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Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.
Bruinsma, Fiona; Harraka, Philip; Jordan, Susan; Park, Daniel J; Pope, Bernard; Steen, Jason; Milne, Roger L; Giles, Graham G; Winship, Ingrid; Tucker, Katherine M; Southey, Melissa C; Nguyen-Dumont, Tu.
Afiliación
  • Bruinsma F; Cancer Epidemiology Division, Cancer Council Victoria, East Melbourne, VIC 3002, Australia.
  • Harraka P; Burnet Institute, Melbourne, VIC 3004, Australia.
  • Jordan S; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC 3010, Australia.
  • Park DJ; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.
  • Pope B; School of Public Health, The University of Queensland, Herston, QLD 4006, Australia.
  • Steen J; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC 3010, Australia.
  • Milne RL; Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, VIC 3010, Australia.
  • Giles GG; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.
  • Winship I; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC 3010, Australia.
  • Tucker KM; Victoria Comprehensive Cancer Centre, The University of Melbourne Centre for Cancer Research, Melbourne, VIC 3010, Australia.
  • Southey MC; Department of Surgery, Royal Melbourne Hospital, Melbourne Medical School, The University of Melbourne, Melbourne, VIC 3010, Australia.
  • Nguyen-Dumont T; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia.
Cancers (Basel) ; 16(17)2024 Aug 27.
Article en En | MEDLINE | ID: mdl-39272843
ABSTRACT
Renal cell carcinoma (RCC) has been associated with germline pathogenic or likely pathogenic (PLP) variants in recognised cancer susceptibility genes. Studies of RCC using gene panel sequencing have been highly variable in terms of study design, genes included, and reported prevalence of PLP variant carriers (4-26%). Studies that restricted their analysis to established RCC predisposition genes identified variants in 1-6% of cases. This work assessed the prevalence of clinically actionable PLP variants in renal cancer predisposition genes in an Australian population-based sample of RCC cases. Germline DNA from 1029 individuals diagnosed with RCC who were recruited through the Victoria and Queensland cancer registries were screened using a custom amplicon-based panel of 21 genes. Mean age at cancer diagnosis was 60 ± 10 years, and two-thirds (690, 67%) of the participants were men. Eighteen participants (1.7%) were found to carry a PLP variant. Genes with PLP variants included BAP1, FH, FLCN, MITF, MSH6, SDHB, TSC1, and VHL. Most carriers of PLP variants did not report a family history of the disease. Further exploration of the clinical utility of gene panel susceptibility testing for all RCCs is warranted.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cancers (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cancers (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Suiza