Multigene germline and somatic testing for epithelial ovarian cancer in China

Lei Li; Jianwei Zhang; Nan Song; Bao Sun; Depu Zhang; Yi Li; Yunong Gao; Kui Wu; Qingshui Li; Cong Lin; Heng Cui; Boyang Cao; Lusheng Wang; Kang Shao; Yan You; Huanwen Wu; Jinghe Lang; Ming Wu

doi:10.1038/s41698-025-01074-6

Multigene germline and somatic testing for epithelial ovarian cancer in China

Lei Li (Co-first Author), Jianwei Zhang (Co-first Author), Nan Song, Bao Sun, Depu Zhang, Yi Li, Yunong Gao, Kui Wu, Qingshui Li, Cong Lin, Heng Cui, Boyang Cao, Lusheng Wang, Kang Shao^*, Yan You, Huanwen Wu, Jinghe Lang, Ming Wu^*

^*Corresponding author for this work

CityUHK Shenzhen Research Institute

Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

Abstract

This study investigated BRCA1/2 and homologous recombination repair (HR) pathway gene variants in Chinese epithelial ovarian cancer (EOC) patients. Germline and somatic variants in 21 HR-related genes were analyzed in 229 patients using a 21-gene ovarian panel and in 141 patients using a 508-gene pan-cancer panel. BRCA1, BRCA2, and HR-related gene mutation rates were 17.9%, 3.5%, and 23.1%, respectively, with TP53 as the most frequent somatic mutation (66.4%). Combined germline and somatic BRCA1/2 mutation rates rose to 23.6 and 6.1%. Survival analysis (n = 200) demonstrated longer overall survival (OS) in patients carrying BRCA1/2 or HR mutations. Notably, strategies including likely pathogenic (LP) and variants of uncertain significance (VUS) showed improved OS, especially in BRCA2 and BRCA1/2 somatic carriers. These findings suggest that integrating germline, somatic, and VUS data enhances survival prediction and guides treatment decisions in Chinese EOC patients. © The Author(s) 2025.

Original language	English
Article number	281
Number of pages	9
Journal	npj Precision Oncology
Volume	9
Online published	13 Aug 2025
DOIs	https://doi.org/10.1038/s41698-025-01074-6
Publication status	Published - 2025

Funding

This study is supported by the Independent Research Fund of State Key Laboratory of Complex, Severe and Rare Diseases in Peking Union Medical College Hospital (2025-I-ZD-001 and 2025-O-ZD-003), by the Key Research Project of Beijing Natural Science Foundation (No. Z220013), by the CAMS Innovation Fund for Medical Sciences (CIFMS) (No. 2024-I2M-C&T-B-029), by the National High Level Hospital Clinical Research Funding (2022-PUMCH-B-083, 2022-PUMCH-C-010, 2022-PUMCH-C-022 and 2022-PUMCH-D-003), by the National Key Clinical Specialty Construction Project (No. U114000), and by Peking Union Medical College Hospital Talent Cultivation Program (Category D) (No. UHB12577).

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This full text is made available under CC-BY-NC-ND 4.0. https://creativecommons.org/licenses/by-nc-nd/4.0/

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "Multigene germline and somatic testing for epithelial ovarian cancer in China",

abstract = "This study investigated BRCA1/2 and homologous recombination repair (HR) pathway gene variants in Chinese epithelial ovarian cancer (EOC) patients. Germline and somatic variants in 21 HR-related genes were analyzed in 229 patients using a 21-gene ovarian panel and in 141 patients using a 508-gene pan-cancer panel. BRCA1, BRCA2, and HR-related gene mutation rates were 17.9%, 3.5%, and 23.1%, respectively, with TP53 as the most frequent somatic mutation (66.4%). Combined germline and somatic BRCA1/2 mutation rates rose to 23.6 and 6.1%. Survival analysis (n = 200) demonstrated longer overall survival (OS) in patients carrying BRCA1/2 or HR mutations. Notably, strategies including likely pathogenic (LP) and variants of uncertain significance (VUS) showed improved OS, especially in BRCA2 and BRCA1/2 somatic carriers. These findings suggest that integrating germline, somatic, and VUS data enhances survival prediction and guides treatment decisions in Chinese EOC patients. {\textcopyright} The Author(s) 2025.",

