Dental anomalies in pediatric patients with familial adenomatous polyposis

Fam Cancer. 2018 Apr;17(2):229-234. doi: 10.1007/s10689-017-0035-5.


Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body. The control group was identified from a retrospective chart review and selected if there was a current panoramic radiograph. The only significant difference between familial adenomatous polyposis patients and controls were the presence of jaw osteomas and sclerosis (p = .0001). Patients with a mutation in, or upstream of codon 1309 had a higher frequency of osteomas (77.8%) and jaw-bone sclerosis (44.4%), and 77% of these had at least one dental anomaly. This preliminary study showed an association between a genetic variant at, or upstream of codon 1309, and radiographic dental anomalies.

Keywords: Adenomatous polyposis coli gene; Colorectal carcinoma; Dental anomalies; FAP; Familial adenomatous polyposis; Osteomas.

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli Protein / genetics*
  • Adolescent
  • Case-Control Studies
  • Child
  • Dentofacial Deformities / diagnostic imaging
  • Dentofacial Deformities / epidemiology*
  • Dentofacial Deformities / genetics
  • Female
  • Humans
  • Jaw / diagnostic imaging
  • Jaw / pathology
  • Male
  • Mandibular Neoplasms / diagnostic imaging
  • Mandibular Neoplasms / epidemiology*
  • Mandibular Neoplasms / genetics
  • Mutation
  • Osteoma / diagnostic imaging
  • Osteoma / epidemiology*
  • Osteoma / genetics
  • Osteosclerosis / diagnostic imaging
  • Osteosclerosis / epidemiology*
  • Osteosclerosis / genetics
  • Prevalence
  • Radiography, Panoramic
  • Retrospective Studies


  • APC protein, human
  • Adenomatous Polyposis Coli Protein

Supplementary concepts

  • Osteomas Of Mandible