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Researchers funded by PLANETS Cancer Charity uncovered new genetic patterns that may improve early identification of people at risk of pancreatic cancer.
The discovery could lead to the development of personalised risk prediction tools and help doctors identify people who may benefit from earlier screening and potentially life-saving interventions.
The genetic variants are associated with pancreatic ductal adenocarcinoma (PDAC), the most common form of pancreatic cancer. PDAC and has the lowest survival rate of any cancer and, with no effective early diagnosis tools, it is often detected at an advanced stage after it has spread.
Known risk factors for the disease include smoking, diabetes, obesity and inherited genetic predisposition.
The preliminary findings, presented by Dr Georgios Ioannis Verras, clinical research fellow at the University of Southampton, at the British Association of Surgical Oncology (BASO) conference this month, also highlight the prioritisation of new genes that may increase susceptibility to the disease.
The presentation received the BASO-ACS Proffered Papers Oral Presentation Prize.
Using data from the UK Biobank, a nationwide database containing genetic and health information from half a million participants, the researchers analysed variations in genes linked to PDAC.
The variants they identified are linked to metabolic, inflammatory and protein secretion pathways in pancreatic tissue and, when combined with age, gender and lifestyle factors, could help clinicians identify higher-risk individuals.
The results build on the team’s 2023 study, published in the journal Gastroenterology and reported by PLANETS, which compared the genetic data of 1,042 people with PDAC to 10,420 healthy participants and laid the foundation for predictive risk models which this work builds on.
However, the researchers stress these are still early findings and further work is needed to validate the results in more diverse populations – as well as laboratory work to investigate the biological mechanisms behind these genetic signals.
The study team is based at the University of Southampton and led by Professor William Tapper, a professor of genetics, and Dr Zaed Hamady, a consultant hepatobiliary, pancreatic, and laparoscopic surgeon at University Hospital Southampton and associate professor.
Dr Hamady said: “This research builds on our previous work and brings us closer to understanding who is most at risk of pancreatic cancer.
“By expanding our knowledge of genetic risk, we hope to develop more accurate models to predict.
“This could then form the foundation for targeted screening programmes, especially for those at highest risk, and ultimately save lives.”
Mr Georgios Verras added: “Our early analyses suggest new genetic patterns that may be relevant to pancreatic cancer risk in the UK population.
“If these findings are replicated in further studies, they could eventually feed into more refined risk prediction tools that combine genetics with age, sex and lifestyle information to help identify people who might benefit from closer monitoring in the future.
“While much more work is needed before this could have any impact on individual patients, it is an encouraging direction for future research.”
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