Locating a Prostate Cancer Susceptibility Gene on the X Chromosome by Linkage Disequilibrium Mapping Using Three Founder Populations in Quebec and Switzerland

摘要

At the Montreal site, 240 participants (195 cases) have consented to participate and 230 participants (185 cases) had their blood drawn. The pedigrees for cases and some controls have been drawn. Ishihara charts were shown to all cases and controls and the results were recorded. At the Switzerland site, case ascertainment is complete and 250 patients have been contacted; 185 have had a consultation with a DNA sampling. As the X chromosome gene has proved to be elusive, we have focused our attention on candidate genes and have studies CHEK2, PALB2, BRCA1, BRCA2 as well as other candidate genes in this series of cases. We have identified several novel mutations in CHEK2 and PALB2, but none of these mutations appear to be thus far associated with prostate cancer risk. Other known mutations, such as BRCA1: 187delAG and BRCA2: 6174delT do not appear to be more frequent in men with prostate cancer. Our work did not support the initial suggestion that some Ashkenazi Jewish men with prostate cancer carried a prostate cancer-associated allele on chromosome 7q. Prostate cancer genetics remains a difficult area of research; our work has mainly eliminated various candidate genes rather than identify causative mutations in prostate cancer susceptibility genes.