocutaneous pigmentations, gastrointestinal polyposis and an increased cancer risk in adult life. Hamartomatous polyps can develop already in the first decade of(More)
Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy termination, and pre-implantation genetic diagnosis (PGD). In a(More)
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