̽��ֱ�� of Cambridge - Paul Pharoah

Online tools transform outcomes for cancer patients

ta385 — Thu, 21 Oct 2021 06:00:00 +0000

PREDICT Breast and Prostate, powerful online risk communication tools developed by Cambridge researchers, have helped thousands of patients across the world reach better clinical outcomes, avoid unnecessary treatments and suffer less distress.

Evidence-based web tool aims to better inform and refine need for treatment in early prostate cancer

cjb250 — Tue, 12 Mar 2019 19:00:20 +0000

̽��ֱ��tool, PREDICT Prostate, launches today to coincide with publication in the journal PLOS Medicine of the research that underpins it. It brings together the latest evidence and mathematical models to give a personalised prognosis, which the researchers say will empower patients as they discuss treatment options with their consultant.

According to Cancer Research UK, there were 47,151 new cases of prostate cancer in 2015. Progression of the disease, which usually presents in later life, is very variable: in most cases, the disease progresses slowly and is not fatal. It is often said that more men die with prostate cancer than from it. However, it is still the case that in a significant number of men, the tumour will metastasise and spread to other organs, threatening their health.

When a patient is diagnosed with prostate cancer, they are currently classified as low, intermediate or high risk. Depending on the patient’s risk group, clinicians will recommend either an ‘active monitoring’ approach or treatment. Treatment options include radiotherapy or surgery and can have potentially significant side-effects, including erectile dysfunction and urinary incontinence.

However, evidence suggests that these classifications, which are in the current guidelines provided by the National Institute for Health and Care Excellence (NICE), are only 60-70% accurate. This means that many men may elect for treatment when it is not necessary. In fact, a recent study carried out in the UK showed that for early prostate cancer (low and intermediate risk), treatment is no more beneficial in terms of ten year survival compared to no treatment.

Cambridge researchers have already shown that it is possible to improve the accuracy of the NICE-endorsed model to more than 80% by stratifying patients into five rather than three groups. Their next challenge was to use this information to give a more individual prediction of outcome to patients at no extra cost. ̽��ֱ��result is PREDICT Prostate.

PREDICT Prostate takes routinely available information including PSA test results, the cancer grade and stage, the proportion of biopsies with cancerous cells, and details about the patient including his age and other illnesses. It then gives a 10-15 year survival estimate. Importantly, the tool also estimates how his chance of survival differs depending on whether he opts for monitoring or treatment, providing context of the likelihood of success of treatment and risk of side effects.

“As far as we are aware, this is the first personalised tool to give an overall survival estimate for men following a prostate cancer diagnosis,” says first author Dr David Thurtle, Academic Clinical Fellow in Urology at the ̽��ֱ�� of Cambridge and Addenbrooke’s Hospital, which is part of Cambridge ̽��ֱ�� Hospital NHS Foundation Trust (CUH).

“PREDICT Prostate is designed for men who are considering whether to choose to monitor or to opt for treatment. This is the choice that faces nearly half of all men who are diagnosed with prostate cancer. We hope it will provide a more accurate and objective estimate to help men reach an informed decision in discussion with their consultant.”

̽��ֱ��research was led by Dr Vincent Gnanapragasam, ̽��ֱ�� Lecturer and Honorary Consultant at CUH, and undertaken by Dr Thurtle, both of the Academic Urology Group in Cambridge, and in collaboration with Professor Paul Pharoah of the Department of Cancer Epidemiology.

“We believe this tool could significantly reduce the number of unnecessary – and potentially harmful – treatments that patients receive and save the NHS millions every year,” says Dr Gnanapragasam.

“This isn’t about rationing treatments – it’s about empowering patients and their clinicians to make decisions based on better evidence. In some cases, treatment will be the right option, but in many others, patients will want to weigh up the treatment benefits versus the risks of side effects. It will also show men who do need treatment a realistic estimate of their survival after treatment.”

Data from the National Prostate Cancer Audit has shown that rates of treatment for low risk prostate cancer vary across different hospitals between 2-25%. ‘Radical’ treatment – surgery or radiotherapy, for example – costs on average around £7,000 per patient and treating these men unnecessarily wastes considerable resources as well as causing significant side-effects.

Dr Thurtle and Dr Gnanapragasam have since carried out a randomised study of almost 200 prostate cancer specialists in which they gave some clinicians access to the tool and a series of patient vignettes, while others received the vignettes only. In most cases, the clinician overestimated the risk of the patient dying from the cancer, compared to the estimate given by PREDICT, going on to recommended treatment in many cases and overestimate how successful this treatment would be. When given access to the tool, the clinicians were less likely to recommend treatment in good prognosis cancers.

