Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
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中国上尿路尿路上皮癌患者的遗传突变
DOI：
10.1016/j.xcrm.2022.100883
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发表时间：
2023-01-17
影响因子：
14.3
通讯作者：
Ye, Dingwei
中科院分区：
文献类型：
--
作者：
Wu, Junlong;Jin, Shengming;Gu, Chengyuan;Wei, Yu;Zhu, Yao;Necchi, Andrea;Shariat, Shahrokh F.;Pan, Jian;Gan, Hualei;Dai, Bo;Zhang, Hailiang;Shi, Guohai;Zhu, Yu;Shen, Yijun;Zhu, Yiping;Ye, Dingwei
上尿路上皮癌（UTUC）占尿路上皮癌（UC）的10%，并具有相当大的遗传成分。然而，我们对生殖系谱系的大部分知识来自白色人群中的膀胱癌（BCa）数据。在这里，我们对309例中国UTUC病例进行测序，并在62例患者（20.1%）中鉴定出71个生殖系致病性/可能致病性（P/LP）突变。与白色病例相比，我们观察到遗传突变谱的差异和相似性。关联分析显示，在中国人群中，MSH 2、BRCA 2、BRCA 1和BRIP 1的生殖系P/LP突变显著增加UTUC风险。此外，同源重组基因中的生殖系P/LP突变表明非转移性UTUC预后不良。最后，我们进行配对测序，并观察生殖系突变模式和肿瘤亚型之间的显着相关性。这项研究强调了基因检测在UTUC患者中的重要性，并呼吁从不同种族获得生殖系数据，以更好地了解这种疾病。在中国UTUC患者中阐明了遗传突变景观BRCA 1/2、MSH 2或BRIP 1中的生殖系突变增加了中国UTUC的风险生殖系基因型与UTUC的患者特征和预后相关某些生殖系模式与特定肿瘤亚型相关基于309例中国上尿路上皮癌（UTUC）患者的生殖系突变分析，Wu et al.阐明遗传突变景观，比较突变谱与其他种族，并将某些生殖系基因型与UTUC易感性，患者特征，肿瘤和特定肿瘤亚型相关联。
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. Inherited mutation landscape is elucidated in Chinese patients with UTUC Germline mutation in BRCA1/2, MSH2, or BRIP1 increases UTUC risk in Chinese Germline genotype correlates with patient features and prognosis of UTUC Certain germline patterns correlate with specific tumor subtypes Based on germline mutation analysis of 309 Chinese patients with upper tract urothelial carcinoma (UTUC), Wu et al. elucidate inherited mutation landscape, compare mutational spectrum with other ethnicities, and also correlate certain germline genotypes with UTUC predisposition, patient characteristics, prognoses, and specific tumor subtypes.
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影响因子：
5.8
作者：
Gu, Zuguang;Eils, Roland;Schlesner, Matthias
通讯作者：
Schlesner, Matthias
影响因子：
12.3
作者：
Blokzijl F;Janssen R;van Boxtel R;Cuppen E
通讯作者：
Cuppen E
中国散发性早发性疾病患者肾癌易感基因的种系突变及其临床相关性。
影响因子：
6.2
作者：
Wu J;Wang H;Ricketts CJ;Yang Y;Merino MJ;Zhang H;Shi G;Gan H;Linehan WM;Zhu Y;Ye D
通讯作者：
Ye D
影响因子：
3.5
作者：
Gayhart, Matthew George;Johnson, Nicole;Smith, Steven Christopher
通讯作者：
Smith, Steven Christopher
影响因子：
46.9
作者：
Kang, Jeffrey C.;Sun, Wei;Ward, E. Sally
通讯作者：
Ward, E. Sally