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Familial Adenomatous Polyposis 

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  1. Open Access 08-03-2024 | Hepatic Adenoma | ReviewPaper

    The enigma of glutamine synthetase and b-catenin expression in hepatocellular adenoma in familial adenomatous polyposis coli

  2. Open Access 23-10-2023 | Hepatic Adenoma | OriginalPaper

    Integrated genotype–phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas

    Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by numerous colorectal adenomas. In addition, FAP patients may develop extraintestinal …

  3. Open Access 01-12-2024 | Familial Adenomatous Polyposis | OriginalPaper

    Clinical efficacy of metformin in familial adenomatous polyposis and the effect of intestinal flora

    Familial adenomatous polyposis (FAP) is mainly caused by germline mutations in the adenomatous polyposis gene on chromosome 5 [ 1 ], and is characterized by the growth of large numbers of adenomatous polyps in the colorectum during adolescence …

  4. Open Access 01-12-2024 | Familial Adenomatous Polyposis | OriginalPaper

    Long-term prognosis after stapled and hand-sewn ileal pouch–anal anastomoses for familial adenomatous polyposis: a multicenter retrospective study

    Familial adenomatous polyposis (FAP) is a genetic disease that typically develops multiple colon polyps until the patients reach their 20s and eventually harbor colorectal cancer at 100% penetrance until their 60s [ 1 , 2 ]. Chemoprevention or …

  5. Open Access 23-01-2024 | Familial Adenomatous Polyposis | OriginalPaper

    Risk of gastric adenoma and adenocarcinoma in patients with familial adenomatous polyposis in Japan: a nationwide multicenter study

    Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a pathogenic variant in the APC [ 1 – 3 ]. FAP is the second most common predisposition to hereditary colorectal cancer (CRC) and is characterized by the development of …

  6. 24-12-2023 | Familial Adenomatous Polyposis | OriginalPaper

    Clinical features and distribution of the APC variant in duodenal and ampullary polyps in patients with familial adenomatous polyposis: a multicenter retrospective cohort study in Japan

    Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by germline pathogenic variants in the adenomatous polyposis coli ( APC ) gene [ 1 ]. Patients with this disease develop hundreds to thousands of adenomatous polyps in …

  7. Open Access 01-12-2023 | Familial Adenomatous Polyposis | OriginalPaper

    Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the adenomatous polyposis coli ( APC ) gene. It is characterized by multiple adenomas throughout the colon and rectum and results in colorectal …

  8. 18-10-2023 | Familial Adenomatous Polyposis | OriginalPaper

    Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis

    Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance caused by pathogenic germline variants of the adenomatous polyposis coli ( APC ) gene. Its prevalence is reportedly 1:6850 to 1:31,250 live births [ …1

  9. Open Access 01-12-2023 | Familial Adenomatous Polyposis | OriginalPaper

    De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review

    Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome characterized by the development of hundreds to thousands of colorectal adenomatous polyps, resulting in colorectal cancer (CRC) in the majority of patients by the age of 40–50 …

  10. 29-04-2023 | Colectomy | ReviewPaper

    Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome

    Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing affected individuals to gastrointestinal (GI) cancers through a high burden of polyposis. Colorectal cancer rates reach 100% by the age of 45, making early …

  11. 09-09-2023 | Familial Adenomatous Polyposis | OriginalPaper

    Superior rectal artery preservation to reduce anastomotic leak rates in familial adenomatous polyposis patients treated with total colectomy and ileorectal anastomosis

    Familial adenomatous polyposis (FAP) is an inherited disorder leading to the development of a multitude of adenomas in the large bowel [ 1 ]. This condition is predominantly secondary to germline pathogenic variants on the APC and MUTYH genes that …

  12. Open Access 01-12-2022 | Familial Adenomatous Polyposis | OriginalPaper

    Microbiome insights into pediatric familial adenomatous polyposis

    Colorectal cancer (CRC) is one of the most common malignancies worldwide and the third leading cause of cancer in the United States. Most cases of CRC are sporadic, but a clear familial predisposition is evident in up to 30% of individuals, with …

  13. Open Access 19-11-2022 | Pathology | OriginalPaper

    Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients

    To prevent duodenal and ampullary cancer in familial adenomatous polyposis (FAP) patients, a diagnosis of high grade dysplasia (HGD) plays an important role in the clinical management. Previous research showed that FAP patients are both over- and …

  14. 01-05-2022 | Rectal Cancer | OriginalPaper

    Long-term prognosis of familial adenomatous polyposis with or without mucosectomy

    Familial adenomatous polyposis (FAP) is a genetic disorder that typically develops in individuals in the form of multiple colon polyps until such individuals reach their 20 s and eventually harbor colorectal cancer at 100% penetrance until their …

  15. 13-06-2023 | Familial Adenomatous Polyposis | OriginalPaper

    Feasibility of underwater endoscopic mucosal resection for endoscopic management of gastric neoplasms in patients with familial adenomatous polyposis

  16. 05-08-2022 | Colectomy | OriginalPaper

    Endoscopic management of familial adenomatous polyposis targeting colorectal lesions greater than 5 mm in size: a single-center retrospective study

    Preserving the colon while preventing colorectal cancer is challenging in patients with familial adenomatous polyposis. Although prophylactic colectomy is the current standard of care, some patients with familial adenomatous polyposis may wish to …

  17. 01-02-2022 | Gastric Cancer | OriginalPaper

    Prevalence and endoscopic treatment outcomes of upper gastrointestinal neoplasms in familial adenomatous polyposis

  18. 01-06-2022 | Ovarian Cancer | OriginalPaper

    Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan

    Several nationwide epidemiologic studies on Japanese patients with familial adenomatous polyposis (FAP) have been conducted previously [ 1 – 3 ]. However, they included a large number of patients who were diagnosed using clinical phenotype alone …

  19. 26-05-2023 | Familial Adenomatous Polyposis | OriginalPaper

    Desmoid Tumors in Familial Adenomatous Polyposis Patients: Favorable Outcomes with Multidisciplinary Management

    Consecutive patients with documented diagnoses of both FAP and DTs managed at our centers between 1985 and 2021 were identified from two prospectively maintained institutional databases: the Familial Gastrointestinal Cancer Registry (FGICR), which …

  20. 01-12-2021 | Colonoscopy

    Importance of sessile serrated lesions in a patient with familial adenomatous polyposis

    A 28-year-old male visited hospital because his mother had been diagnosed with familial adenomatous polyposis (FAP) with a pathological variant of the APC gene. Total colonoscopy showed that he has more than 100 polyps distributed throughout the …

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