Genomic Instability Study on the Japanese Familial Ovarian Cancer without Germline Mutation of BRCA1 or BRCA2 by Loss of Heterozygosity Analysis

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  • TSUNEKI,Ikunosuke
    Department of Obstetrics and Gynecology, Niigata University School of Medicine

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  • BRCA1, BRCA2遺伝子に異常を認めない家族性上皮性卵巣癌症例におけるLoss of heterozygosity(LOH)解析による遺伝子不安定性に関する研究

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Objective and Methods : In order to explore whether novel genes have been contributing to carcinogenesis of familial ovarian cancer in which no germline mutation of BRCA1 nor BRCA2 is found in the form of a tumor suppressor gene, we have attempted to perform loss of heterozygosity(LOH)analysis with 160 microsatellite markers. The average intermarker distance was approximately 20cM. Results : We ascertained and performed direct sequencing of available in all 63 fumilies for mutational I analysis in BRCA1 and BRCA2. Among 63 families, no germline mutation of BRCA1 or BRCA2 gene was detected in 40 affected patients in 19 families. The mean age at diagnosis of patients with tumors with no mutation, 45.7 years, was significantly younger than in the control cases, 54.2 years(p=0.0001). It was observed that the frequency of LOH was more than 500% only in tumor tissues from patients with no mutation but not in those with sporadic ovarian cancer in 5 regions ; 5p13-q31, 8pter-p12, 8q24-qter, 13q12-34, and 17 p13-q25. Conclusions : These results suggest the possibility that novel susceptibility genes for familial ovarian cancer exist in one of the 4 regions.

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