PDF(Pubmed)
Abstract：
The increasing availability of genomic sequencing of tumor tissue in oncology provided valuable insights into tumor evolution and offered clinicians the unprecedented opportunity to tailor therapies on each individual patient, according to the treatment-impacting alterations identified in the tumor cells. In addition to the characterization of somatic alterations in tumor samples, the identification of germline (i.e., constitutional) pathogenic variants can provide additional information to guide informed and personalized therapeutic planning for patients and to enable risk-based screening protocols for at-risk relatives. In genitourinary malignancies, only a few associations between germline mutations and cancer risk and behavior have been thoroughly investigated (e.g., alterations in DNA repair genes in prostate cancer or mutations in Lynch syndrome genes in upper tract urothelial carcinoma). To achieve a wider use of both tumor genomic and germline genetic testing, an integrative approach led by scientific societies is necessary to involve physicians, patients and advocacy groups, to develop a shared strategy to advance the field and provide value-based and reproducible standards of care for patients and their families.
摘要：
肿瘤学中肿瘤组织基因组测序的日益普及为肿瘤的发展提供了宝贵的见解，并为临床医生提供了前所未有的机会，为每位患者量身定制治疗方法。根据肿瘤细胞中鉴定出的影响治疗的改变。除了表征肿瘤样品中的体细胞改变，种系的鉴定(即，宪法）致病变异可以提供额外的信息，以指导患者的知情和个性化治疗计划，并为有风险的亲属提供基于风险的筛查方案。在泌尿生殖系统恶性肿瘤中，仅对种系突变与癌症风险和行为之间的少数关联进行了彻底调查(例如，前列腺癌中DNA修复基因的改变或上尿路上皮癌中Lynch综合征基因的突变)。为了更广泛地使用肿瘤基因组和种系基因检测，由科学学会领导的综合方法对于让医生参与是必要的，患者和倡导团体，制定一个共同的战略来推进这一领域，并为患者及其家人提供基于价值和可重复的护理标准。
