Search Results - "van Lier, Margot GF"
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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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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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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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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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