山西医科大学学报2018，Vol.49Issue(2)：169-174,6.DOI:10.13753/j.issn.1007-6611.2018.02.015
遗传性乳腺癌-卵巢癌综合征1例家系易感基因的初步筛选
Preliminary screening of susceptible genes in a family with hereditary breast cancer and ovarian cancer syndrome
摘要
Abstract
Objective To screen the susceptibility genes of a family with hereditary breast and ovarian cancer syndrome(HBOC). Methods Four of 46 members of the 4-generation pedigree suffered from dual-tumor of breast and ovarian cancer,and one was bilateral ovarian cancer. Whole exome sequencing(WES)was performed in three core members,and their mutations were annotated and ana-lyzed. The data of breast cancer and ovarian cancer patients were downloaded from the cancer genome atlas(TCGA)and gene expres-sion omnibus(GEO)databases to analyze mRNA expression data. Results The mutation sites of WES were screened by dbSNP,and 16 mutated genes related to disease were obtained. The FAM83E gene mutation(NM-017708:p.Ser387Gly)was validated in all the present patients by re-sequencing of the other seven members. Further bioinformatics analysis of TCGA and GEO data showed that FAM83E gene expression in breast cancer and ovarian cancer was significantly higher than that in adjacent normal tissue. Conclusion FAM83E gene may play an important role in the development of breast cancer and ovarian cancer,which is worthy of further study.关键词
乳腺癌/卵巢癌/易感基因/全外显子组测序/FAM83E基因Key words
breast cancer/ovarian cancer/susceptibility gene/whole exome sequencing/FAM83E分类
医药卫生引用本文复制引用
孙丽,张有为,曹苏生,张培影,孙三元..遗传性乳腺癌-卵巢癌综合征1例家系易感基因的初步筛选[J].山西医科大学学报,2018,49(2):169-174,6.基金项目
徐州市科技局社会发展重点项目(KC15SX005) （KC15SX005）
国家自然科学基金面上项目(81472615) （81472615）
