Insights into Chinese prostate cancer germline gene mutation profile: HOXB13 G84E mutation is unsuitable for genetic testing.

Authors

null

Baijun Dong

Shanghai Jiaotong University School of Medicine Renji Hospital, Shanghai, China

Baijun Dong , Bin Yang , Yonghong Li , Wei Chen , Jing Li , Zhenzhou Xu , Kaijie Wu , Fengbo Zhang , Shimiao Zhu , Lu Yi , Lixin Hua , Hao PAN , Hong Ma , Zhongquan Sun , Huihua Cheng , Zhenting Zhang , Mingzhao Li , Zhiwen Chen , Fangqin Wang , Wei Xue

Organizations

Shanghai Jiaotong University School of Medicine Renji Hospital, Shanghai, China, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China, Sun Yat-sen University Cancer Center, Guangzhou, China, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China, Changhai Hospital, Shanghai, China, Hunan Cancer Hospital, Changsha, China, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China, Beijing Friendship Hospital Affiliated to Capital Medical University, Beijing, China, The Second Hospital Affiliated to Tianjin Medical University, Tianjin, China, The Second Xiangya Hospital of Central South University, Changsha, China, Jiangsu Province Hospital, Nanjing, China, The First Affiliated Hospital, Medicine School of Zhejiang University, Hangzhou, China, Beijing Hospital, Beijing, China, Shanghai Huadong Hospital, Shanghai, China, Fuzhou General Hospital, Fuzhou, China, Tianjin Medical University Cancer Hospital, Tianjin, China, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China, Southwest Hospital, Chongqing, China, GloriousMed Technology Co., Ltd., Shanghai, China

Research Funding

No funding received
None

Background: Philadelphia Prostate Cancer Consensus Conference 2017 developed an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA. However, the consensus was mainly based on data from Caucasian populations. Genetic differences in the PC molecular landscape between Asian and Caucasian men have been established. Whether Caucasian-based genetic information can be used to guide clinical practice in Chinese population needs further evidence. Methods: 1123 patients with confirmed prostate cancer admitted from March 2018 to August 2019 from 18 Chinese centers were included in this retrospective study. We sequenced the association of 50 gene with prostate cancer risk, clinical treatment implications and predisposition, focusing on DNA repair gene and genetic susceptibility genes pathogenic mutations in Philadelphia Prostate Cancer Consensus Conference. Only protein-truncating alterations (nonsense/stop-gains, frameshift insertions and deletions, and donor and acceptor splice-site mutations) were coded as pathogenic or likely pathogenic protein-truncating alterations. Results: Among all cases, DNA repair gene pathogenic mutations were found in 133 men (11.84%), including BRCA2 (62 [5.5%]), ATM (15 [1.3%]), PALB2 (11 [0.97%]), GEN1 (7 [0.62%]), BRCA1 (6 [0.53%]), MLH3 (4 [0.35%]), MUTYH (4 [0.35%]), PMS1 (4 [0.35%]), RAD50 (4 [0.35%]), ATR (3 [0.27%]), CHEK2 (3 [0.27%]), FANCD2 (3 [0.27%]) etc. Similar germline DRG mutation frequencies were observed between our cohort and Caucasian men. Noticeably, G84E mutation in HOXB13, a rare but recurrent missense mutation associated with a significantly increased risk of hereditary prostate cancer was not found in our cohort of patients. Furthermore, the frequency of HSD3B1 (1245C) allele in the Chinese patients is much lower than that in the Caucasian populations (11.7% vs 63%). Conclusions: Our study retrospectively analyzed germline mutation profile of prostate cancer in Chinese population. The frequency of HSD3B1 (1245C) allele varies across ethnic populations in spite of the similar DNA repair gene mutations rates. Considering the gene list should be tested based on clinical/familial scenarios from the Philadelphia Prostate Cancer Consensus Conference, a prevalence of certain mutations, G84E mutation in HOXB13 was unnecessary for genetic testing in Chinese population.

Disclaimer

This material on this page is ©2024 American Society of Clinical Oncology, all rights reserved. Licensing available upon request. For more information, please contact licensing@asco.org

Abstract Details

Meeting

2020 ASCO Virtual Scientific Program

Session Type

Publication Only

Session Title

Publication Only: Genitourinary Cancer—Prostate, Testicular, and Penile

Track

Genitourinary Cancer—Prostate, Testicular, and Penile

Sub Track

Epidemiology/Outcomes

Citation

J Clin Oncol 38: 2020 (suppl; abstr e17515)

DOI

10.1200/JCO.2020.38.15_suppl.e17515

Abstract #

e17515

Abstract Disclosures

Similar Abstracts

First Author: Rui Miguel Bernardino

Abstract

2023 ASCO Annual Meeting

Spectrum of germline pathogenic variants among patients with cancer in Mexico.

First Author: Jose Luis Rodriguez Olivares

First Author: Anna Couvillon

First Author: Nikolaos Tsoulos