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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
(CELL PRESS, 2022-05-05)
We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ...
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 ...
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 ...