Germline MLH1 Promoter Hypermethylation Genetic Etiology

Overview

About this study

The purpose of this study is to identify underlying genetic causes of germline MLH1 promoter hypermethylation. Specifically, to identify causative genetic alterations in families with germline MLH1 promoter hypermethylation using whole genome sequencing (WGS).

 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Individuals with constitutional MLH1 promoter hypermethylation who also have a blood relative with constitutional MLH1 promoter hypermethylation.
  • Individuals without constitutional MLH1 promoter hypermethylation who have two or more blood relative with constitutional MLH1 promoter hypermethylation.
  • 18 years of age and older.

Exclusion Criteria:

  • Individuals < 18 years of age.
  • Individuals who neither have constitutional MLH1 promoter hypermethylation or family relatives with constitutional MLH1 promoter hypermethylation.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 6/13/23. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Wei Shen, Ph.D.

Closed for enrollment

Contact information:

Stephanie Hafner

(507) 293-0241

Hafner.Stephanie@mayo.edu

More information

Publications

Publications are currently not available