Search
Now showing items 11-20 of 365
Deciphering genetic susceptibility to multiple myeloma
(Institute of Cancer Research (University Of London), 2020-09-30)
Multiple myeloma (MM) is a malignancy characterised by the clonal expansion of plasma cells primarily from the bone marrow. The two- to four-fold increased risk observed in relatives of MM patients provides support for ...
Publisher Correction: Cancer genetics, precision prevention and a call to action.
(2019-01)
In the version of this article originally published, there was an error in the second-to-last sentence of the abstract. In this sentence, the final phrase "to identify carriers of first-wave gene mutation carriers" should ...
The NSD1 and EZH2 overgrowth genes, similarities and differences.
(2013-05)
NSD1 and EZH2 are SET domain-containing histone methyltransferases that play key roles in the regulation of transcription through histone modification and chromatin modeling: NSD1 preferentially methylates lysine residue ...
Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
(2018-06)
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ...
Association analysis identifies 65 new breast cancer risk loci.
(2017-11)
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. ...
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
(2017-01)
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) ...
CoverView: a sequence quality evaluation tool for next generation sequencing data.
(2018-01)
Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped ...
Focal amplification of the androgen receptor gene in hormone-naive human prostate cancer
(NATURE PUBLISHING GROUP, 2014-03-18)
Background: Androgen receptor (AR)-gene amplification, found in 20-30% of castration-resistant prostate cancer (CRPCa) is proposed to develop as a consequence of hormone-deprivation therapy and be a prime cause of treatment ...