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Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer

2024-12-02

Abstract excerpt

Lynch syndrome (LS) is a hereditary condition characterized by defective DNA mismatch repair (MMR) and high incidence of several cancers, including urothelial cancers (UC) of the upper urinary tract and bladder. We set out to study the somatic landscape of LS-associated urothelial cancer (LS-UC) by analyzing 41 surgical tumor samples and 3 urine DNA samples from 34 LS-UC patients. We show that telomerase reverse t...

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Literature Corpus work
6883053f-ec6a-5849-8c9b-38bac89fefac
DOI
10.1101/2024.11.27.624238
Open publication

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Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancerDOI 10.1101/2024.11.27.624238
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