title: Genetic and Chromosomal Aberrations and Their Clinical Significance in Renal Neoplasms.
abstract: The most common form of malignant renal neoplasms is renal cell carcinoma (RCC), which is classified into several different subtypes based on the histomorphological features. However, overlaps in these characteristics may present difficulties in the accurate diagnosis of these subtypes, which have different clinical outcomes. Genomic and molecular studies have revealed unique genetic aberrations in each subtype. Knowledge of these genetic changes in hereditary and sporadic renal neoplasms has given an insight into the various proteins and signalling pathways involved in tumour formation and progression. In this review, the genetic aberrations characteristic to each renal neoplasm subtype are evaluated along with the associated protein products and affected pathways. The potential applications of these genetic aberrations and proteins as diagnostic tools, prognostic markers, or therapeutic targets are also assessed.
authors.affiliation: Department of Surgery, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia.
authors.forename: Ning Yi
authors.initials: NY
authors.lastname: Yap
authors.affiliation: Department of Surgery, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia ; Centre for Kidney Disease Research, University of Queensland, Translational Research Institute, 37 Kent Street, Brisbane QLD 4102, Australia ; University of Malaya Cancer Research Institute, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia.
authors.forename: Retnagowri
authors.initials: R
authors.lastname: Rajandram
authors.affiliation: Department of Surgery, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia ; Centre for Kidney Disease Research, University of Queensland, Translational Research Institute, 37 Kent Street, Brisbane QLD 4102, Australia.
authors.forename: Keng Lim
authors.initials: KL
authors.lastname: Ng
authors.affiliation: Department of Pathology, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia.
authors.forename: Jayalakshmi
authors.initials: J
authors.lastname: Pailoor
authors.affiliation: Department of Surgery, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Fadzli
authors.affiliation: Centre for Kidney Disease Research, University of Queensland, Translational Research Institute, 37 Kent Street, Brisbane QLD 4102, Australia.
authors.forename: Glenda Carolyn
authors.initials: GC
authors.lastname: Gobe
mesh_terms: D002292:Carcinoma, Renal Cell / Q000453:epidemiology* / Q000235:genetics*; D002869:Chromosome Aberrations; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D011379:Prognosis; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors
chemical_list: D005819:Genetic Markers