author = "Lei Li and Jianwei Zhang and Nan Song and Bao Sun and Depu Zhang and Yi Li and Yunong Gao and Kui Wu and Qingshui Li and Cong Lin and Heng Cui and Boyang Cao and Lusheng Wang and Kang Shao and Yan You and Huanwen Wu and Jinghe Lang and Ming Wu",

year = "2025",

doi = "10.1038/s41698-025-01074-6",

language = "English",

volume = "9",

journal = "npj Precision Oncology",

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TY - JOUR

T1 - Multigene germline and somatic testing for epithelial ovarian cancer in China

AU - Li, Lei

AU - Zhang, Jianwei

AU - Song, Nan

AU - Sun, Bao

AU - Zhang, Depu

AU - Li, Yi

AU - Gao, Yunong

AU - Wu, Kui

AU - Li, Qingshui

AU - Lin, Cong

AU - Cui, Heng

AU - Cao, Boyang

AU - Wang, Lusheng

AU - Shao, Kang

AU - You, Yan

AU - Wu, Huanwen

AU - Lang, Jinghe

AU - Wu, Ming

PY - 2025

Y1 - 2025

N2 - This study investigated BRCA1/2 and homologous recombination repair (HR) pathway gene variants in Chinese epithelial ovarian cancer (EOC) patients. Germline and somatic variants in 21 HR-related genes were analyzed in 229 patients using a 21-gene ovarian panel and in 141 patients using a 508-gene pan-cancer panel. BRCA1, BRCA2, and HR-related gene mutation rates were 17.9%, 3.5%, and 23.1%, respectively, with TP53 as the most frequent somatic mutation (66.4%). Combined germline and somatic BRCA1/2 mutation rates rose to 23.6 and 6.1%. Survival analysis (n = 200) demonstrated longer overall survival (OS) in patients carrying BRCA1/2 or HR mutations. Notably, strategies including likely pathogenic (LP) and variants of uncertain significance (VUS) showed improved OS, especially in BRCA2 and BRCA1/2 somatic carriers. These findings suggest that integrating germline, somatic, and VUS data enhances survival prediction and guides treatment decisions in Chinese EOC patients. © The Author(s) 2025.

AB - This study investigated BRCA1/2 and homologous recombination repair (HR) pathway gene variants in Chinese epithelial ovarian cancer (EOC) patients. Germline and somatic variants in 21 HR-related genes were analyzed in 229 patients using a 21-gene ovarian panel and in 141 patients using a 508-gene pan-cancer panel. BRCA1, BRCA2, and HR-related gene mutation rates were 17.9%, 3.5%, and 23.1%, respectively, with TP53 as the most frequent somatic mutation (66.4%). Combined germline and somatic BRCA1/2 mutation rates rose to 23.6 and 6.1%. Survival analysis (n = 200) demonstrated longer overall survival (OS) in patients carrying BRCA1/2 or HR mutations. Notably, strategies including likely pathogenic (LP) and variants of uncertain significance (VUS) showed improved OS, especially in BRCA2 and BRCA1/2 somatic carriers. These findings suggest that integrating germline, somatic, and VUS data enhances survival prediction and guides treatment decisions in Chinese EOC patients. © The Author(s) 2025.

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U2 - 10.1038/s41698-025-01074-6

DO - 10.1038/s41698-025-01074-6

M3 - RGC 21 - Publication in refereed journal

SN - 2397-768X

VL - 9

JO - npj Precision Oncology

JF - npj Precision Oncology

M1 - 281

ER -

Multigene germline and somatic testing for epithelial ovarian cancer in China

Abstract

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