遗传性妇科肿瘤检测
疾病介绍 遗传性妇科肿瘤包括乳腺癌、卵巢癌和子宫内膜癌。
乳腺癌SHIZHONGGUONVXINGFABINGLVZUIGAODEEXINGZHONGLIU，ZHONGGUOMEITIANBEIQUEZHENWEIRUXIANAIDERENSHUKEDA512MING，BEIZHENDUANWEIRUXIANAIDEPINGJUNNIANLINGWEI45-55SUI，BIXIFANGNVXINGGENGJIANIANQING。
卵巢癌BINGSILVGAOJUWOGUOFUKEEXINGZHONGLIUZHISHOU，LUANCHAOAIFABINGLVWEI4.1/10WAN，SIWANGLVWEI1.7/10WAN，LUANCHAOAIZONGTI5NIANSHENGCUNLVXIAOYU30%。
子宫内膜癌JUWOGUOFUKEEXINGZHONGLIUDEDIERWEI，JU2015NIANGUOJIAAIZHENGZHONGXINTONGJI，ZIGONGNEIMOAIDEFABINGLVWEI63.4/10WAN，SIWANGLV21.8/10WAN。
普通女性终生罹患卵巢癌和乳腺癌的风险分别为1.3%和12.3%，携带BRCA1或BRCA2基因突变的女性，终生罹患上述两种癌症的风险显著增加。终生罹患卵巢癌风险仅为1.3%，乳腺癌的风险约为12.3%。但是BRCA1或BRCA2基因突变的女性，其终生罹患上述两种癌症的风险显著增加。BRCA基因的细胞突变的携带者其子宫内膜癌发病风险增加，PTENJIYINDETUBIANYEYUZIGONGNEIMOAIDEFABINGYOUGUAN。
FUKEZHONGLIUXIANGGUANJIYINDEPEIXITUBIANJIANCEDUIRUXIANAI、LUANCHAOAIHEZIGONGNEIMOAIDEFENGXIANPINGGUHEZHIDINGGEXINGHUADEYUFANGZHILIAOCUOSHIJUYOUZHONGYAOYIYI。
检测意义 · DUIYICHUANXINGFUKEZHONGLIUHUANZHEJINXINGZAOQIZHENDUANHEJIANBIEZHENDUAN，TONGGUOSHENGHUOFANGSHIGANYUHEYUFANGXINGZHILIAO，JIANGDIAIZHENGFASHENGDEFENGXIAN；
· DUIQUEDINGYOUYICHUANXINGFUKEZHONGLIUJIBINGFENGXIANDEJIAZUCHENGYUANJINXINGZAOQISHAICHA，KEYIQUEDINGTAMENDEZHONGLIUFASHENGFENGXIAN，BINGTONGGUOSHENGHUOFANGSHIGANYUHEYUFANGXINGZHILIAO，JIANGDIZHONGLIUFASHENGDEFENGXIAN；
· DUIYOUMINGQUEZHIBINGWEIDIANDEHUANZHE，RUYOUSHENGYUHOUDAIDEXUQIU，KEZHIDAOQICAIQUZAOQIYUNJIANHUOPEITAIZHIRUQIANYICHUANXUEZHENDUANDENGCUOSHI，JIANSHAOHUANBINGFENGXIANDECHUANDI；
· TONGGUODUOJIYINZUHEJIANCEJISHU，NENGGOUSHAIXUANCHUXUDUOKENENGBEICHUANTONGJIANCESHOUDUANYILOUDEZHONGLIUHUANZHE。
适应人群 · RUXIANAIHUANZHEZHENDUANNIANLINGXIAOYU45SUI，SANYINXINGRUXIANAIHUANZHEZHENDUANNIANLINGXIAOYU60SUI；
· LINCHUANGZHENDUANHUOYISIYICHUANXINGZIGONGNEIMOAIDEHUANZHE；
· RENHENIANLINGDELUANCHAOAIHUANZHE；
· JIAZUZHONGYOU2MINGHUODUOMINGQINSHUHUANYOUFUKEZHONGLIUDEGAOWEIRENQUN；
· YONGYOUZHUDONGJIANKANGYISHI、DUIJIANKANGFUWUYOUTEBIEXUQIUDERENQUN。
检测内容 本检测CAIYONGJIYINZUHE（gene panel）DEJIANCEFANGFA，FUGAIRUXIANAI、LUANCHAOAI、ZIGONGNEIMOAI3ZHONGYICHUANXINGZHONGLIUXIANGGUANDE42GEJIYIN。
样本类型 WAIZHOUXUE（EDTAGUAN）
参考文献 1. Koh WJ, Abu-Rustum NR, et al. Cervical Cancer, Version 3.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2019, 17(1): 64-84.
2. Gradishar WJ, Anderson BO, et al. Breast Cancer, Version 4.2017, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2018, 16(3): 310-320.
3. Daly MB, Pilarski R, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. J Natl Compr Canc Netw. 2017, 15(1): 9-20.
4. Nielsen FC, van Overeem Hansen T, et al. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer. 2016, 16(9): 599-612.
5. 中国医师协会精准治疗乳腺癌专业委员会等. 中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2018版). 中国癌症杂志, 2018, 28(10): 787-800.
最后更新于：2020年03月
基因检测
