Publications by authors named "Valeriya I Ni"
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.
Valeriya I Ni Alexandr O Ivantsov Mariya A Kotkova Sofia V Baskina Elena V Ponomareva Kseniya V Shelekhova Evgeny N Imyanitov
Fam Cancer
January 2021
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.
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- A breast cancer patient with estrogen receptor-positive cancer relapsed after two and a half years of treatment, leading to the addition of everolimus to her ongoing exemestane therapy due to the tumor's potential sensitivity to hormone treatment.
- After a brief period on oral chemotherapy failed due to her rapidly worsening health, a BRCA test showed a significant deletion in the BRCA2 gene, prompting the use of olaparib as a last-resort treatment.
- Remarkably, the patient experienced a dramatic recovery known as the "Lazarus response," with her metastatic cancer showing complete metabolic response on a PET-CT scan after just one month of olaparib therapy, highlighting the need for further studies of PARP inhibitors in patients