Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?

doi:10.1136/jmg-2024-109984

Case Reports

. 2024 Sep 24;61(10):937-938.

doi: 10.1136/jmg-2024-109984.

Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?

Philip Harraka¹, Fiona Bruinsma^{2

3}, Tu Nguyen-Dumont^{4

5}, Susan Jordan⁶, Graham G Giles², Ingrid M Winship^{7

8}, Kathy Tucker⁹, Melissa C Southey^{10

2

5}

Affiliations

¹ Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia.
² Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
³ Burnet Institute, Melbourne, Victoria, Australia.
⁴ Clinical Genomics, School of Translational Medicine, Monash University, Melbourne, Victoria, Australia.
⁵ Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.
⁶ School of Public Health, The University of Queensland, Brisbane, Queensland, Australia.
⁷ Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
⁸ Department of Medicine, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.
⁹ Hereditary Cancer Service, Prince of Wales Hospital NCCC, Randwick, New South Wales, Australia.
¹⁰ Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia melissa.southey@monash.edu.

PMID: 39089886
DOI: 10.1136/jmg-2024-109984

Case Reports

Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?

Philip Harraka et al. J Med Genet. 2024.

. 2024 Sep 24;61(10):937-938.

doi: 10.1136/jmg-2024-109984.

Authors

Philip Harraka¹, Fiona Bruinsma^{2

3}, Tu Nguyen-Dumont^{4

5}, Susan Jordan⁶, Graham G Giles², Ingrid M Winship^{7

8}, Kathy Tucker⁹, Melissa C Southey^{10

2

5}

Affiliations

¹ Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia.
² Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
³ Burnet Institute, Melbourne, Victoria, Australia.
⁴ Clinical Genomics, School of Translational Medicine, Monash University, Melbourne, Victoria, Australia.
⁵ Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.
⁶ School of Public Health, The University of Queensland, Brisbane, Queensland, Australia.
⁷ Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
⁸ Department of Medicine, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.
⁹ Hereditary Cancer Service, Prince of Wales Hospital NCCC, Randwick, New South Wales, Australia.
¹⁰ Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia melissa.southey@monash.edu.

PMID: 39089886
DOI: 10.1136/jmg-2024-109984

No abstract available

Keywords: Genetic Research; Genetics, Medical; Molecular Epidemiology.

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Conflict of interest statement

Competing interests: None declared.

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Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?

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Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?

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