Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis
Abstract
Endocrine neoplasms have been reported occasionally in patients with familial adenomatous polyposis (FAP). An adrenocorotical carcinoma was studied in a patient with a family history of FAP. Loss of heterozygosity (LOH) in the region close to the adenomatous polyposis coli (APC) gene was detected in this carcinoma, and evidence was obtained that there was a loss of the normal allele of the APC gene. This is the first demonstration of LOH at the APC locus in adrenocortical tumors. The present results and our previous data on LOH in a recurring desmoid tumor suggest that the heterozygous mutant/wild-type condition of the APC gene may give rise to benign tumors, and that functional loss of this gene leads to development of tumors not only in the colon but also in other various parts of the body in FAP patients.
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There are several reports of ACCs in patients with FAP, neurofibromatosis type 1, and Werner syndrome.
“There are several reports of ACCs in patients with familial adenomatous polyposis (FAP), neurofibromatosis type 1, and Werner syndrome (63–72).”
From Adrenocortical carcinoma (2014) · cites this paper as [64]
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- Authors
- Seki, M., Tanaka, K., Kikuchi-Yanoshita, R., Konishi, M., Fukunari, H., Iwama, T., & Miyaki, M.
- Affiliations
- Tokyo Metropolitan Institute of Medical Science (JP)
- Tokyo Medical and Dental University (JP)
- Venue
- Human Genetics
- Published
- 1992-05
- Volume
- 89
- Issue
- 3
- Pages
- 298-300
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2090528244
- Cited by
- 43
- References
- 15
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2018: 1 · 2017: 1 · 2016: 2 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 0.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- APC gene, loss of heterozygosity, adrenocortical carcinoma, familial adenomatous polyposis, endocrine tumors, aggressive fibromatosis, tumor suppressor, gene loss, hereditary cancer
- MeSH terms
- Adrenal Cortex Neoplasms, Alleles, Carcinoma, Chromosomes, Human, Pair 5, Female, Homozygote, Humans, Male, Middle Aged, Neoplasms, Multiple Primary, Adenomatous Polyposis Coli, Polymorphism, Restriction Fragment Length, Blotting, Southern
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