Dr Gnanapragasam says that the development of PREDICT Prostate has only been possible because of the intactness of records available through Public Health England – the tool was developed using data from over 10,000 UK men recorded in the East of England. This regional registry, he says, is one of the highest quality and most comprehensive data sets available both in the UK and internationally. ̽��ֱ��data was then validated externally in a sample of 2,500 prostate cancer patients in Singapore. ̽��ֱ��web tool was developed in collaboration with the Winton Centre for Risk and Evidence Communication

̽��ֱ��researchers caution that the tool is strongly recommended for use only in consultation with a clinician. It is also not suitable for men with very aggressive disease or who have evidence of disease spread at the time of diagnosis.

̽��ֱ��research was funded by the Evelyn Trust and the Urology Foundation.

Reference
Thurtle, DR et al. Individual prognosis at diagnosis in non-metastatic prostate cancer: Development and external validation of the PREDICT Prostate multivariable model. PLOS Medicine; 12 March 2019; DOI: 10.1371/journal.pmed.1002758

Making prostate biopsies safer

Dr Gnanapragasam recently announced the start of clinical trials of CamProbe, a device to make prostate biopsies safer.

̽��ֱ��current method to retrieve samples from the prostate uses a transrectal ultrasound probe inserted into the anus to allow the biopsy to be taken. Patients who undergo this procedure are at risk of urinary infections or sepsis as the needle has to pass through the bowel wall to reach the prostate. Around 30-40,000 prostate biopsies are done every year using this method in the UK alone.

̽��ֱ��CamProbe, invented and developed in Cambridge, has been designed so the biopsies can be taken more safely through the skin under the scrotum (transperineal) and avoid the bowel.

“ ̽��ֱ��design of the CamProbe is a needle within a needle and allows us to collect tissue from the prostate through a more sterile part of the body,” says Dr Gnanapragasam, who co-leads the Urological Malignancies Programme at the CRUK Cambridge Centre.

“Most importantly it can be done under local anaesthetic in the out-patient department. Previously this kind of approach was only possible if a general anaesthetic was used with very significant additional costs.”

̽��ֱ��trial for the CamProbe is now underway using funding from the National Institute for Health Research (NIHR). It will run for a year at several hospitals around the UK including at the Cambridge Clinical Research Centre. If the trial is successful, the CamProbe could be adopted into mainstream use within two years.

“Our goal is to show that the CamProbe is a simple alternative for taking prostate biopsies which eliminates infection risks to patients and drastically reduces the need for antibiotics,” added Dr Gnanapragasam. “Its simplicity also means it will be a very low-cost device, and, in addition to reducing infections, the need for antibiotics and sepsis related admissions, could potentially save the NHS an estimated £7-11 million pounds every year.”

A new tool to predict an individual’s prognosis following a prostate cancer diagnosis could help prevent unnecessary treatment and related side effects, say researchers at the ̽��ֱ�� of Cambridge.

We believe this tool could significantly reduce the number of unnecessary – and potentially harmful – treatments that patients receive and save the NHS millions every year

Vincent Gnanapragasam

PREDICT Prostate

Researcher profile: Dr David Thurtle

Dr David Thurtle a clinician at Addenbrooke’s, Cambridge ̽��ֱ�� Hospitals, has spent the past two years pursuing a research doctorate in prostate cancer. As he comes to the end of his studies, he is preparing to return to focusing on his clinical work.

“I never see myself straying far from clinical practice,” he says, “but I hope to maintain research interests throughout my career to challenge and improve upon best practice, stretch myself and ensure I’m always up to date for the sake of my patients.”

It was during his final months at medical school at Nottingham ̽��ֱ�� when he carried out a four week placement in the urology department that David realised he wanted a career in this field. With its mix of medicine and surgery, utilisation of technology such as lasers and robots, and treatment of conditions that have profound impacts on patients’ quality and length of life “Urology has it all!” he says.

Since starting an Academic Clinical Fellowship in Cambridge in 2014, he has worked on a range of clinical prostate cancer related topics, collaborating with radiologists, engineers and epidemiologists amongst many others. “I love the daily interaction and satisfaction of clinical medicine and have always sought out research projects that are ‘close to the coal-face’ of clinical work.”

David’s research sets out to inform both patients and doctors about the long term survival outcomes for men diagnosed with localised prostate cancer.

