Phenotypic dento-osseous characterization of a Brazilian family with Familial Adenomatous Polyposis

• Published in: Archives of oral biology Vol. 129; p. 105206
• Main Authors: Arruda, Karen Ariely Rocha, Normando, Ana Gabriela Costa, Pacheco-Pereira, Camila, Amorim dos Santos, Juliana, Yamaguti, Paulo Marcio, Mazzeu, Juliana Forte, Almeida, Fabiana Tolentino, Acevedo, Ana Carolina, Guerra, Eliete Neves Silva
• Format: Journal Article
• Language: English
• Published: Elsevier Ltd 01.09.2021
• Subjects: Adenomatous polyposis coli gene; Colorectal cancer; Dentistry; Dento-osseous anomalies; Familial Adenomatous Polyposis; Gardner Syndrome; Colorectal cancer; FN; FP; Dento-osseous anomalies; DPRS; CBCT; APC; FAP; NPV; PPV; Gardner Syndrome; Familial Adenomatous Polyposis; Adenomatous polyposis coli gene
• ISSN: 0003-9969; 1879-1506
• DOI: 10.1016/j.archoralbio.2021.105206

•FAP patients have a higher prevalence of dento-osseous anomalies.•Bone changes are more prevalent than dental changes in FAP population.•A nonsense heterozygous mutation in the APC gene (c.1370C > G; p.Ser457*) was detected.•FAP patients should undergo dental examination and genetic counseling.•The screening of dento-osseus anomalies contributes to the early diagnosis. To perform a phenotypic characterization of the dento-osseous anomalies in a Brazilian family with Familial Adenomatous Polyposis (FAP) and to investigate the adenomatous polyposis coli (APC) causative variant. The study included a family of 14 individuals (Group A: affected; Group B: non-affected). The frequency of radiographic findings in both groups was evaluated according to the Dental Panoramic Radiograph Score (DPRS) diagnostic method. The accuracy and reproducibility of DPRS were tested. The DNA was isolated from the index patient’s saliva and submitted to whole-exome and Sanger sequencing approach. DPRS ≥ 7 was observed in 80 % of Group A but in none of Group B. The most common findings in Group A were dense bone islands (60 %), hazy sclerosis (40 %), osteomas (40 %), and supernumerary tooth (20 %). DPRS has proved to be a reliable method while DPRS ≥ 5 and DPRS ≥ 7 were taken as positive for FAP, and reproducible diagnosis test considering that the evaluators correctly identified the affected patients (Kappa agreement>0.8, p = 0.002). A nonsense heterozygous mutation in the APC gene (c.1370C > G; p.Ser457*) of the index case was detected. FAP patients have a higher frequency of dento-osseous anomalies (p = 0.005). Bone abnormalities were more prevalent than dental anomalies (p = 0.001). Thus, FAP patients should be referred for dental examination and genetic counseling to perform early diagnosis of dento-osseous anomalies and evaluate the implications of the molecular findings in each particular family.