The identification of mutations associated with Serrated Polyposis Syndrome

The identification of mutations associated with Serrated Polyposis Syndrome - Genetic identification of SPS

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON38510

Enrollment

100

Registered

2013-10-01

Start date

2013-11-22

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hyperplastic polyposis syndrome Serrated Polyposis Syndrome

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: Age

Design outcomes

Primary

Measure	Time frame
To identify the SPS causative gene using exome sequencing technique in well-characterized SPS patients and families.	—

Secondary

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

Measure

Time frame

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

—

Countries

Netherlands

Outcome results