Periodontal Disease in Patients With Lynch Syndrome (SMILy_25)

Periodontal Disease in Patients With Lynch Syndrome: a Retrospective Observational, Monocentric Case-control Study

The field of human microbiome research has undergone a revolution in its approach toward understanding how microorganisms influence the physiology of their host 1. The influence of the oral microbiota is not confined to this location 2. Periodontitis is a "chronic inflammatory disease associated with dysbiotic plaque biofilms and characterized by a progressive destruction of the tooth supporting apparatus"3. Given these observations, the central research question of the present study is to determine the prevalence of periodontitis in patients with Lynch syndrome (LS) compared with reference prevalence estimates from the general population40.

Study Overview

• Status: Not yet recruiting
• Conditions: Lynch Syndrome; Periodontal Disease
• Intervention / Treatment: Other: periodontal charting for the diagnosis of periodontitis

• Study Type: Observational
• Enrollment (Estimated): 25

Contacts and Locations

• Study Contact: Name: Professor Rotundo Roberto; Phone Number: 0201751500; Email: rotundo.roberto@hsr.it

Study Locations

• Italy
  • Milan, Italy, 20132
    • IRCCS San Raffaele

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

All the subjects affected by LS, treated between the established study period, will be considered enrolled in the present study, as long as they meet the inclusion criteria. Patients will be anonymized by specific procedures explained in the following paragraphs. All records identifying the subject must be kept confidential and, to the extent permitted by the applicable laws and/or regulations, not be made publicly available.

Subjects with Lynch Syndrome (LS) will be identified and recruited through the Gastroenterology and Gastrointestinal Endoscopy Unit, where LS patients are routinely followed within dedicated surveillance programs.

A subset of these patients has also undergone dental and periodontal evaluation at the Dentistry Unit of IRCCS Ospedale San Raffaele as part of routine clinical care, independent from the present study.

Description

Inclusion Criteria:

1. Age ≥18 years;
2. All sexes eligible
3. Established diagnosis of LS performed as part of clinical practice, with a germline pathogenic/likely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM
4. LS subjects undergoing surveillance gastrointestinal endoscopy according to clinical practice and international guidelines.
5. Subjects underwent dental and periodontal examination

Exclusion Criteria:

1. Age < 18 years;
2. Absence of sufficient periodontal clinical or radiographic data to establish a periodontal diagnosis;
3. Subjects affected by systemic, autoimmune, chronic inflammatory, neurological, or severe psychiatric disorders, or by any other clinical condition that may interfere with study participation or data interpretation
4. Subjects with systemic conditions known to strongly affect periodontal status (e.g. uncontrolled diabetes, autoimmune inflammatory diseases, ongoing cancer therapy) were excluded to reduce major confounding factors that could independently alter periodontal outcomes.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of periodontitis in Lynch Syndrome subjects.	Diagnosis of periodontitis; Interdental clinical attachment loss (CAL) at ≥2 non-adjacent teeth; Buccal/oral CAL ≥3 mm with pocketing >3 mm detectable at ≥2 teeth Clinical attachment loss = CAL = Distance between the cementoenamel junction and the base of the periodontal pocket (tip of the periodontal probe)	Retrospective assessment at study enrollment

Collaborators and Investigators

• Sponsor: Rotundo Roberto

Study record dates

Study Major Dates

• Study Start (Estimated): June 1, 2026
• Primary Completion (Estimated): July 31, 2026
• Study Completion (Estimated): July 31, 2026

Study Registration Dates

• First Submitted: May 12, 2026
• First Submitted That Met QC Criteria: May 18, 2026
• First Posted (Actual): May 22, 2026

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 18, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mouth Diseases; Stomatognathic Diseases; Neoplasms by Site; Neoplasms; Genetic Diseases, Inborn; Metabolic Diseases; Intestinal Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colorectal Neoplasms; Intestinal Neoplasms; Colonic Diseases; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Colorectal Neoplasms, Hereditary Nonpolyposis; Periodontal Diseases
• Other Study ID Numbers: CET79-2026

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No