BRCA and Breast Cancer-Related High-Penetrance Genes

Sang Ah Han, Sung Won Kim

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Genetic susceptibility explains 5–10% of all breast cancer cases. High-penetrance breast cancer susceptibility genes deliberate a greater than tenfold relative risk of breast cancer. BRCA1 and BRCA2 genes are the most common cause of hereditary breast cancer, and TP53, PTEN, and SKT11 (LKB1) are rarely present. The prevalence of BRCA1 and BRCA2 genetic alterations differ in various ethnic groups. The Korean Hereditary Breast Cancer (KOHBRA) Study, nationwide-scale study, was established to acquire evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in Korea prospectively since 2007. In this chapter, we review previous research related to hereditary breast cancer and summarize the present concepts and research results centered on the Korean Hereditary Breast Cancer Research at this time.

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
Number of pages18
Publication statusPublished - 2021

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019


  • BRCA1/2
  • Breast cancer
  • Genetic susceptibility
  • KOHBRA study
  • PTEN
  • STK11
  • TP53


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