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J Clin Oncol. 2018 Oct 29:JCO2018792523. doi: 10.1200/JCO.2018.79.2523. [Epub ahead of print]

Genetic Predisposition to Renal Cell Carcinoma: Implications for Counseling, Testing, Screening, and Management.

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1
Brian Shuch, Yale School of Medicine and Yale Cancer Center, New Haven, CT; and Jin Zhang, RenJi Hospital and Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.

Abstract

In many individuals with renal cell carcinoma (RCC), a hereditary cause may have contributed to cancer development. Various risk factors can be suggestive of a genetic contribution, including early disease onset, multifocal or bilateral tumors, family history of RCC, and personal/family history of other benign or malignant tumors. Genetic counseling and understanding of the entire family tree are the first steps in evaluation and will determine if the patient should proceed with testing. Methods of testing have changed to next-generation sequencing, which allows multiple genes to be evaluated together. The results of testing have significant implications for the individual and his or her family members. Screening of the kidney and at-risk organs ensues, with most algorithms focused on early diagnosis and intervention to limit morbidity and mortality of disease manifestations. A comprehensive clinical program that can offer multidisciplinary care is useful for several complex cancer syndromes. Management of localized and advanced hereditary kidney cancers may differ from the sporadic forms of RCC. Knowledge of the genetics can have significant management implications and if necessary genetic evaluation can be expedited to allow treatment decisions.

PMID:
30372385
DOI:
10.1200/JCO.2018.79.2523

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