作者
Maria I Carlo, Vignesh Ravichandran, Preethi Srinavasan, Chaitanya Bandlamudi, Yelena Kemel, Ozge Ceyhan-Birsoy, Semanti Mukherjee, Diana Mandelker, Joshua Chaim, Andrea Knezevic, Satshil Rana, Zarina Fnu, Kelsey Breen, Angela G Arnold, Aliya Khurram, Kaitlyn Tkachuk, Catharine K Cipolla, Ashley Regazzi, A Ari Hakimi, Hikmat Al-Ahmadie, Guido Dalbagni, Karen A Cadoo, Michael F Walsh, Min-Yuen Teo, Samuel A Funt, Jonathan A Coleman, Bernard H Bochner, Gopa Iyer, David B Solit, Zsofia K Stadler, Liying Zhang, Jonathan E Rosenberg, Barry S Taylor, Mark E Robson, Michael F Berger, Joseph Vijai, Dean F Bajorin, Kenneth Offit
发表日期
2020/2/10
期刊
Journal of Clinical Oncology
卷号
38
期号
5
页码范围
406-414
出版商
American Society of Clinical Oncology
简介
PURPOSE
Urothelial cancers (UCs) have a substantial hereditary component, but, other than their association with Lynch syndrome, the contribution of genetic risk factors to UC pathogenesis has not been systematically defined. We sought to determine the prevalence of pathogenic/likely pathogenic (P/LP) germline variants in patients with UC and identify associated clinical factors.
PATIENTS AND METHODS
Overall, 586 patients with UC underwent prospective, matched tumor-normal DNA sequencing. Seventy-seven genes associated with cancer predisposition were analyzed; allele frequencies were compared with publicly available database.
RESULTS
P/LP germline variants were identified in 80 (14%) of 586 individuals with UC. The most common P/LP variants in high- or moderate-penetrance genes were BRCA2 (n = 9; 1.5%), MSH2 (n = 8; 1.4%), BRCA1 (n = 8; 1.4%), CHEK2 (n = 6; 1.0%), ERCC3 (n = 4; 0.7 …
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MI Carlo, V Ravichandran, P Srinavasan… - Journal of Clinical Oncology, 2020