Genetic Study of Young Patients With Colorectal Cancer

OBJECTIVES:

- Evaluate the prognostic significance (e.g., overall survival) of microsatellite
instability (MSI) status in patients with early age-of-onset stage I-III colorectal
cancer, assuming the presence of a quantitative interaction between MSI status and
family history of cancer.

- Evaluate the development of metachronous neoplasms in this patient population.

- Evaluate the histologic features and genetic changes associated with hereditary
nonpolyposis colorectal cancer in this patient population.

OUTLINE: This is a multicenter study. Patients are stratified according to family history
using the Amsterdam II criteria for hereditary nonpolyposis colorectal cancer (positive vs
negative).

Patients undergo baseline colonoscopy before or within 6 months of initial curative
resection and then surveillance colonoscopy at 1, 3, and 5 years (+/- 6 months) after
resection. The number, size, location, histology, and method of removal of polyps are
documented at the time of colonoscopy. Patients also undergo microsatellite instability
(MSI) status testing and complete family history questionnaires at baseline.

The prognostic significance of family history and MSI status is evaluated. The individual
histologic features of the tumors are compared with the MSI status to determine their
predictive value. The histologic features are also correlated with outcome to determine
their prognostic significance.

Patients may be referred for genetic counseling.

A certificate of confidentiality protecting the identity of research participants in this
project has been issued by the National Cancer Institute.

DISEASE CHARACTERISTICS:

- Diagnosis of stage I-III adenocarcinoma of the colon or rectum

- Must have undergone an initial curative resection within the past year

- No colon or rectal cancer resection that does not allow for definitive T or N
staging

- No initial post-surgical surveillance colonoscopy prior to study entry

- Must have a pathology specimen, with representative normal and tumor tissues,
available for submission to the ACOSOG Central Specimen Bank prior to study entry

- No personal or family history of familial adenomatous polyposis

- No recurrent colorectal cancer

PATIENT CHARACTERISTICS:

Age

- 18 to 49 at first diagnosis

Other

- Must be willing to provide a family cancer history to the study team and continue
with follow-up colonoscopic surveillance

- No other malignancy within the past 5 years except completely resected cervical
cancer or nonmelanoma skin cancer

- No evidence of recurrence of other prior malignancy

PRIOR CONCURRENT THERAPY:

Radiotherapy

- No prior pelvic radiotherapy for rectal cancer

- No concurrent preoperative pelvic radiotherapy for rectal cancer

Surgery

- See Disease Characteristics