Abstract：
UNASSIGNED: A genetic predisposition seems to be involved in biliary tract cancer, but the prevalence of germline mutations in BTC remains unclear, and the therapeutic role of the germline pathologic variants is still unknown.
UNASSIGNED: The aim of the present work is to systematically review the data available on the hereditary predisposition of biliary tract cancer by a specific research on PubMed, in order to highlight the most important critical points and to define the current possible role of germinal testing and genetic counseling in this setting of patients.
UNASSIGNED: Basing on data already available, we decided to start in our institution a specific genetic protocol focused on biliary tract cancer patients, which includes genetic counseling and, if indicated, germline test. The inclusion criteria are: 1) Patient with personal history of oncologic disease other than BTC, 2) Patient with familiar history of oncologic disease (considering relatives of first and second grade), 3) Patient with ≤ 50 years old, 4) Patient presenting a somatic mutation in genes involved in DNA damage repair pathways and mismatch repair. The aim of the presented protocol is to identify germline pathogenic variants with prophylactic and therapeutic impact, and to collect and integrate a significant amount of clinical, familial, somatic, and genetic data.
UNASSIGNED: The aim of the present work is to systematically review the data available on the hereditary predisposition of biliary tract cancer by a specific research on PubMed, in order to highlight the most important critical points and to define the current possible role of germinal testing and genetic counseling in this setting of patients.
UNASSIGNED: Basing on data already available, we decided to start in our institution a specific genetic protocol focused on biliary tract cancer patients, which includes genetic counseling and, if indicated, germline test. The inclusion criteria are: 1) Patient with personal history of oncologic disease other than BTC, 2) Patient with familiar history of oncologic disease (considering relatives of first and second grade), 3) Patient with ≤ 50 years old, 4) Patient presenting a somatic mutation in genes involved in DNA damage repair pathways and mismatch repair. The aim of the presented protocol is to identify germline pathogenic variants with prophylactic and therapeutic impact, and to collect and integrate a significant amount of clinical, familial, somatic, and genetic data.
摘要：
■遗传易感性似乎与胆道癌有关，但是BTC中种系突变的患病率仍不清楚，种系病理变异的治疗作用仍然未知。
■本工作的目的是通过对PubMed的一项特定研究，系统地回顾有关胆道癌遗传易感性的现有数据，为了突出最重要的关键点，并确定当前在这种情况下患者的生发检测和遗传咨询的可能作用。
■基于已有的数据，我们决定在我们的机构开始一项针对胆道癌症患者的特定遗传方案，其中包括遗传咨询，如果指示，种系测试。纳入标准是：1)除BTC外，有肿瘤疾病个人史的患者，2）熟悉肿瘤病史的患者（考虑一年级和二年级的亲属），3)≤50岁的患者,4)在涉及DNA损伤修复途径和错配修复的基因中呈现体细胞突变的患者。提出的方案的目的是确定具有预防和治疗作用的种系致病变体，并收集和整合大量的临床，家族性,体细胞和遗传数据。
■本工作的目的是通过对PubMed的一项特定研究，系统地回顾有关胆道癌遗传易感性的现有数据，为了突出最重要的关键点，并确定当前在这种情况下患者的生发检测和遗传咨询的可能作用。
■基于已有的数据，我们决定在我们的机构开始一项针对胆道癌症患者的特定遗传方案，其中包括遗传咨询，如果指示，种系测试。纳入标准是：1)除BTC外，有肿瘤疾病个人史的患者，2）熟悉肿瘤病史的患者（考虑一年级和二年级的亲属），3)≤50岁的患者,4)在涉及DNA损伤修复途径和错配修复的基因中呈现体细胞突变的患者。提出的方案的目的是确定具有预防和治疗作用的种系致病变体，并收集和整合大量的临床，家族性,体细胞和遗传数据。
