Search

The article discusses the findings of a study of the frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers. A description of the experimental setup and measurement method is given. A chart is presented that shows hMSH6 germlike alterations and pedigree data on the families with detected abnormalities. The study suggests that hMSH6 examination be considered for probands with multiple primary tumors.

Abstract The NOD2 gene has been associated with susceptibility to Crohn's disease and individuals with Crohn's disease are at increased risk for cancer at a number of organ sites. We studied the association between the 3020insC allele of the NOD2 gene and cancer among 2604 cancer patients and 1910 controls from Poland. Patients were diagnosed with one of twelve types of cancer in the Szczecin region between 1994 and 2004. Significant associations were found for colon cancer (OR = 1.8; 95% CI 1.2 to 2.6), for lung cancer (OR = 1.7; 95% CI = 1.1 to 2.5) and for ovarian cancer (OR = 1.6; 95% CI 1.1 to 2.3). In addition, a significant association was found for early-onset laryngeal cancer (OR = 2.9; 95% CI 1.4 to 6.2) and for breast cancer in the presence of DCIS (OR = 2.1 95% CI = 1.2 to 3.6). The NOD2 3020insC allele is relatively common (in Poland 7.3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles.

Abstract: Cytogenetic analysis was performed of six monophasic synovial sarcomas (four primary, two recurrent tumors) and one recurrent poorly differentiated synovial sarcoma with complex tumor-specific t(X;18). In the complex translocations, besides chromosomes X and 18, the following chromosomes were involved: 1, 3, 5, 15, and 17. In all, taking these results together with findings of 20 previously published synovial sarcoma tumors with complex t(X;18), 13 different chromosomes were involved. Chromosomes 15 (22% of tumors) and 1, 5, and 12 (∼11% each) were the most frequently involved in complex translocation, but with different breakpoints. In our laboratories, complex tumor-specific t(X;18) ranged from 2.5% to 11.7% (average 6.5%) of synovial sarcoma karyotypes. [Copyright &y& Elsevier]