ArticleAmerican journal of human genetics1998
Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 1 of them a synthesis that pooled it.
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Who cites it
93 citing papers in PubMed, 1 synthesis or guideline pooled it, 349 citations in OpenAlex.
- Genetic testing for colon cancer: joint statement of the American College of Medical Genetics and American Society of Human Genetics. Joint Test and Technology Transfer Committee Working Group.Genetics in medicine : official journal of the American College of Medical GeneticsGuideline
- Predicting colorectal cancer risk in FAP patients using patient-specific organoids.Cancer gene therapy · 2025Article
- Familial Adenomatous Polyposis with Atypical Clinical Morphology and Genetic Variants.Internal medicine (Tokyo, Japan) · 2024Article
- 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.International journal of clinical oncology · 2024Article
- Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.Cancer treatment and research · 2024Review
- Review
- A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature.Medicina (Kaunas, Lithuania) · 2022Review
- Role of endoscopy in patients with familial adenomatous polyposis.Frontline gastroenterology · 2022Article
- Coexisting and Second Primary Cancers in Patients with Uveal Melanoma: A 10-Year Nationwide Database Analysis.Journal of clinical medicine · 2021Article
- Endoscopic management of duodenal adenomatosis in familial adenomatous polyposis-A case-based review.United European gastroenterology journal · 2021Review
- Hedgehog Signaling in Colorectal Cancer: All in the Stroma?International journal of molecular sciences · 2021Review
- Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.Canadian journal of gastroenterology & hepatology · 2021Article
- Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.The American journal of case reports · 2020Article
- A histopathological study on spontaneous gastrointestinal epithelial tumors in dogs.Journal of toxicologic pathology · 2020Article
- Hereditary Polyposis Syndromes.Current treatment options in gastroenterology · 2019Review
- Upper gastrointestinal neoplasia in familial adenomatous polyposis: prevalence, endoscopic features and management.Journal of gastrointestinal oncology · 2019Article
- Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).Journal of medical genetics · 2019Article
- IFN/STAT signaling controls tumorigenesis and the drug response in colorectal cancer.Cancer science · 2019Article
- iTRAQ-based proteomic analysis of DMH-induced colorectal cancer in mice reveals the expressions of β-catenin, decorin, septin-7, and S100A10 expression in 53 cases of human hereditary polyposis colorectal cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2019Article
- A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.Molecular genetics & genomic medicine · 2018Article
33 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germ-line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). AAPC is recognized by the occurrence of <100 colonic adenomas and a later onset of colorectal cancer (age >40 years). The aim of this study was to assess genotype-phenotype correlations in AAPC families. By protein-truncation test (PTT) assay, the entire coding region of the APC gene was screened in affected individuals from 11 AAPC kindreds, and their phenotypic differences were examined. Five novel germ-line APC mutations were identified in seven kindreds. Mutations were located in three different regions of the APC gene: (1) at the 5' end spanning exons 4 and 5, (2) within exon 9, and (3) at the 3' distal end of the gene. Variability in the number of colorectal adenomas was most apparent in individuals with mutations in region 1, and upper-gastrointestinal manifestations were more severe in them. In individuals with mutations in either region 2 or region 3, the average number of adenomas tended to be lower than those in individuals with mutations in region 1, although age at diagnosis was similar. In all AAPC kindreds, a predominance of right-sided colorectal adenomas and rectal polyp sparing was observed. No desmoid tumors were found in these kindreds. Our data suggest that, in AAPC families, the location of the APC mutation may partially predict specific phenotypic expression. This should help in the design of tailored clinical-management protocols in this subset of FAP patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.