Hereditary Colorectal and Associated Tumor Registry Study

After informed consent, participants will be asked to complete a medical/family history questionnaire and provide a blood sample. Participants will also be asked for their permission for study investigators to access medical records and/or recontact them for updates to their medical and family histories. Data and biospecimens will be stored for potential future research projects.

Study Overview

• Status: Completed
• Conditions: Lynch Syndrome; Hereditary Diffuse Gastric Cancer; FAP; Peutz-Jeghers Syndrome; Juvenile Polyposis Syndrome
• Intervention / Treatment: Other: Research Registry

• Study Type: Observational
• Enrollment (Actual): 114

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15232
      • University of Pittsburgh

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 100 years (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Potential research subjects are recruited from our Hereditary GI clinic.

Description

Inclusion Criteria:

• Identified gene mutation
• Personal history of colorectal cancer diagnosed ≤ 50
• Personal history of cancer with tumor studies suggestive of Lynch syndrome
• Personal history of multiple primary tumors associated with a hereditary cancer syndrome (colorectal, uterus, stomach, ovary, small bowel, hepatobiliary tract, transitional cell carcinoma of the renal pelvis/ureter, brain)
• Personal history of one of the above cancers and a family history of one or more of the above cancers
• Personal or family history of diffuse gastric cancer
• From a known genetic predisposition family
• Personal history of > 10 colon adenomas (cumulative over a lifetime)
• Personal history of any number of hamartomatous polyps
• Personal history of multiple large (> 1cm) serrated polyps to right of sigmoid

Exclusion critera:

• Individuals under the age of 8
• Individuals who cannot travel to Pittsburgh for in-person enrollment
• Individuals who cannot provide informed consent

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Establish a Hereditary Colorectal Tumor Registry to facilitate development and implementation of epidemiological, clinical and cancer control research.	1-N/A (up to 8 years)

Collaborators and Investigators

• Sponsor: University of Pittsburgh

Study record dates

Study Major Dates

• Study Start: April 1, 2012
• Primary Completion (ACTUAL): January 26, 2018
• Study Completion (ACTUAL): January 26, 2018

Study Registration Dates

• First Submitted: March 3, 2008
• First Submitted That Met QC Criteria: March 11, 2008
• First Posted (ESTIMATE): March 12, 2008

Study Record Updates

• Last Update Posted (ACTUAL): February 19, 2018
• Last Update Submitted That Met QC Criteria: February 15, 2018
• Last Verified: February 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Metabolic Diseases; Skin Diseases; Neoplasms; Neoplasms by Site; Disease; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Genetic Diseases, Inborn; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Colorectal Neoplasms; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Intestinal Polyposis; Hyperpigmentation; Pigmentation Disorders; Melanosis; Lentigo; Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Peutz-Jeghers Syndrome
• Other Study ID Numbers: 04-112