Abstract
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | American Journal of Medical Genetics. Part A |
| Vol/bind | 140 |
| Udgave nummer | 3 |
| Sider (fra-til) | 200-4 |
| Antal sider | 4 |
| ISSN | 1552-4825 |
| DOI | |
| Status | Udgivet - 2006 |
Bibliografisk note
2006 Wiley-Liss, Inc.Adgang til dokumentet
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Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. / Bisgaard, Marie Luise; Bülow, Steffen.
I: American Journal of Medical Genetics. Part A, Bind 140, Nr. 3, 2006, s. 200-4.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › peer review
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TY - JOUR
T1 - Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.
AU - Bisgaard, Marie Luise
AU - Bülow, Steffen
N1 - Keywords: Adenomatous Polyposis Coli; Adenomatous Polyposis Coli Protein; Bone Neoplasms; DNA Mutational Analysis; Diagnosis, Differential; Epidermal Cyst; Female; Gardner Syndrome; Genotype; Humans; Male; Mutation; Osteoma; Questionnaires
PY - 2006
Y1 - 2006
N2 - Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium (CHRPE) and hepatoblastoma. Sebaceous cysts were reported in 51% of the patients, and their APC mutations were evenly distributed in the gene with no particular hotspot. Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, P < 0.001. The study provides molecular evidence that Gardner syndrome is a variant of FAP and essentially obsolete in clinical practice.
AB - Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium (CHRPE) and hepatoblastoma. Sebaceous cysts were reported in 51% of the patients, and their APC mutations were evenly distributed in the gene with no particular hotspot. Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, P < 0.001. The study provides molecular evidence that Gardner syndrome is a variant of FAP and essentially obsolete in clinical practice.
U2 - 10.1002/ajmg.a.31010
DO - 10.1002/ajmg.a.31010
M3 - Journal article
C2 - 16411234
VL - 140
SP - 200
EP - 204
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -