Academics, clinicians, and students worldwide can join our research community, the Genomics England Clinical Interpretations Partnership (GECIP, for short).
Examination of the contribution to TGCT platinum resistance of tandem duplication and polyploidy
Project Lead
Clare Turnbull
Project Date
19/12/2018
Lay Summary
Whilst treatable in most men, platinum resistant TGCT has a high mortality and is a significant cause of cancer death in young men. We have at the ICR studied genomic changes in tumours of men with platinum resistant TGCT and wish to examine the 100,000 Genomes Project WGS data to confirm our observations.
Whilst treatable in most men, platinum resistant TGCT has a high mortality and is a significant cause of cancer death in young men. We have at the ICR studied genomic changes in tumours of men with platinum resistant TGCT and wish to examine the 100,000 Genomes Project WGS data to confirm our observations.
A panoramic view of testicular cancer
Project Lead
Clare Verrill
Project Date
01/11/2018
Lay Summary
To date there has not been a comprehensive study of all variants in testicular cancer. By analysing whole genome sequencing data from a large number of cancers we will identify different patterns of variants. This has the potential to enable us to to identify what makes some testicular cancers more aggressive than others.
To date there has not been a comprehensive study of all variants in testicular cancer. By analysing whole genome sequencing data from a large number of cancers we will identify different patterns of variants. This has the potential to enable us to to identify what makes some testicular cancers more aggressive than others.
Minimal mapping of 12p amplification in TGCT
Project Lead
Clare Turnbull
Project Date
25/05/2018
Lay Summary
Testicular germ cell tumours (TGCTs) are highly aneuploid, with large-scale copy number variations frequently observed. Gain of chromosomal material at 12p is observed in almost all tumours and is thought to be a critical event in the development of TGCT. To date, efforts to identify the critical gene(s) targeted by this event through minimal mapping of 12p amplifications have proven inconclusive, in part due to the low resolution of the technologies used. We propose to use TGCT whole genome sequencing data to delineate these events with a much higher degree of precision than previously achieved, with the aim of identifying the associated critical driver(s).
Testicular germ cell tumours (TGCTs) are highly aneuploid, with large-scale copy number variations frequently observed. Gain of chromosomal material at 12p is observed in almost all tumours and is thought to be a critical event in the development of TGCT. To date, efforts to identify the critical gene(s) targeted by this event through minimal mapping of 12p amplifications have proven inconclusive, in part due to the low resolution of the technologies used. We propose to use TGCT whole genome sequencing data to delineate these events with a much higher degree of precision than previously achieved, with the aim of identifying the associated critical driver(s).
Non-coding driver variants in testicular cancer
Project Lead
Clare Turnbull
Project Date
11/04/2018
Lay Summary
The driving forces behind the development of testicular cancer are currently unclear. It is thought that something damages or alters the genetic material of a single cell that allows it to multiply out of control, with further alterations along the way contributing to its progress. Studies looking to identify these so called 'driver' alterations have so far focused on only the small proportion of all genetic material within testicular cancer cells, the ~1.5 % of the 'coding' material that contains the information for making proteins. These studies have identified frequent alterations that directly affect the sequence of two proteins, KIT and RAS, making them more active than normal. The search for genetic alterations outside the coding region, i.e. within the 'non-coding' region, is hindered by the fact that is it much larger and, when a genetic alteration is seen, is more difficult to interpret. We have generated data describing the spatial arrangement of genetic material within in a cell line from a testicular cancer patient that provides clues as to which parts of the non-coding material may be important, for instance by influencing the amount of protein that is made. We propose to use this data in combination with the whole genome sequencing data to search for non-coding driver alterations in testicular cancer.
The driving forces behind the development of testicular cancer are currently unclear. It is thought that something damages or alters the genetic material of a single cell that allows it to multiply out of control, with further alterations along the way contributing to its progress. Studies looking to identify these so called 'driver' alterations have so far focused on only the small proportion of all genetic material within testicular cancer cells, the ~1.5 % of the 'coding' material that contains the information for making proteins. These studies have identified frequent alterations that directly affect the sequence of two proteins, KIT and RAS, making them more active than normal. The search for genetic alterations outside the coding region, i.e. within the 'non-coding' region, is hindered by the fact that is it much larger and, when a genetic alteration is seen, is more difficult to interpret. We have generated data describing the spatial arrangement of genetic material within in a cell line from a testicular cancer patient that provides clues as to which parts of the non-coding material may be important, for instance by influencing the amount of protein that is made. We propose to use this data in combination with the whole genome sequencing data to search for non-coding driver alterations in testicular cancer.
Testicular cancer research plan
Full details of the research proposed by this domain
