Loss of heterozygosity on the short arm of chromosome 3 in carcinoma of the uterine cervix.

Loss of genes at specific chromosomal loci is a common genetic alteration in human tumors and is thought to be critical for unmasking the recessive genetic changes for tumorigenesis. To learn whether such recessive mutations are involved in the development of carcinoma of the uterine cervix, 18 fresh tumors were analyzed by Southern blot hybridization using 34 polymorphic DNA markers covering 19 different chromosomes. We found loss of heterozygosity at the D3S2 locus on chromosome 3p in all nine patients who could be evaluated. Human papillomavirus type 16 and type 18 were present in seven and three of 18 tumors, respectively, while no amplification of 13 oncogenes, including c-myc and H-ras, was detected in these tumors. These results suggest that recessive genetic changes on chromosome 3p are one of the important genetic alterations for the development of carcinoma of the uterine cervix. Since this locus is also lost commonly in lung cancer and in renal cell carcinoma, it is possible that these three different types of adult tumors result from mutations of the same recessive gene on chromosome 3p.