HBOC Syndrome



Hereditary Breast and Ovarian Cancer (HBOC) Syndrome

 

Prof. Park has been focusing on the management of HBOC syndrome. He is actively participating on the multidisciplinary team at the Cancer Prevention Center (CPC), Yonsei Cancer Center, Seoul, Korea. The multidisciplinary team consists of a surgical oncologist, a gynecologic oncologist, a clinical genetic specialist, a laboratory genetic specialist, and a medical oncologist. Cancer-predisposing genes such as BRCA1/2, ATM, BARD1, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53 are tested using not only Sanger and/or MLPA tests but also comprehensive NGS techniques. The multidisciplinary team offers state-of-art genetic counseling based on the updated clinical evidence and literature review of hereditary cancer-related genes. 


Discovery of p.Leu1780Pro (L1780P)
 

Prof. Park and his colleagues in the multidisciplinary team at CPC first identified the pathogenicity of L1780P. L1780P is a missense mutation of BRCA1. It was considered to be a variant of unknown significance. They evaluated the pathogenicity of L1780P according to the ACMG guidelines and revealed that L1780P is a pathogenic or likely pathogenic mutation of BRCA1, and particularly found in the Korean population with HBOC syndrome.  

Based on their discovery of the pathogenicity of L1780P, various laboratories now redefine L1780P as a pathogenic or likely pathogenic mutation of BRCA1. This finding was simultaneously reported by independent study groups including Samsung Medical Center and the National Cancer Center. Women with L1780P should be managed by an appropriate risk-reducing strategy for the HBOC syndrome.

 


 

Cancer Prevention Center at Yonsei Cancer Center, Severance Hospital

CPC at Yonsei Cancer Center provides various programs including genetic counseling for high-risk women, diet and exercise programs for cancer survivors, surveillance programs for long-term survivors, and screening tests for high-risk patients.