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Published in 2019 at "International Journal of Cancer"
DOI: 10.1002/ijc.32557
Abstract: As a large number of cancers are caused by nonsense mutations in key genes, read‐through of these mutations to restore full‐length protein expression is a potential therapeutic strategy. Mutations in the adenomatous polyposis coli (APC)…
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Keywords:
polyposis coli;
number;
nonsense mutations;
polyposis ... See more keywords
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Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1348
Abstract: Familial adenomatous polyposis (FAP) is characterized by colorectal polyposis and adenocarcinoma that is frequently accompanied by extracolonic neoplasm. The risk of gastric carcinoma is increasing in Western FAP patients as well as Asian patients.
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Keywords:
carcinoma;
familial adenomatous;
genetic alteration;
adenocarcinoma ... See more keywords
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Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.479
Abstract: Familial adenomatous polyposis (FAP) is a familial colorectal cancer predisposition syndrome characterized by the development of numerous colorectal polyps, which is inherited in an autosomal dominant manner. FAP is caused by germ line mutations in…
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Keywords:
germ line;
apc gene;
familial adenomatous;
polyposis ... See more keywords
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Published in 2020 at "Der Internist"
DOI: 10.1007/s00108-020-00903-z
Abstract: Gastrointestinale Polyposissyndrome sind nach dem Lynch-Syndrom (erblicher Darmkrebs ohne Polyposis [HNPCC]) die zweithäufigste Ursache erblicher kolorektaler Karzinome. Der Nachweis einer ursächlichen Keimbahnmutation bei einer betroffenen Person der Familie dient der Differenzialdiagnose, der Einschätzung des Wiederholungsrisikos…
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Keywords:
die;
einer;
gastrointestinale polyposissyndrome;
der ... See more keywords
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Published in 2017 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-017-4591-y
Abstract: I have read with great interest the review article by Yao et al. [1] on the existing and emerging biomarkers available for the evaluation and management of chronic rhino-sinusitis with nasal polyposis (CRSwNP). Among other…
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Keywords:
evaluation management;
polyposis;
nasal polyposis;
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Published in 2021 at "Gastric Cancer"
DOI: 10.1007/s10120-021-01253-x
Abstract: A 41-year-old woman was admitted to our hospital for epigastralgia. She had been admitted to another hospital for fundic gland polyposis (FGP) without any symptoms, and no malignancy had been noted in her previous endoscopy.…
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Keywords:
gapps;
gastric adenocarcinoma;
polyposis stomach;
proximal polyposis ... See more keywords
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Published in 2020 at "Journal of Gastrointestinal Surgery"
DOI: 10.1007/s11605-020-04736-x
Abstract: Dear editor, We have read with great interest the article by Naples et al. about long-term outcomes of pancreas-sparing duodenectomy (PSD) to treat the duodenal polyposis among 45 patients with a familial adenomatous polyposis (FAP).…
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Keywords:
outcomes pancreas;
sparing duodenectomy;
long term;
term outcomes ... See more keywords
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Published in 2020 at "Brazilian journal of otorhinolaryngology"
DOI: 10.1016/j.bjorl.2019.12.005
Abstract: INTRODUCTION Nasal polyposis is a progressive inflammatory disease that reduces the quality of life. The role - of apoptotic and autophagic pathways in nasal polyposis pathogenesis is not yet clearly known. OBJECTIVE In this study…
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Keywords:
pi3k;
nasal polyposis;
mtor;
polyposis ... See more keywords
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Published in 2019 at "Gastrointestinal endoscopy"
DOI: 10.1016/j.gie.2018.12.018
Abstract: BACKGROUND AND AIMS Gastric cancer (GC) is a newly described cancer risk in Western patients with familial adenomatous polyposis (FAP). Little is known about clinical, endoscopic, and pathologic features associated with FAP-related GC. We compared…
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Keywords:
gastric cancer;
features associated;
fap patients;
polyposis ... See more keywords
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Published in 2021 at "Pathology"
DOI: 10.1016/j.pathol.2021.08.009
Abstract: Cutaneous findings are commonly associated with underlying gastrointestinal disorders and, in many instances, may be the first manifestation. Many such syndromes have incomplete penetrance and variable expressivity, making them difficult to recognise. Skin manifestations may…
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Keywords:
gastrointestinal polyposis;
associated cutaneous;
cutaneous manifestations;
polyposis associated ... See more keywords
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Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0509-z
Abstract: This study aimed to determine the prevalence of APC-associated familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) in a large cohort, taking into account factors as adenoma count and year of diagnosis. All application forms…
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Keywords:
mutyh;
biallelic mutyh;
apc biallelic;
detection rates ... See more keywords