Preliminary results on germline and somatic molecular investigations in Romanian Lynch syndrome patients
نویسندگان
چکیده
منابع مشابه
Synchronous gynecologic malignancy and preliminary results of Lynch syndrome
OBJECTIVE Lynch syndrome is a hereditary cancer syndrome that increases the risks of colorectal and gynecologic malignancies such as endometrial and ovarian cancer. Studies have shown that mutations in mismatch repair genes (MSH2, MSH6, and MLH1) are associated with Lynch syndrome. The aim of our study was to estimate the value of MSH2, MSH6, and MLH1 immunohistochemistry based on family histor...
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Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the neighboring DNA mismatch repair gene MSH2 in tissues expressing EPCAM. Here we screened a cohort of unexplained Lynch-like families for the presence of EPCAM deletions. We identified 27 novel independent MSH2-deficient ...
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AIM To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of...
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The study of the human past needs the effort of different disciplines including history, archaeology and non invasive imaging techniques such geophysics whose application for cultural heritage has been dramatically increasing in the last two decades. The capability of geophysical techniques in identifying subsurface features of cultural interest depends on: 1) the nature of the physical interac...
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Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissen...
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ژورنال
عنوان ژورنال: Annals of Oncology
سال: 2017
ISSN: 0923-7534
DOI: 10.1093/annonc/mdx393.130