Should multi-gene panel testing replace limited BRCA1/2 testing?A review of genetic testing for hereditary breast and ovarian cancers

• 作者: Kimberly C Banks Nimmi S Kapoor
• 来源期刊: 世界外科手术杂志
• 学科: 医学
• 关键词: PANEL TESTING Genetic TESTING BRCA BREAST cancer
• 年，卷（期）: 2016,（1）
• 页码范围: 13-18
• 页数: 6页
• 分类号: R

摘要

Clinical testing of patients for hereditary breast and ovarian cancer syndromes began in the mid-1990s with the identification of the BRCA1 and BRCA2 genes.Since then,mutations in dozens of other genes have been correlated to increased breast,ovarian,and other cancer risk.The following decades of data collection and patient advocacy allowed for improvements in medical,legal,social,and ethical advances in genetic testing.Technological advances have made it possible to sequence multiple genes at once in a panel to give patients a more thorough evaluation of their personal cancer risk.Panel testing increases the detection of mutations that lead to increased risk of breast,ovarian,and other cancers and can better guide individualized screening measures compared to limited BRCA testing alone.At the same time,multi-gene panel testing is more time-and cost-efficient.While the clinical application of panel testing is in its infancy,many problems arise such as lack of guidelines for management of newly identified gene mutations,high rates of variants of uncertain significance,and limited ability to screen for some cancers.Through on-going concerted efforts of pooled data collection and analysis,it is likely that the benefits of multi-gene panel testing will outweigh the risks in the near future.