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Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast.
(WILEY, 2014-04-01)
Micropapillary carcinoma (MPC) is a rare histological special type of breast cancer, characterized by an aggressive clinical behaviour and a pattern of copy number aberrations (CNAs) distinct from that of grade- and oestrogen ...
Retrospective analysis of molecular scores for the prediction of distant recurrence according to baseline risk factors.
(2016-08)
Clinical variables and several gene signature profiles have been investigated for the prediction of (distant) recurrence in several trials. These molecular markers are significantly correlated with overall and late distant ...
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance.
(2018-01)
Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used ...
Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.
(2016-08)
A case-control study from two randomised breast cancer prevention trials of tamoxifen and raloxifene (P-1 and P-2) identified single-nucleotide polymorphisms (SNPs) in or near genes ZNF423 and CTSO as factors which predict ...
Timing of pubertal stages and breast cancer risk: the Breakthrough Generations Study.
(BIOMED CENTRAL LTD, 2014-02-04)
INTRODUCTION: Breast development and hormonal changes at puberty might affect breast cancer risk, but epidemiological analyses have focussed largely on age at menarche and not at other pubertal stages. METHODS: We investigated ...
Genome-wide characterization reveals complex interplay between TP53 and TP63 in response to genotoxic stress.
(OXFORD UNIV PRESS, 2014-01-01)
In response to genotoxic stress the TP53 tumour suppressor activates target gene expression to induce cell cycle arrest or apoptosis depending on the extent of DNA damage. These canonical activities can be repressed by ...
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
(NATURE PUBLISHING GROUP, 2014-08-07)
Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population ...
Gene-environment dependence creates spurious gene-environment interaction.
(CELL PRESS, 2014-09-04)
Gene-environment interactions have the potential to shed light on biological processes leading to disease and to improve the accuracy of epidemiological risk models. However, relatively few such interactions have yet been ...