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Evidence that the MCC-APC Gene Region in 5q21 Is Not the Site for Susceptibility to Hereditary Nonpolyposis Colorectal Carcinoma¹

Department of Medical Genetics, University of Helsinki, 00290 Helsinki, Finland [P. P., L. P., L. A., J. K., A. d. l. C.]; Finnish Red Cross Blood Transfusion Service, 00310 Helsinki, Finland [P. S.]; Department of Surgery, Jyvskyl Central Hospital, 40620 Jyvskyl, Finland [J-P. M.]; Department of Pathology, University of Helsinki, 00290 Helsinki, Finland [S. N.]; Second Department of Surgery, Helsinki University Central Hospital, 00290 Helsinki, Finland [H. J.]; and Departments of Oncology, Pathology, and Epidemiology, the Johns Hopkins University Schools of Medicine, Public Health and Hygiene, and Hospital, Baltimore, Maryland 21231 [S. R. H., G. P., K. W. K., B. V.]

Hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most common form of hereditary colon cancer. Autosomal dominant inheritance is evident from pedigrees but the genetic basis of the disorder is otherwise unknown. Recently, two genes in 5q21 involved in colon carcinogenesis, APC and MCC, were identified, and APC was shown to be the gene predisposing to familial adenomatous polyposis. To determine if these genes also confer susceptibility to HNPCC we performed linkage analyses in nine affected families. The MCC-APC region could be formally excluded as the locus for HNPCC in seven families. In one family the results were suggestive of exclusion, although they were not conclusive. The remaining family was uninformative. We used two alternative definitions of affected status. Based on haplotypes for MCC and APC the added pairwise logarithm-of-odds score for all nine families was -22.57 at the recombination fraction of 0.00 using more stringent criteria for the HNPCC phenotype and -22.67 for less stringent criteria. In addition to blood DNA samples from living family members, DNA from formaldehyde-fixed archival pathology specimens from deceased individuals contributed to these linkage results.

¹ Supported by grants from the Academy of Finland, the Finnish Cancer Society, the Sigrid Juselius Foundation, the Duodecim Foundation, the Clayton Fund, and NIH Grants CA35494 and CA47527. Part of this study was carried out at the Folkhälsan Institute of Genetics.

² To whom requests for reprints should be addressed, at Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, 00290 Helsinki, Finland.

Received 4/ 2/92. Accepted 6/ 9/92.

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