Journal of Breast Disease 2016;4(1):1-9

doi:10.14449/jbd.2016.4.1.1

Clinical Implications of Genetic Testing for Hereditary Breast and Ovarian Cancer Syndrome in the Era of Genomic Medicine: Clinician's Perspectives.

Hyung Seok PARK 1 ; Ji Soo PARK ; Eun Ji NAM ; Seung Tae LEE ; Jung Woo HAN ; Tae Il KIM

Affiliations

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Keywords

BRCA1; BRCA2; Breast neoplasms; Genes; High-throughput nucleotide sequencing

Country

Republic of Korea

Language

Korean

Abstract

Hereditary breast and ovarian cancer syndrome accounts for approximately 5% to 10% of breast or ovarian cancers, with which the high-penetrant BRCA1/2 genes have been associated. With the recent development of next-generation sequencing (NGS), germline mutation testing and its related medical and surgical management have been rapidly changing. In this review, we summarize the current status and perspectives of NGS testing for not only BRCA1/2 but also the other breast and ovarian cancer susceptibility genes.