Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity
- Resource Type
- Authors
- Marc Tischkowitz; James Whitworth; Eamonn R. Maher; Anne Y. Warren; Emma R. Woodward; Bruce Castle; Francis H. Sansbury; Philip Smith; Hannah West
- Source
- Subject
- Adult
Male
Cancer Research
renal cell carcinoma
Adolescent
Biology
urologic and male genital diseases
Germline
03 medical and health sciences
Genetic Heterogeneity
0302 clinical medicine
Locus heterogeneity
Renal cell carcinoma
Genetics
medicine
Humans
Clinical significance
Genetic Testing
Family history
Child
CHEK2
Carcinoma, Renal Cell
Germ-Line Mutation
Genetic testing
Aged
Microphthalmia-Associated Transcription Factor
medicine.diagnostic_test
BRCA1 Protein
BRIP1
Middle Aged
medicine.disease
inherited
Fanconi Anemia Complementation Group Proteins
Kidney Neoplasms
female genital diseases and pregnancy complications
Checkpoint Kinase 2
predisposition
030220 oncology & carcinogenesis
Female
RNA Helicases
- Language
- English
- ISSN
- 1045-2257
Inherited renal cell carcinoma (RCC) is associated with multiple familial cancer syndromes but most individuals with features of non-syndromic inherited RCC do not harbor variants in the most commonly tested renal cancer predisposition genes (CPGs). We investigated whether undiagnosed cases might harbor mutations in CPGs that are not routinely tested for by testing 118 individuals with features suggestive of inherited RCC (family history of RCC, two or more primary RCC aged