Search Results - "van Lier, Margot G"
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Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance
Published in Journal of medical genetics (01-01-2013)“…Although Peutz-Jeghers syndrome (PJS) is known to be associated with pancreatic cancer (PC), estimates of this risk differ widely. This hampers counselling of…”
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Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers
Published in The Journal of pathology (01-12-2014)“…Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes, resulting in microsatellite‐unstable tumours. Approximately 35% of…”
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High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome
Published in Gut (01-02-2011)“…Peutz-Jeghers syndrome (PJS) is associated with an increased cancer risk. As the determination of optimal surveillance strategies is hampered by wide ranges in…”
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Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome
Published in Gastrointestinal endoscopy (01-04-2010)“…Background Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by mucocutaneous pigmentations and hamartomatous polyps mainly in the small…”
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Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome
Published in The Journal of pathology (01-04-2012)“…Although early detection of Lynch syndrome (LS) is important, a considerable proportion of patients with LS remains unrecognized. We aimed to study the yield…”
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A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
Published in Journal of cellular and molecular medicine (01-01-2010)“…• Lynch syndrome • Identification of patients at risk for Lynch syndrome • Molecular basis of Lynch syndrome and sporadic MMR‐deficient tumours • Molecular…”
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Limited diagnostic value of microsatellite instability associated pathology features in colorectal cancer
Published in Familial cancer (01-09-2014)“…To determine the diagnostic test characteristics and inter-observer variation of pathology features for identifying high microsatellite instability (MSI-H)…”
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Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome
Published in Scandinavian journal of gastroenterology (01-01-2009)“…Objective. The revised Bethesda Guidelines were published to improve the efficiency of recognizing Lynch syndrome (LS) by identifying LS-related malignancies…”
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Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age
Published in Genetics in medicine (01-10-2016)“…Purpose: To assess the cost-effectiveness of routine Lynch syndrome (LS) screening among colorectal cancer (CRC) patients ≤70 years of age. Methods: A…”
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Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years
Published in Gynecologic oncology (01-05-2012)“…Abstract Objective Lynch syndrome (LS) is a hereditary syndrome that predisposes to multiple malignancies including endometrial cancer (EC). We aimed to…”
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Su1948 Cost-Effectiveness of Routine Screening for Lynch Syndrome in Colorectal Cancer Patients up to 70 Years of Age
Published in Gastroenterology (New York, N.Y. 1943) (01-04-2015)Get full text
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Su1080 Limited Diagnostic Value of Microsatellite Instability Associated Pathology Features in Colorectal Cancer
Published in Gastroenterology (New York, N.Y. 1943) (01-05-2013)Get full text
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Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis
Published in European journal of human genetics : EJHG (01-02-2012)“…Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life…”
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Su1850 Molecular Alterations in Gastrointestinal Carcinomas of Peutz-Jeghers Syndrome Patients
Published in Gastroenterology (New York, N.Y. 1943) (01-05-2012)Get full text
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Challenges and Pitfalls in Screening for Lynch Syndrome by Molecular Tumor Tissue Analysis
Published in Gastroenterology (New York, N.Y. 1943) (2011)Get full text
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M1052 Quality of Life and Psychological Distress in Patients With Peutz-Jeghers Syndrome
Published in Gastroenterology (New York, N.Y. 1943) (2010)Get full text
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Treatment and Surveillance of Small Bowel Polyps Using Double Balloon Enteroscopy in Patients with Peutz-Jeghers Syndrome
Published in Gastrointestinal endoscopy (01-04-2009)Get full text
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