“Prostate cancer has many different guises – some cases are indolent and may never impact upon a patient’s length of life, while others can rapidly metastasise causing significant problems and shortening life. So, management decisions are not as straight-forward as in some other cancers.”

Although treatments are improving, they each carry risks, so his work seeks to provide patients with as much information as possible about their cancer, and help contextualise it against their age and health otherwise.

“Men may have gross misconceptions about the outcomes from prostate cancer, and clinicians may have understandable biases towards certain treatments,” he says. “Our work seeks to ‘switch on the light’ and provide accurate, unbiased estimates of what benefit treatment might offer so that men can make informed decisions based on their own priorities.”

A strong track-record of prostate cancer research and world-renowned academics in cancer epidemiology make Cambridge the ideal place for David and colleagues to carry out their research. “Cambridge has an openness in collaboration that I have not seen elsewhere, with clinicians and academics from disparate disciplines keen to work together - and easy to work with.”

There is also another, perhaps unexpected, reason to enjoy the Cambridge environment. “Cambridge also has a distinct lack of hills which makes for far more enjoyable running and cycling – so much so that I’ve taken up triathlons!”

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Major genetic study identifies 12 new genetic variants for ovarian cancer

cjb250 — Mon, 27 Mar 2017 15:00:19 +0000

Published today in the journal Nature Genetics, the findings are the result of work by the OncoArray Consortium, a huge endeavour led by scientists in the UK, the USA and Australia. This particular study involved 418 researchers from almost 300 different departments worldwide.

According to Cancer Research UK, there were 7,378 new cases of ovarian cancer in the UK in 2014. Around nine out of ten of these cases was epithelial ovarian cancer. ̽��ֱ��peak rate of cases is among women aged 75-79 years old.

“We know that a woman’s genetic make-up accounts for about one third of her risk of developing ovarian cancer. This is the inherited component of disease risk,” explains Professor Paul Pharoah from the ̽��ֱ�� of Cambridge, UK, one of the joint leads. “We’re less certain of environmental factors that increase our risk, but we do know that several factors reduce the risk of ovarian cancer, including taking the oral contraceptive pill, having your tubes tied and having children.”

Inherited faults in genes such as BRCA1 and BRCA2 account for about 40 per cent of the inherited component. These faults are rare in the population (carried by about one in 300 people) and are associated with high lifetime risks of ovarian cancer – about 50 per cent for BRCA1 and 16 per cent for BRCA2 on average – as well as a high risk of breast cancer. Variants that are common in the population (carried by more than one in 100 people) are believed to account for most of the rest of the inherited component of risk.

Before the OncoArray Consortium, researchers had identified 27 common variants across the genome associated with ovarian cancer risk. However, some of these are associated only with rare subtypes of ovarian cancer. ̽��ֱ��magnitude of the associated risk however is modest: together, the variants account for only about 4 per cent of the inherited component of disease.

̽��ֱ��OncoArray Consortium studied the genomes of over 25,000 people with epithelial ovarian cancer and compared them to almost 41,000 healthy controls. They then analysed results from a further 31,000 BRCA1 and BRCA2 mutation carriers, which included almost 4,000 epithelial ovarian cancer patients. This enabled them to identify a further 12 variants associated with risk and confirm the association of 18 of the previously published variants; some of the other variants failed to replicate.

In total, there are now known to be 30 risk variants, accounting for 6.5 per cent of the inherited component of risk.

“Ovarian cancer is clearly a very complex disease – even the 30 risk variants that we now know increase risk of developing the disease account for just a small fraction of the inherited component,” says Dr Catherine Phelan from the Moffitt Cancer Center, Tampa, USA. “We believe that there will likely be many more genetic variants involved, each with extremely small effects. Most of these are likely to be common, but some will be rare.”

̽��ֱ��researchers point out that while the common view is of our genes influencing disease risk, in fact most of the variants discovered to date do not fall in our genes, but rather in ‘non-coding’ regions of the human genome, so named because, unlike our genes, they do not provide the code to make proteins. Instead, these regions are often involved in regulating the activity of our genes.

Because the variants are common, some women will carry multiple risk variants. However, even in combination these variants do not have a large effect on risk, say the researchers. Women carrying the greatest number of these risk variants will still have a lifetime risk of ovarian cancer of just 2.8 per cent. To put this into context, family cancer clinics commonly offer surgery to remove the ovaries – and hence prevent the possibility of disease – to women with a lifetime risk of 10 per cent or more.

