Hereditary Cancer Syndromes and Dento-Maxillofacial Abnormalities

Hereditary cancer syndromes encompass a group of genetically determined disorders in which germline mutations confer a markedly elevated lifetime risk of malignancy, often accompanied by characteristic dental and craniofacial features. Among the most extensively studied, familial adenomatous polyposis (FAP) and its variant Gardner’s syndrome present with multiple colorectal adenomas and extracolonic manifestations including osteomas of the mandible and maxilla, odontomas and supernumerary teeth. Nevoid basal cell carcinoma syndrome (Gorlin–Goltz syndrome) arises from PTCH1 mutations and manifests with odontogenic keratocysts, jaw cysts and skeletal anomalies such as bifid ribs. Additional rarer syndromes, for example CYLD cutaneous syndrome and Cowden syndrome, also exhibit oral papillomas, salivary gland tumours or hamartomatous lesions. Recognition of these dento-maxillofacial signs by dental and oral surgery teams is vital for early referral to genetic counselling, surveillance colonoscopy or dermatological assessment, thereby enabling timely intervention, prophylactic surgery and tailored therapies. Integrated care pathways now increasingly incorporate next-generation sequencing and multidisciplinary case review to reduce mortality and preserve function.

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Hereditary Cancer Syndromes and Dento-Maxillofacial Abnormalities publication trend

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Technical terms

Autosomal dominant inheritance: A pattern whereby a single copy of a mutated gene from either parent suffices to cause the syndrome.

Osteoma: A benign bone tumour often arising on the mandible or skull, commonly seen in Gardner’s syndrome.

Odontoma: A benign odontogenic tumour comprising dental tissue that may present as supernumerary or malformed teeth.

Odontogenic keratocyst: A cystic lesion of the jaw derived from dental lamina, characteristic of nevoid basal cell carcinoma syndrome.

APC gene: A tumour suppressor gene; germline mutations cause familial adenomatous polyposis and Gardner’s syndrome.

Next-generation sequencing: High-throughput DNA sequencing technology enabling rapid identification of pathogenic germline variants.

References

1. Gardner's Syndrome. Journal of Clinical Imaging Science (2011).
2. Osteoma of the Jaw as First Clinical Sign of Gardner’s Syndrome: The Experience of Two Italian Centers and Review. Journal of Clinical Medicine (2023).
3. Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis. Pathology & Oncology Research (2024).
4. Familiar cylindromatosis in a Columbian family caused by a mutation in CYLD. Ecancermedicalscience (2024).