Germline Testing for the Evaluation of Hereditary Cancer Predisposition

被引:0
|
作者
Ceyhan-Birsoy, Ozge [1 ,2 ]
机构
[1] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10065 USA
[2] Mem Sloan Kettering Canc Ctr, Lab Med, 1275 York Ave, New York, NY 10065 USA
关键词
Genetic testing; Cancer; Hereditary cancer predisposition; Germline testing; GENETIC PREDISPOSITION; CARRIER FREQUENCY; MEDICAL GENETICS; AMERICAN-COLLEGE; MUTATIONS; GENOMICS; TUMOR; DNA; RECOMMENDATIONS; GUIDELINES;
D O I
10.1016/j.cll.2022.04.007
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Germline genetic testing can guide the treatment of patients with cancer and allow surveillance and/or prophylactic interventions to reduce future disease risk in patients and their family members. Offering universal genetic testing to wider groups of patients with cancer may allow more larger groups of patients to take advantage of these benefits. However, questions and challenges remain regarding the cost-effectiveness of comprehensive testing in individuals with different types of cancers and the impact of inconclusive test results due to variants of uncertain significance. Further studies on broader cohorts will elucidate the optimal testing strategies for diverse patient populations.
引用
收藏
页码:497 / 506
页数:10
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