Department of Medical Genetics
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A study of succinate dehydrogenase deficient tumourigenesis: From functional assessment of variant pathogenicity to the discovery of new disease biomarkers
(2019-07-20)A loss of function of the citric acid cycle enzyme complex succinate dehydrogenase (SDH) is associated with a predisposition to a spectrum of tumourigenesis including phaeochromocytoma, paraganglioma (1) (PPGL), gastrointestinal ... -
The use of whole exome sequencing data to identify candidate genes involved in cancer and benign tumour predisposition
(2019-01-01)The development of whole exome sequencing has transformed the study of disease predisposition. The sequencing of both large disease sets and smaller rare disease families enables the identification of new predisposition ... -
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
(University of Chicago Press, 2018-07)Multiple primary tumors (MPT) affect a substantial proportion of cancer survivors and may result from various causes including inherited predisposition. Currently, germline genetic testing of MPT cases for cancer predisposition ... -
APOBEC3A/B deletion polymorphism and cancer risk.
(Oxford University Press, 2018-02-09)Activity of the apolipoprotein B mRNA editing enzyme, catalytic-polypeptide-like (APOBEC) enzymes has been linked to specific mutational processes in human cancer genomes. A germline APOBEC3A/B deletion polymorphism is ...
