ArticleGut1999
Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.
Article in Gut, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 60 citations in OpenAlex.
- The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.Hereditary cancer in clinical practice · 2025Review
- Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis.International journal of clinical oncology · 2023Article
- Attenuated adenomatous polyposis of the large bowel: Present and future.World journal of gastroenterology · 2017Article
- Genetic dissection of the Mom5 modifier locus and evaluation of Mom5 candidate genes.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.Familial cancer · 2013Article
- A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Tunisian family with FAP.Familial cancer · 2011Article
- Familial adenomatous polyposis.Orphanet journal of rare diseases · 2009Review
- Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation?Canadian journal of gastroenterology = Journal canadien de gastroenterologie · 2008Article
- A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis.Digestive diseases and sciences · 2007Article
- Article
- Familial adenomatous polyposis: The practical applications of clinical and molecular screening.Familial cancer · 2006Review
- Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.Hereditary cancer in clinical practice · 2005Article
- Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.Familial cancer · 2004Article
- A nonsense mutation in exon 8 of the APC gene (Arg283Ter) causes clinically variable FAP in a Malaysian Chinese family.Cancer science · 2003Article
- Review
- Article
- Genetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancer.British journal of cancer · 2001Article
- Article
- Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features.Familial cancer · 2001Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult and early onset colorectal cancer, to the occurrence of sparse adenomas in the older adult, "attenuated" FAP, due to mutations at the 5' or 3' ends of the APC gene.
aimsTo investigate marked intrafamilial phenotypic variation occurring in a family with an APC gene mutation in exon 9. PATIENTS: An extended kindred of 22 people of whom 16 had colorectal neoplasia and/or were APC mutation carriers.
resultsPhenotypic manifestation varied from classic FAP to a complete lack of clinical or endoscopic, or bioptic disease in five people in three different generations. This occurred in four of them over two generations, in spite of having a confirmed 11 bp insertion causing a frame shift and stop codon (363) in exon 9 of the APC gene.
conclusionsAt present, it is assumed that in this family there is alternative splicing of the APC gene, and/or unidentified modifying genetic factors. The family illustrates the importance of genetic testing in evaluating carrier status and not just clinical examination. This clinical observation also high- lights the dilemma in recognising the possible contribution of low penetrance germline APC mutations to what has been considered "sporadic" colorectal neoplasia.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.