Hereditary Colorectal and Associated Tumor Registry Study

University of Pittsburgh

Status: Completed

Conditions: Hereditary Diffuse Gastric Cancer; FAP; Lynch Syndrome; Juvenile Polyposis Syndrome; Peutz-Jeghers Syndrome

Treatments: Other: Research Registry

Study type: Observational

Funder types: Other

Identifiers

NCT00633607

04-112

Details and patient eligibility

About

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.

Enrollment: 114 patients

Sex: All

Ages: 8 to 100 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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