However, these variants also affect the risk of ovarian cancer in women who carry a fault in the BRCA1 or BRCA2 genes and this might be sufficient to affect the decision of a carrier about when or if to have preventive surgery.

“In some ways, the hard work starts now,” says Dr Simon Gayther from Cedars-Sinai Medical Center, Los Angeles, USA. “We really have little idea of the functional effect these variants have at the molecular or cellular level and so there are few clues as to how they might affect risk. If we can understand how they work, we will be in a better position to treat – and possibly prevent – ovarian cancer.”

̽��ֱ��research was carried out by the Ovarian Cancer Association Consortium and the Consortium of Investigators of Modifiers of BRCA1/2, two consortia that are part of the larger OncoArray Consortium. ̽��ֱ��consortia used a customised Illumina genotyping array, which allowed them to analyse around 533,000 variants and has been used to genotype over 500,000 samples, including the samples in this study of ovarian cancer

Reference
Phelan, CM et al. Identification of twelve novel susceptibility loci for different histotypes of epithelial 1 ovarian cancer. Nature Genetics; 27 Mar 2017; DOI: 10.1038/ng.3826

A genetic trawl through the DNA of almost 100,000 people, including 17,000 patients with the most common type of ovarian cancer, has identified 12 new genetic variants that increase risk of developing the disease and confirmed the association of 18 of the previously published variants.

Gregory Podgorniak

Visualization of DNA sequence invented in 2015

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Cancer: what's on the cards?

bjb42 — Mon, 04 Jan 2010 14:28:37 +0000

How likely we are to develop cancer is determined by our genes and our lifestyle. Likening this to a hand of cards, the risk of cancer depends on whether we inherit good cards or bad cards and also how we play them (our lifestyle). Some genes carry a very high risk, which is why some individuals have a particularly strong family history of cancer. Most of the time, however, cancer risk is determined by a combination of genes conferring a more moderate risk; nevertheless, the overall risk can be high (a bad hand) if there are enough of these genes.

At Strangeways Research Laboratory (SRL) in Cambridge, the research groups of Professor Doug Easton, Dr Paul Pharoah and Dr Alison Dunning, supported with over £9 million of funding from Cancer Research UK, are working out the role of normal human genetic variation in cancer risk – essentially, which hands of cards are worse than others.

̽��ֱ��SEARCH begins

Several high-risk gene defects, such as mutations in BRCA1 and BRCA2 in breast cancer, have been identified through family studies. Work in the 1990s at SRL by Professor Sir Bruce Ponder, who is now Director of the Cancer Research UK Cambridge Research Institute (CRI), and Professor Easton helped track down these two genes. However, among the general population, these defects are usually rare, and most cancers are the result of inheriting several more-common gene mutations. For breast cancer, these more-common gene defects account for as much as 80% of inherited risk, according to findings at SRL.

‘ ̽��ֱ��trouble is, the individual effects of common genetic variants are small and to get reliable evidence about specific variants you need to sample large numbers of people,’ explained Professor Easton, Director of the Cancer Research UK Genetic Epidemiology Group. Key to finding these mutations has been the assembly at SRL of one of the largest population studies of cancer ever conducted, along with the unique expertise that the team has gathered together in cancer epidemiology, biostatistics, large-scale genetic analysis and public health medicine.

This work was started in 1996 by Professor Ponder and Professor Nicholas Day, who recruited Dr Paul Pharoah as a Clinical Fellow to enrol patients with breast cancer. ̽��ֱ��enrolment was later extended to include patients with ovarian, colorectal or uterine cancer, as well as participants with no history of cancer. ̽��ֱ��project, now called SEARCH, was further extended five years ago to include bladder, brain, kidney, oesophageal and pancreatic cancers, as well as melanoma and non-Hodgkin’s lymphoma. ‘Our early investment in well-curated and very large study sets, with blood samples, pathology review and clinical data, has been absolutely crucial as it has provided the statistical power for reliable conclusions about common genetic variants,’ explained Professor Ponder. Today, SEARCH numbers nearly 27,000 cases and normal controls from the East Anglia region, providing a remarkable and growing resource: by 2013, the hope is that this will have expanded to 35,000.

Going global

‘SEARCH has shown that the size of the dataset is really important for assessing the impact of common genetic variants accurately,’ explained Dr Pharoah, who leads a research group at SRL from the Department of Oncology. ‘ ̽��ֱ��logical next step was to combine data from SEARCH with other studies that had been happening worldwide.’

