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Inherited mutations in Chinese patients with upper tract urothelial carcinoma

J. Wu, S. Jin, C. Gu, Y. Wei, Y. Zhu, A. Necchi, SF. Shariat, J. Pan, H. Gan, B. Dai, H. Zhang, G. Shi, Y. Zhu, Y. Shen, Y. Zhu, D. Ye

. 2023 ; 4 (1) : 100883. [pub] 20230110

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc23004572

Upper tract urothelial carcinoma (UTUC) accounts for 10% of urothelial carcinomas (UCs) and has a substantial hereditary component. However, the majority of our knowledge of germline spectrum comes from bladder cancer (BCa) data in White populations. Here, we sequence 309 Chinese UTUC cases and identify 71 germline pathogenic/likely pathogenic (P/LP) mutations in 62 patients (20.1%). Compared with White cases, we observe disparities and similarities in inherited mutational profiles. Association analysis reveals that germline P/LP mutations in MSH2, BRCA2, BRCA1, and BRIP1 significantly increase UTUC risk in Chinese populations. Furthermore, germline P/LP mutation in homologous recombination genes indicates poor prognosis for non-metastatic UTUC. Finally, we perform paired sequencing and observe significant correlations between germline mutation patterns and tumor subtypes. This study highlights the importance of genetic testing in patients with UTUC and calls for germline data from various ethnicities to better understand this disease.

Citace poskytuje Crossref.org

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$a Wu, Junlong $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Inherited mutations in Chinese patients with upper tract urothelial carcinoma / $c J. Wu, S. Jin, C. Gu, Y. Wei, Y. Zhu, A. Necchi, SF. Shariat, J. Pan, H. Gan, B. Dai, H. Zhang, G. Shi, Y. Zhu, Y. Shen, Y. Zhu, D. Ye
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$a Upper tract urothelial carcinoma (UTUC) accounts for 10% of urothelial carcinomas (UCs) and has a substantial hereditary component. However, the majority of our knowledge of germline spectrum comes from bladder cancer (BCa) data in White populations. Here, we sequence 309 Chinese UTUC cases and identify 71 germline pathogenic/likely pathogenic (P/LP) mutations in 62 patients (20.1%). Compared with White cases, we observe disparities and similarities in inherited mutational profiles. Association analysis reveals that germline P/LP mutations in MSH2, BRCA2, BRCA1, and BRIP1 significantly increase UTUC risk in Chinese populations. Furthermore, germline P/LP mutation in homologous recombination genes indicates poor prognosis for non-metastatic UTUC. Finally, we perform paired sequencing and observe significant correlations between germline mutation patterns and tumor subtypes. This study highlights the importance of genetic testing in patients with UTUC and calls for germline data from various ethnicities to better understand this disease.
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$a Jin, Shengming $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Gu, Chengyuan $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Wei, Yu $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Zhu, Yao $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Necchi, Andrea $u Vita-Salute San Raffaele University and IRCCS San Raffaele Hospital, Department of Medical Oncology, 20132 Milan, Italy
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$a Shariat, Shahrokh F $u Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, 1090 Vienna, Austria; Institute for Urology and Reproductive Health, Sechenov University, 119991 Moscow, Russia; Department of Special Surgery, Division of Urology, Jordan University Hospital, the University of Jordan, Amman 11942, Jordan; Karl Landsteiner Society, Karl Landsteiner Institute of Urology and Andrology, Vienna, Austria; Department of Urology, Weill Cornell Medical College, New York, NY 10065, USA; Department of Urology, University of Texas Southwestern, Dallas, TX 75390, USA; Department of Urology, Second Faculty of Medicine, Charles University, 150 06 Prague, Czech Republic; European Association of Urology Research Foundation, Arnhem, the Netherlands
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$a Pan, Jian $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Gan, Hualei $u Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China
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$a Dai, Bo $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Zhang, Hailiang $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Shi, Guohai $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Zhu, Yu $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Shen, Yijun $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Zhu, Yiping $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
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$a Ye, Dingwei $u Department of Urology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. Electronic address: dingwei_ye1963@163.com
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