The identification of mutations associated with Serrated Polyposis Syndrome

Recruiting

• Conditions: Hyperplastic polyposis syndrome; Serrated Polyposis Syndrome; 10018018; 10017990; 10017991

• Registration Number: NL-OMON38510
• Lead Sponsor: niversitair Medisch Centrum Sint Radboud

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 100

Inclusion Criteria

Patients fulfilling the WHO criteria for SPS (5) or first degree family members (both SPS as non-SPS suspects), from identified patients with SPS
Age >= 18 years

Exclusion Criteria

Age < 18 years
Incapacitated subjects
Patients with known germline mutations (e.g. mutations in APC or MUTYH)

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To identify the SPS causative gene using exome sequencing technique in<br /><br>well-characterized SPS patients and families. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>• To give an overview of polyposis and SPS patients identified in a<br /><br>retrospective PALGA search in a tertiary medical centre over 27 years<br /><br>• To distinguish different subtypes in phenotypes of patients with serrated and<br /><br>mixed polyposis<br /><br>• To confirm the possible genes in additional SPS families, SPS singletons and<br /><br>exclude it in healthy controls.<br /><br>• To study the effect of the mutation on protein level<br /><br>• To elucidate the genetic mechanism underlying the serrated carcinoma pathway<br /><br>and molecular etiology in SPS<br /><br>• To identify patients at increased risk for colorectal carcinoma and family<br /><br>members at increased risk for polyposis or CRC</p><br>