Article
Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue.
Familial cancer - 1 Jan 2021
Ni Valeriya I, Ivantsov Alexandr O, Kotkova Mariya A, Baskina Sofia V, Ponomareva Elena V, Orlova Rashida V, Topuzov Eldar E, Kryukov Kirill K, Shelekhova Kseniya V, Aleksakhina Svetlana N, Sokolenko Anna P, Imyanitov Evgeny N
Abstract excerpt
A recent study suggested a role of CHEK2 loss-of-function germ-line pathogenic variants in the predisposition to testicular cancer (TC) (AlDubayan et al. JAMA Oncol 5:514-522, 2019). We attempted to validate this finding relying on the high population frequency of recurrent CHEK2 pathogenic variants in Slavic populations. CHEK2 pathogenic alleles (c.1100delC (p.Thr367Metfs); del5395 [del ex9-10]; IVS2 + 1G > A...
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