The use of panel testing in familial breast and ovarian cancer

被引：6

作者：

Prapa, Matina ^{[1
]}

Solomons, Joyce ^{[2
]}

Tischkowitz, Marc ^{[1
,3
]}

机构：

[1] East Anglian Med Genet Serv, Med Genet, Cambridge, England

[2] Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Med Genet, Oxford, England

[3] Univ Cambridge, Acad Dept Med Genet, Med Genet, Cambridge, England

来源：

CLINICAL MEDICINE | 2017年 / 17卷 / 06期

关键词：

HEREDITARY BREAST; SUSCEPTIBILITY GENES; TRUNCATING VARIANTS; MUTATIONS; BRIP1;

D O I：

10.7861/clinmedicine.17-6-568

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Advances in sequencing technology have led to the introduction of panel testing in hereditary breast and ovarian cancer. While direct-to-consumer testing services have become widely available, the clinical validity of many of the genes on panel tests remains contentious and risk management guidelines are often lacking. This article gives an overview of advantages with panel testing as well as important challenges, including clinical translation of test results.

引用

页码：568 / 572

页数：5

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