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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
The analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data and provides further evidence for inherited genetic susceptibility to lung cancer and its biological basis.
Genome-wide association studies of cancer: current insights and future perspectives
Genome-wide association studies have shown that common genetic variation contributes substantially to the heritable risk of many common cancers, and deciphering the functional and biological basis of associations is challenging and is in part a barrier to fully unlocking the potential of GWAS.
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
This study clarifies the genetic architecture of CRC and probably discounts the existence of further major high-penetrance susceptibility genes, which individually account for >1% of the familial risk.
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
Publishing evidence is found to support the association between variants in NTHL1 and RPS20 with CRC, but not of other recently reported CRC susceptibility variants.
Genetic predisposition to mosaic Y chromosome loss in blood
A genome-wide association study of mosaic loss of chromosome Y in UK Biobank participants identifies 156 genetic determinants of LOY, showing that LOY is associated with cancer and non-haematological health outcomes and supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues.
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families,…
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors
A meta-analysis of existing GWAS and two new GWAS substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.
Genome-wide association study identifies multiple susceptibility loci for glioma
The authors' findings provide further insights into the genetic basis of the different glioma subtypes, and identify new risk loci for glioblastoma and non-GBM at 12q23.2 and 15q24.2, respectively.
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
- D. Chubb, P. Broderick, R. Houlston
- Medicine, BiologyJournal of clinical oncology : official journal…
- 5 January 2015
Findings suggest CRC screening of POLE and POLD1 mutation carriers should be comparable to that afforded to those at risk of HNPCC, and have utility in the design of genetic analyses to identify such novel CRC risk genes.
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk
There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we…