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Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.

Eric LuKathryn E HatchellSarah M NielsenEdward D EsplinKaren OuyangKeith NykampShirin ZavoshiShantao LiZarina YelskayaBlake R WildeHeather R ChristofkPaul C BoutrosBrian Shuch
Published in: Cancer (2021)
The prevalence of HLRCC discovered incidentally on germline testing is similar to recent population carrier estimates, and this suggests that this is a relatively common cancer syndrome. Compared with those with negative genetic testing, those with VUSs had an elevated risk of RCC, whereas those with AR FMRD variants did not.
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