Genetic Study of Patients and Families With a History of Colorectal Cancer

OBJECTIVES: I. Select patients with colon cancer and families at high-risk for colon cancer
and collect leukocyte DNA, immortalized cell lines, plasma, and tumor specimens from these
individuals and from control individuals. II. Develop patient education, counseling, and
follow up plans for these individuals. III. Compare the frequency of defective DNA mismatch
repair in individuals with familial colon cancer versus all colon cancers by using
antibodies to the hMSH2 and hMLH1 protein products.

OUTLINE: This is a multicenter study. Patients, family members, and control individuals
complete an extended telephone interview, an extended personal interview, and an
epidemiological survey, and contribute a blood specimen. Blood and tumor specimens are
examined for the specific pattern of immunohistochemical expression of hMSH2 and HMLH1 to
determine the frequency or lack of expression of these two protein products. Patients may be
contacted periodically (about every 3 years) to update information about health, health
practices, and family history. Patients do not receive the results of the genetic testing
and the results do not influence the type or duration of treatment.

PROJECTED ACCRUAL: At least 500-600 families (approximately 1500 patients) and the same
number of matched controls will be accrued for this study.

DISEASE CHARACTERISTICS: Primary colorectal cancer and participating in one of the
following NCCTG protocols: NCCTG-784852: No Treatment Control Versus Levamisole Versus
Levamisole Plus 5-Fluorouracil NCCTG-794604: No Treatment Control Versus 5-FU by Portal
Vein Infusion NCCTG-794751: Postoperative Radiation Versus Postoperative Radiation Plus
Sequential Chemotherapy with Methyl CCNU and 5-FU NCCTG-844652: An Intergroup Study - An
Evaluation of Levamisole Alone or Levamisole Plus 5-Fluorouracil as Surgical Adjuvant
Treatment for Resectable Adenocarcinoma of the Colon NCCTG-864751: Phase III Protocol for
Surgical Adjuvant Therapy of Rectal Carcinoma: A Controlled Evaluation of (A)
Protracted-Infusion-5-Fluorouracil (5-FU) as a Radiation Enhancer and (B) 5-FU Plus
Methyl-CCNU Chemotherapy NCCTG-874651: M/N - A Controlled Evaluation of Recombinant
Interferon-Gamma (IFN-GM) and 5-FU and Folinic Acid With or Without Levamisole as Adjuvant
Treatment for Resectable Adenocarcinoma of the Colon NCCTG-894651: A Controlled Phase III
Evaluation of 5-Fluorouracil with Levamisole and Leucovorin as Adjuvant Treatment for
Resectable Colon Cancer NCCTG-914653: A Phase III Evaluation of High-Dose Levamisole Plus
5-Fluorouracil and Leucovorin as Surgical Adjuvant Therapy for High-Risk Colon Cancer
Adequate tissue for review OR Families of patients meeting the above criteria OR Colon
cancer patient and population controls not in a high-risk family OR Spouse of a high-risk
colon cancer patient

PATIENT CHARACTERISTICS: Age: Not specified Performance status: See Disease
Characteristics Life expectancy: See Disease Characteristics Hematopoietic: See Disease
Characteristics Hepatic: See Disease Characteristics Renal: See Disease Characteristics

PRIOR CONCURRENT THERAPY: See Disease Characteristics