307547 Understanding the Genetics Changes seen in Urological Disease

Cancer usually develops slowly over many years, but we still do not fully understand how ageing and common non-cancerous conditions contribute to its development. We are exploring these links across a range of urological diseases by studying tissue samples with modern genetic sequencing methods. By identifying the genetic changes that occur as people age and develop benign disease, we hope to improve our understanding of how cancers arise. Our findings could help support earlier detection, prevention and better care for people affected by urological disease.

Cancer develops through the accumulation of genetic mutations over many years, creating opportunities to improve prevention and early intervention if the processes involved can be better understood. Advances in tissue sampling and genetic sequencing now enable researchers to examine the genetic changes associated with ageing and benign disease.

We are studying the relationship between ageing, non-cancerous urological conditions and cancer across a range of urological diseases by analysing tissue samples using modern sequencing approaches. By improving understanding of how genetic changes accumulate over time, we aim to clarify the links between ageing, benign disease and cancer development.

Rationale

The considerable focus on early detection of disease at a population level makes sense as early detection offers the
possibility of cure that advanced disease often evades. Any such early detection or screening strategy relies upon
knowledge of the natural history of the disease being screened [WHO screening]. Given the interplay between aging,
cancer and benign disease, we seek to understand how somatic mutations alter tissue function within the context of
the multi-cellular environment of urological conditions.

Aims

The study aims to understand the genetic and molecular features of urological tissues that are associated with cancer, aging, and benign disease

Primary Outcome

To gain a deeper understanding of the genetic and molecular features of urological tissues that are associated with cancer, aging, and benign disease.

Key Secondary outcome(s)

None

Study Type

Observational

Participant and Sample Information

Populations involved:

People with urological diseases, including benign conditions and urological cancers.

Countries of recruitment:

UK

Approximate participant or sample numbers (if applicable):

500

Key inclusion criteria:

• Adults aged over 16 years
• Diagnosed with a benign or cancer-related urological condition
• Having enough “surplus” tissue left over after diagnostic/clinical needs are met

Key exclusion criteria:

• Do not meet the inclusion criteria above
• Under 16 years of age
• Lack the capacity to consent

Recruitment status:

Recruiting by invitation only.

Governance and Ethical Approval

Governance and oversight:

Study Sponsor: Wellcome Sanger Institute

All work conducted at the Wellcome Sanger Institute is reviewed and overseen by institutional Research Governance processes, ensuring compliance with ethical, legal, and regulatory requirements.

Ethical approval:

This study has been reviewed by the North East – Tyne & Wear South NHS Research Ethics Committee. The study received REC approval on 16 Deember 2021.

IRAS 307547

REC reference: 21/NE/0224

Data and Sample Use

Data sharing:

Anonymised DNA sequence data are stored in the European Genome-Phenome Archive (EGA) and made available to bonafide researchers via managed access, subject to data access agreements. Anonymised samples and cultured cells may also be shared with other legitimate research organisations under appropriate legal agreements.

IPD sharing statement

Deidentified individual participant-level data (IPD) will not be shared as part of this study.

Completion date

Ongoing

Further Information

For enquiries about the scientific aims of this study or potential collaboration, please contact the Martincorena Group.

For enquiries relating to research governance, ethics, or regulatory oversight, please contact the Research Governance team at researchgovernance@sanger.ac.uk.