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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
(OXFORD UNIV PRESS, 2022-08-25)
Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic ...
Relationship between genetically determined telomere length and glioma risk.
(OXFORD UNIV PRESS INC, 2022-02-01)
BACKGROUND: Telomere maintenance is increasingly recognized as being fundamental to glioma oncogenesis with longer leukocyte telomere length (LTL) reported to increase risk of glioma. To gain further insight into the ...
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
(OXFORD UNIV PRESS, 2022-08-23)
Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel-Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the ...
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
(NATURE PORTFOLIO, 2022-11-01)
The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in ...