J Breast Dis.  2016 Jun;4(1):1-9. 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

Affiliations
  • 1Department of Surgery, Yonsei University College of Medicine, Seoul, Korea. imgenius@yuhs.ac
  • 2Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Korea.
  • 3Women's Cancer Clinic, Division of Gynecologic Oncology, Institute of Women's Life Medical Science, Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea.
  • 4Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
  • 5Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
  • 6Division of Gastroenterology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.

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.

Keyword

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

MeSH Terms

Breast
Breast Neoplasms
Genetic Testing*
Germ-Line Mutation
Hereditary Breast and Ovarian Cancer Syndrome*
High-Throughput Nucleotide Sequencing
Ovarian Neoplasms
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