Dataset Information

A study comparing cancer patients randomly assigned to be offered either genetic testing ‘at home’ or in hospital

ABSTRACT: Background and study aims Patients who are diagnosed with womb, bowel, or ovarian cancer that fulfill NHS genetic testing criteria are recommended to have genetic testing to see if their cancer was related to an inherited gene alteration. Identifying carriers of alterations allows novel personalised cancer treatments, prevention of second cancers, and testing of family members for cancer screening and prevention. Genetic testing requires pre-test counselling to ensure patients are informed about the impact of having a genetic test and managing the result. This ‘genetic counselling’ has traditionally been provided by genetics services. However, it is now routinely being offered by cancer-treating teams in an approach called “mainstreaming”. Currently, the demand for genetic counselling and testing is swiftly increasing and capacity constraints requires the development of new scalable cost and resource-efficient implementation models. This study will assess if pre-test counselling and genetic testing can be done using a direct-to-patient model. Participants will receive genetic testing information on a smartphone app or website that they can access at home along with counselling support through a study telephone helpline. Those who agree to testing can consent via the app and perform testing at home with a saliva genetic testing kit delivered and returned by post. In the study this direct-to-patient approach is directly compared to the standard mainstreaming approach. Who can participate? Patients aged 18 years and over diagnosed with bowel, womb, or ovarian cancer who are eligible for NHS genetic testing What does the study involve? This study compares and evaluates the uptake of genetic testing using both approaches. The researchers also assess patient satisfaction, quality-of-life, and psychological outcomes following testing, using standardized or customized questionnaires over 1 year of follow-up. Clinician opinions will be elicited. Some patients will also be interviewed to assess attitudes, experiences, and impact on emotional wellbeing. An economic analysis will be undertaken to assess the cost-effectiveness of this approach for the NHS.

DISEASE(S): Endometrial,Patients Diagnosed With Colorectal,Or Ovarian Cancer Eligible For Genetic Testing For Cancer Susceptibility Gene Variants

PROVIDER: 72075 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR

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Project description:In the past years several protocols for the proteomic profiling of plasma membrane proteins have been described. Nevertheless, comparative analyses have mainly focused on different variations of one approach [1-3]. To pave the way to high-performance differential plasma membrane proteomics, we compared sulfo-NHS-SS-biotinylation, aminooxy-biotinylation and surface coating with silica beads to isolate plasma membrane proteins for subsequent analysis by one-dimensional gel-free liquid chromatography mass spectrometry. Absolute and relative numbers of plasma membrane proteins and reproducibility parameters on a qualitative and quantitative level were assessed. Sulfo-NHS-SS-biotinylation outperformed aminooxy-biotinylation and surface coating using silica beads for most of the monitored criteria. We further simplified this procedure by introducing a competitive biotin elution strategy, for which the average plasma membrane annotated protein fraction amounted to 54 % (347 proteins). Moreover, purified non-plasma membrane annotated proteins and plasma membrane annotated proteins displayed similarly high reproducibility suggesting specific co-purification. In fact, the non-plasma membrane annotated data was extremely enriched for direct interactors of purified plasma membrane proteins. Computational analysis using additional databases and prediction tools revealed that in total over 90 % of the purified proteins were associated with the plasma membrane. The modified sulfo-NHS-SS-biotinylation protocol was validated by tracking changes in the plasma membrane proteome composition induced by genetic alteration and drug treatment. GPI-anchored proteins were depleted in plasma membrane purifications from cells deficient in the GPI transamidase component PIGS; and treatment of cells with tunicamycin significantly reduced the abundance of N-glycoproteins in surface purifications. Altogether, this study introduces an improved, filter-free sulfo-NHS-SS-biotinylation protocol and demonstrates it to be a specific, effective and reproducible method to isolate proteins associated with the plasma membrane, thus enabling future large-scale comparative cell surface mappings.

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A study comparing cancer patients randomly assigned to be offered either genetic testing ‘at home’ or in hospital

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