Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma
| Autor: | Guillermo Velasco, Alberto Cascón, Jesús García-Donas, Maria José Santos, Cristina Rodríguez-Antona, Javier Lanillos, Mercedes Robledo, Eduardo Caleiras, Juan María Roldan-Romero, S. Hernando, Nuria Lainez, Georgia Anguera, Cristina Montero-Conde, Luis Robles, Miguel Angel Climent |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
030105 genetics & heredity urologic and male genital diseases Germline Loss of heterozygosity 03 medical and health sciences Germline mutation MUTYH Renal cell carcinoma Prevalence Carcinoma Humans Medicine Carcinoma Renal Cell CHEK2 Germ-Line Mutation Genetics (clinical) business.industry medicine.disease Kidney Neoplasms female genital diseases and pregnancy complications Germ Cells 030104 developmental biology Mutation DNA methylation Cancer research business |
| Zdroj: | GENETICS IN MEDICINE r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/s41436-020-01062-0 |
| Popis: | Purpose Germline pathogenic variants are estimated to affect 3-5% of renal cell carcinoma (RCC) patients. However, higher mutational prevalence in non-clear cell RCC (non-ccRCC) and advanced disease has been suggested. Methods To clarify the prevalence of pathogenic germline variants in metastatic RCC, we sequenced 29 cancer susceptibility genes in 294 unselected metastatic RCC cases plus 21 patients with clinical hereditary features. In 145 tumors, genes frequently mutated in RCC were sequenced and methylation was assessed in selected cases. Results Germline variants in RCC predisposition genes (FH, VHL) were detected in 1.4% of the unselected metastatic patients, with higher frequency in non-ccRCC versus ccRCC (6.4% and 0.4%; P = 0.0025) and in younger patients (P = 0.036). Among the 315 studied patients, 14% of non-type 1 papillary cases (4 of 28), all metastatic |
| Databáze: | OpenAIRE |
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