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Polygenic risk scores to stratify cancer screening should predict mortality not incidence.
(NATURE PORTFOLIO, 2022-05-30)
Population-based cancer screening programs such as mammography or colonscopy generally directed at all healthy individuals in a given age stratum. It has recently been proposed that cancer screening could be restricted to ...
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes
(2021-04-15)
To obtain a comprehensive picture of composite genetic drivers events and clonal dynamics in subtypes of paediatric acute lymphoblastic leukaemia (ALL) we analysed tumour-normal whole genome sequencing and expression data ...
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 ...
Protein-altering germline mutations implicate novel genes related to lung cancer development.
(NATURE PORTFOLIO, 2020-05-11)
Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect ...
Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.
(WILEY, 2020-02-01)
Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have ...
Second primary cancers in non-Hodgkin lymphoma: Family history and survival.
(WILEY, 2020-02)
Second primary cancers (SPCs) account for an increasing proportion of all cancer diagnoses and family history of cancer may be a risk factor for SPCs. Using the Swedish Family-Cancer Database on non-Hodgkin lymphoma (NHL), ...
Genomic landscape of platinum resistant and sensitive testicular cancers.
(NATURE PUBLISHING GROUP, 2020-05-04)
While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ...
Impact of mitochondrial DNA mutations in multiple myeloma.
(NATURE PUBLISHING GROUP, 2020-05-01)
Pathway Analysis of Renal Cell Carcinoma Genome-Wide Association Studies Identifies Novel Associations.
(AMER ASSOC CANCER RESEARCH, 2020-10-01)
BACKGROUND: Much of the heritable risk of renal cell carcinoma (RCC) associated with common genetic variation is unexplained. New analytic approaches have been developed to increase the discovery of risk variants in ...