ArticleThe American journal of pathology2002
Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.
Article in The American journal of pathology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.The American journal of gastroenterology · 2015Guideline
- Genomic and transcriptomic landscape of carcinogenesis in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Surgical management of the colorectum in FAP: tailored approaches for optimal outcomes.Familial cancer · 2025Review
- Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease.Familial cancer · 2025Review
- Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas.Virchows Archiv : an international journal of pathology · 2024Article
- Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.Cancer treatment and research · 2024Review
- Genotype-phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis.Cancer science · 2023Article
- Endoscopic Approach to Duodenal Adenomas in Familial Adenomatous Polyposis: A Retrospective Cohort.GE Portuguese journal of gastroenterology · 2023Article
- Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis.Hereditary cancer in clinical practice · 2023Article
- Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors).Virchows Archiv : an international journal of pathology · 2023Article
- Genomic landscape of colorectal carcinogenesis.Journal of cancer research and clinical oncology · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.Annals of coloproctology · 2021Review
- APC mutations are common in adenomas but infrequent in adenocarcinomas of the non-ampullary duodenum.Journal of gastroenterology · 2021Article
- Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).Journal of clinical laboratory analysis · 2021Article
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Genetic alteration of colorectal adenoma-carcinoma sequence among gastric adenocarcinoma and dysplastic lesions in a patient with attenuated familial adenomatous polyposis.Molecular genetics & genomic medicine · 2020Article
- The role of APC in WNT pathway activation in serrated neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives.Clinical and experimental gastroenterology · 2018Review
- Gastric tumours in FAP.Familial cancer · 2017Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies of adenomatous polyposis coli (APC) mutations in familial adenomatous polyposis (FAP) have focused on large bowel disease. It has been found that: 1) germline APC mutations around codon 1300 are associated with severe colorectal polyposis; 2) somatic APC mutations in colorectal tumors tend to cluster approximately between codons 1250 and 1450; and 3) patients with germline mutations close to codon 1300 tend to acquire somatic mutations (second hits) in their colorectal polyps by allelic loss, whereas the tumors of other FAP patients have truncating second hits. Using new and published data, we have investigated how germline and somatic APC mutations influence the pathogenesis of upper gastrointestinal polyps in FAP. We have compared the results with those from colorectal disease. We found that somatic mutations in upper gastrointestinal polyps cluster approximately between codons 1400 and 1580. Patients with germline APC mutations after codon 1400 tend to show allelic loss in their upper gastrointestinal polyps; the tumors of other patients have truncating somatic mutations after codon 1400. Finally, patients with germline mutations after codon 1400 tend to have more severe duodenal polyposis (odds ratio, 5.72; 95% confidence interval, 1.13 to 28.89; P = 0.035). Thus, in both upper gastrointestinal and colorectal tumors, a specific region of the APC gene is associated with severe disease, clustering of somatic mutations, and loss of the wild-type allele. However, the region concerned is different in upper gastrointestinal and colorectal disease. The data suggest that loss of all APC SAMP repeats is probably necessary for duodenal and gastric tumorigenesis in FAP, as it is in colonic tumors. Compared with colonic tumors, however, retention of a greater number of beta-catenin binding/degradation repeats is optimal for tumorigenesis in upper gastrointestinal FAP.
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