Hereditary nonpolyposis colorectal cancer is associated with defects in DNA mismatch repair. Here, we characterize tumor susceptibility of the recently described AfsA2-deficient mouse model. Within the first year of observation, all homozygous mice succumbed to disease, with lymphomas observed in at least 80% of the cases. The majority (70%) of animals 6 months or older developed intestinal neo...

Muir-Torre syndrome (MTS) is a rare disorder characterized by the presence of at least one sebaceous gland neoplasm and at least one visceral malignancy. Sebaceous adenomas, sebaceous carcinomas, and sebaceomas (sebaceous epitheliomas) are all characteristic glandular tumors of MTS. The most common visceral malignancies associated with MTS are colorectal, followed by genitourinary. These viscer...

BACKGROUND/AIMS Hereditary non-polyposis colorectal cancer or Lynch syndrome is an autosomal dominantly inherited disease with high penetrance, mostly due to mutations in the MLH1 and MSH2 genes. The aim of this study is to investigate the mutation spectrum of the MLH1 and MSH2 genes. METHODOLOGY High risk colorectal cancer families were selected from overall 1053 consecutive patients. Screen...

Cancer predisposition in some families is known to be the result of germ-line mutations. The most noteworthy hereditary gynecologic cancer syndromes include hereditary breast-ovarian cancer (HBOC) syndrome, wherein BRCA1 and BRCA2 germ-line mutations have been identified, and hereditary nonpolyposis colorectal cancer (HNPCC) of the Lynch syndrome II variant, wherein hMSH2, hMLH1, hPMS2, hMSH3, ...