Cancer Susceptibility Candidate 2 (CASC2)

CASC2, located in a candidate deletion interval on chromosome 10 associated with endometrial cancer. By RT-PCR and 5-prime and 3-prime RACE of placenta mRNA, they cloned 1 of the variants, CASC2a, which encodes a deduced 102-amino acid protein with a calculated molecular mass of about 12 kD. CASC2a contains no transmembrane domain and is likely expressed in the nucleus. Northern blot analysis detected 1.7- and 4.3-kb CASC2 transcripts in all tissues examined. expression of CASC2a was downregulated in endometrial or colorectal cancers relative to normal tissues, and it was expressed in cancer cell lines at an even lower level. The authors identified 3 CASC2a mutations in 44 endometrial cancers (7%), a low mutation rate that suggested that inactivation of CASC2 is likely due to mechanisms other than genetic alteration.