@article{oai:niigata-u.repo.nii.ac.jp:00015916, author = {相田, 浩}, issue = {9}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Sep}, note = {Several lines of epidemiological study have suggested the presence of a genetic factor for carcinogenesis in familial ovarian cancer. The BRCA1 gene has been isolated for susceptibility to breast and/or ovarian cancer families and more than a hundred of mutation have been reported in the families. We collected 35 site-specific ovarian cancer families and 21 breast-ovarian cancer families. The mutations of BRCA1 were detected in 11 site-specific ovarian cancer families and 16 breast-ovarian cancer families in our study. A nonsense mutation which changes T to A at nucleotide position 307 in 5 families and another nonsense mutation which changes C to T at nucleotide position 2919 in 4 families were detected. These mutations might be common in Japanese population. Since the mutation of BRCA1 had not been detected in almost sitespecific ovarian cancer families and a part of breast-ovarian cancer families, it is possible that another genes might contribute to carcinogenesis in those. We analyzed twenty-three families without the BRCA1 mutation by the linkage analysis to identify the genetic region. Because most of the families have only two patients, we performed the non-parametric linkage analysis. These families have been typed for 340 autosomal microsatellite markers throughout the genome. There is no evidence of the linkage for BRCA2, MLH1 and MSH2 which are the susceptibility genes to hereditary non-polyposis colorectal cancer syndrome.}, pages = {418--425}, title = {家族性上皮性卵巣癌における関連遺伝子に関する研究}, volume = {113}, year = {1999} }