UK’s Queen Mary University of London (QMUL) is set to develop a new, accurate and inexpensive genetic test to detect and treat people at high risk of anal cancer.

Reportedly, the diagnosis of anal cancer, caused by human papillomavirus (HPV), involves painful biopsies as well as uncomfortable, expensive and complex procedures such as high-resolution anoscopy.

The procurement of cells for a sample is also considered to be difficult as the lesions may be hidden, resulting in varying and subjective results.

A QMUL study funded by Cancer Research UK showed that a genetic test would result in a decrease of painful procedures and the overtreatment of low-risk patients.

During the study, anal biopsy specimens from 148 patients in the country were analysed.

The researchers had examined the samples for genetic markers such as epigenetics, which occur naturally in genes.

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"A QMUL study funded by Cancer Research UK showed that a genetic test would result in a decrease of painful procedures and the overtreatment of low-risk patients."

The analysis showed the presence of specific epigenetic markers on the EPB41L3 tumour suppressor gene and on select regions of viral HPV genome.

The study results indicated that epigenetic testing might be an accurate method to identify the risk of anal cancer, to minimise costs, pain and anxiety experienced during other diagnostic methods.

Expected to take five years for development, the new test will involve swabbing the anal canal to collect a small sample of cells, which will later undergo epigenetic analysis.

The use of swab samples and results from the genetic analysis will be further confirmed in a larger study.


Image: Microscope image of abnormal cells within the anus. Photo: courtesy of the Queen Mary University of London.