Progesterone receptor gene polymorphism and risk for breast and ovarian cancer

Sir, McKenna et al (March, 1995) used Southern analysis to identify a germline TaqI restriction fragment length polymorphism (RFLP) in intron G of the human progesterone receptor (hPR) defined by two alleles, TI and T2. The T2 allele contained an additional TaqI restriction site relative to TI, and was recently characterized as a 306 bp Alu element insertion and named PROGINS (Rowe et al, 1995). No functional consequences of this intronic insertion have been reported, but McKenna et al (1995) suggested that the T2 allele is over-represented in patients with ovarian carcinoma. Twenty-four out of 67 (36%) German and Irish patients with ovarian cancer were homozygous or heterozygous for the T2 allele, in contrast to only 38 out of 184 (21%) control subjects. To investigate this association in a Caucasian North-American population, we designed a PCR-based assay using forward (5'GGC AGA AAG CAA AAT AAA AAG A-3') and reverse (5'AAA GTA TTT TCT TGC TAA ATG TC-3') primers to amplify the region spanning the insertion. Leucocyte DNA was analysed