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重庆成立“肿瘤遗传咨询门诊” 评估肿瘤遗传风险
2017-08-31 18:20:54 中国青年网
新华社重庆8月31日电(记者黎华玲)重庆日前成立“肿瘤遗传咨询门诊”,设在重庆市肿瘤医院,旨在为咨询者分析评估肿瘤遗传风险,普及肿瘤遗传相关知识,提供肿瘤预防、筛查方案及遗传学检测等服务。
门诊每周三上午开诊,由妇瘤科、乳腺科、胃肠外科、消化内科、病理科、肿瘤学实验室等多科室专家联合组成。
重庆市肿瘤防治办公室主任、遗传咨询师周琦介绍,肿瘤遗传咨询是通过肿瘤临床医师、实验诊断师和遗传学专家询问家族史,勾画家系图谱,从遗传学角度分析和评估肿瘤遗传风险,解读实验诊断报告,为咨询者提供肿瘤预防、筛查方案及遗传学检测相关信息等服务。
周琦说,从遗传学角度来讲,可将肿瘤划分为遗传性肿瘤和有遗传倾向的肿瘤(肿瘤遗传易感性)。对遗传性肿瘤而言,遗传因素在肿瘤的发生发展中扮演重要作用。而有遗传倾向的肿瘤(肿瘤遗传易感性)则是指某个家族家系有多重肿瘤发生的情况,但不具备遗传基因的携带和遗传,这是目前还没有被认识到的大片段基因缺失或遗传。
每种遗传性肿瘤的发生都与其特异性基因突变相关,而出现基因突变的人群在一生中罹患肿瘤的风险远远高于普通人群。重庆市肿瘤医院遗传咨询师易琳指出,科学研究证据表明,5%至10%的癌症是基因的种系突变导致的,通常具有家族聚集性。也就是说,一个家族中有多个成员患有同一种肿瘤或几种肿瘤,这种现象称为遗传性癌症综合征,具有发病早、恶性程度高和多发性等特点。
目前,比较肯定的遗传性肿瘤有遗传性乳腺癌、遗传性卵巢癌、遗传性结直肠癌、遗传性子宫内膜癌等。如果做了预防性乳腺切除,可以使乳腺癌发生率下降93%。专家表示:“目前仅极少人群得到高质量的遗传咨询和检测服务,肿瘤遗传咨询门诊的开设将极大改善这一状况。”
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