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- W3171540968 abstract "Abstract Yolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has not been thoroughly characterized at the genomic level. Here we perform whole-exome and RNA sequencing on 41 clinical tumor samples from 30 YST patients, with distinct responses to cisplatin-based chemotherapy. We show that microsatellite instability status and mutational signatures are informative of chemoresistance. We identify somatic driver candidates, including significantly mutated genes KRAS and KIT and copy-number alteration drivers, including deleted ARID1A and PARK2 , and amplified ZNF217 , CDKN1B , and KRAS . YSTs have very infrequent TP53 mutations, whereas the tumors from patients with abnormal gonadal development contain both KRAS and TP53 mutations. We further reveal a role of OVOL2 overexpression in YST resistance to cisplatin. This study lays a critical foundation for understanding key molecular aberrations in YSTs and developing related therapeutic strategies." @default.
- W3171540968 created "2021-06-22" @default.
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- W3171540968 date "2021-06-11" @default.
- W3171540968 modified "2023-10-12" @default.
- W3171540968 title "Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance" @default.
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- W3171540968 doi "https://doi.org/10.1038/s41467-021-23681-0" @default.
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