From Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania; Department of Internal Medicine, Division of Human Genetics, Ohio State University Comprehensive Cancer Center, Columbus, Ohio; Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee; and Division of Population Science, Department of Medical Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania.
J Natl Compr Canc Netw. 2014 Sep;12(9):1339-46. doi: 10.6004/jnccn.2014.0128.
Next-generation sequencing technologies have ushered in the capability to assess multiple genes in parallel for genetic alterations that may contribute to inherited risk for cancers in families. Thus, gene panel testing is now an option in the setting of genetic counseling and testing for cancer risk. This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations. Given the potential issues for patients and their families, gene panel testing for inherited cancer risk is recommended to be offered in conjunction or consultation with an experienced cancer genetic specialist, such as a certified genetic counselor or geneticist, as an integral part of the testing process.
下一代测序技术使我们能够同时评估多个基因的遗传改变，这些改变可能导致家族遗传性癌症风险。因此，基因panel 测试现在是遗传咨询和癌症风险检测中的一种选择。本文描述了许多临床可用的基因panel 测试选项，用于评估遗传性癌症易感性，各种类型的panel 相关的潜在优势和挑战，以及在癌症风险评估中基因panel 可能特别有用的临床情况，以及测试和咨询注意事项。鉴于患者及其家属可能存在的问题，建议与经验丰富的癌症遗传专家（如认证遗传咨询师或遗传学家）合作或咨询，共同提供遗传性癌症风险的基因panel 测试，作为测试过程的一个组成部分。
