Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) - Overview of genetic kidney cancer syndrome

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07/01/23

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References:

1.) Lu E, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Zavoshi S, Li S, Zhang L, Wilde BR, Christofk HR, Boutros PC, Shuch B. Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing. Cancer. 2022 Feb 15;128(4):675-684. doi: 10.1002/cncr.33997. Epub 2021 Nov 1. PMID: 34724198; PMCID: PMC9170268.

2.) Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer. 2020 Aug 15;126(16):3657-3666. doi: 10.1002/cncr.32914. Epub 2020 May 15. PMID: 32413184.

3.) Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomรคki K, Tomlinson I, Richard S, Linehan WM. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. doi: 10.1007/s10689-014-9735-2. PMID: 25012257; PMCID: PMC4574691.

4.) Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW. Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates. Discov Med. 2022 Nov-Dec;34(173):205-220. PMID: 36602871.

5.) Gomella PT, Linehan WM, Ball MW. Precision Surgery and Kidney Cancer: Knowledge of Genetic Alterations Influences Surgical Management. Genes (Basel). 2021 Feb 11;12(2):261. doi: 10.3390/genes12020261. PMID: 33670168; PMCID: PMC7916897.

6.) Ooi A. Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research. Semin Cancer Biol. 2020 Apr;61:158-166. doi: 10.1016/j.semcancer.2019.10.016. Epub 2019 Nov 2. PMID: 31689495; PMCID: PMC7078051.

Video Animation: Dean Elhag, MD
Script: Dean Elhag, MD & Jason Dicola B.S.

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