What are the genetic modifiers that explain the phenotypic variability in Lynch syndrome?

What are the genetic modifiers that explain the phenotypic variability in Lynch syndrome? - Genetic modifiers in Lynch Syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON42727

Enrollment

331

Registered

2015-07-20

Start date

2015-05-04

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

hereditary colorectal cancer HNPCC (hereditary non-poliposis colorectal cancer)

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Over 18 years of age - Member of an established PMS2 family - Confirmed heterozygous mutation carrier - Consent to be informed on findings that may have clinical implications

Exclusion criteria

Exclusion criteria: - Under the age of 18 - Mentally handicapped - Unable to consent to the study - No consent to be informed on findings that may have clinical implications

Design outcomes

Primary

Measure	Time frame
We will establish a genetic profile of both cases and controls. We will focus our analysis of the NGS data on a pre-determined set of 30-50 oncogenes.. Abnormalities can be found in genes that are weakly correlated to CRC or other LS-related tumours. These may explain the variance of phenotype between family members. These variants will be analysed in a segregation analysis between family members to determine their role in the modification of cancer risk.	—

Measure

Time frame

We will establish a genetic profile of both cases and controls. We will focus our analysis of the NGS data on a pre-determined set of 30-50 oncogenes.. Abnormalities can be found in genes that are weakly correlated to CRC or other LS-related tumours. These may explain the variance of phenotype between family members. These variants will be analysed in a segregation analysis between family members to determine their role in the modification of cancer risk.

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Secondary

Measure	Time frame
nvt	—

Countries

Netherlands

Outcome results