Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Miguel Rodriguez-Bigas, MD, FACS, FASCRS

Committee Member

Ariadne Letra, DDS, MS, PhD

Committee Member

Jacqueline Hecht, PhD

Committee Member

Sarah Bannon, MS, CGC

Committee Member

Sarah Jane Noblin, MS, CGC

Committee Member

Rebecca Slack, MS

Committee Member

Xiaoming Liu, PhD


Background: Mutations in the APC gene cause familial adenomatous polyposis (FAP), an autosomal dominant colorectal cancer predisposition associated with the development of hundreds to thousands of adenomatous colorectal polyps beginning in childhood or adolescence. Both malignant and non-malignant extracolonic manifestations are associated with APC gene mutations, including approximately 17% of individuals with various dental anomalies. The availability of dental anomaly information in the medical record remains to be evaluated.

Methods: Medical records were reviewed for documentation of dental anomalies. Dental questionnaires were mailed to 271 individuals with FAP at The University of Texas M. D. Anderson Cancer Center (UTMDACC) to assess self-reported dental phenotype. Demographic data was obtained from chart review and included current age or age at death, age at diagnosis of FAP, sex, surgical procedure for polyposis, available dental phenotype information, date of last contact at UTMDACC, and APC gene mutation and codon.

Results: The response rate to the dental questionnaire was 21%. The majority of individuals (82%) were did not have dental anomaly information available in the medical record. Forty-four (16%) had self-reported dental anomalies in either the medical record or on the dental questionnaire. The most frequently reported anomalies were dental crowding and supernumerary teeth.

Conclusion: Our findings are consistent with previous reports of the prevalence of dental anomalies in individuals with FAP. The results of this study indicate that dental anomalies in individuals with FAP are not consistently recorded in the medical record. Ultimately, consistent documentation of these anomalies in the medical record can aid in detection of FAP in individuals for whom genetic testing is not available. This highlights the importance of interdisciplinary approaches between clinicians, genetic counselors, and dentists to provide the best and most accurate clinical phenotype description in individuals with FAP.


genetics, dental anomalies, FAP, familial adenomatous polyposis, APC gene



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