Cambridge now coordinates five international consortia of study groups: two consortia studying breast cancer, one each studying ovarian and prostate cancers, and a newly formed consortium to examine genetic differences underlying adverse side-effects from cancer radiotherapy (see below). From SRL, the consortia pull in not just SEARCH but also other studies such as ProtecT, a prostate cancer study led by Cambridge’s Professor of Surgical Oncology, David Neal, together with Professor Freddie Hamdy in Oxford and Professor Jenny Donovan in Bristol; and the familial breast cancer study EMBRACE, led by Professor Easton. ̽��ֱ��scale of the endeavour is unprecedented in population studies, and the European Union has recently awarded €12 million to coordinate these large-scale genetic studies in breast, ovarian and prostate cancers.

‘Apart from increasing the reliability of the data,’ said Professor Easton, ‘the international consortia afford the opportunity to study populations from different parts of the world where different genetic and lifestyle factors are operating.’

Gene hunting

Improvements in technology that would have been hard to imagine when SEARCH began are now being used to analyse the data, demonstrating the enormous foresight in setting up such a resource a decade ago.

‘We know that there are about 10 million variants in the genome, but choosing the right ones to test for association with cancer has in the past owed a great deal to chance, with the result that very few positive associations were identified,’ said Dr Dunning, who leads the high-throughput laboratory team within the SRL. ‘Now, though, thanks both to the ability to carry out genome-wide scans and the samples collected through the international consortia, we can pinpoint the variants that are definitively linked to the risk of cancer.’

A full genome scan for breast cancer, the first of its kind, was completed in 2007 by the researchers and published in Nature. Full genome scans of prostate and ovarian cancers have since followed in Nature Genetics. In the latest scan, published in October 2009, the genomes of 38,000 men with and without prostate cancer were analysed for over 43,000 single differences in DNA (called single nucleotide polymorphisms or SNPs), revealing multiple new cancer gene regions.

To date, 13 predisposing gene regions have been identified for breast cancer, five for ovarian cancer and 27 for prostate cancer, findings that have significant implications for targeted screening and prevention in the future. Since most of these newly discovered regions contain genes that had not previously been considered in cancer, they will also provide new insights into the biology of the disease. Going forward, Professor Ponder’s group at the CRI is developing phenotypic assays as a read-out of cancer risk, studying how risk genes exert their function and searching for molecular markers for future studies of early diagnosis and prevention. Professor Fiona Watt at the Wellcome Trust Centre for Stem Cell Research is also studying the biological effects caused by these gene defects to understand what goes wrong in cancer.

Professor Neal, in the Department of Oncology and CRI, has been investigating whether a protein made by one of the newly discovered prostate loci can be used as a screening and diagnostic marker in prostate cancer since it can be measured in serum and urine. Early results suggest not only loss of the protein in prostate cancer, but also a decrease in men who possess the high- risk form of the gene but who have not yet developed prostate cancer.

Translational tools

But what does this all mean to understanding our own risk? For breast and ovarian cancer, Dr Antonis Antoniou and Professor Easton have developed a computer model named BOADICEA that can predict an individual’s risk of these cancers. ̽��ֱ��tool is already being used by genetic counsellors to identify high-risk individuals, referring them for counselling and regular screening if appropriate, and providing advice about ways to lower their risk. As new data come to light from the genome scans, BOADICEA will continually be improved, providing increasingly accurate information to individuals wishing to know the hand of genetic cards that they’ve been dealt.

BCAC: Breast Cancer Association Consortium

BOADICEA: Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm

CIMBA: Consortium of Investigators of Modifiers of BRCA1/2

EMBRACE: Epidemiological Study of Familial Breast Cancer

OCAC: Ovarian Cancer Association Consortium

PRACTICAL: Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome

ProtecT: Prostate Testing for Cancer and Treatment

SEARCH: Studies of Epidemiology and Risk Factors in Cancer Heredity

For more information, please contact Professor Doug Easton (doug.easton@srl.cam.ac.uk), Dr Paul Pharoah (paul.pharoah@srl.cam.ac.uk) and Dr Alison Dunning (alisond@srl.cam.ac.uk) at the Strangeways Research Laboratory or visit the SEARCH website.

Scientists at Strangeways Research Laboratory are leading the search for the ‘genetic cards’ that determine an individual’s risk of cancer.

Ben Alford on Flickr

Cards

Worldwide consortia led by Strangeways Research Laboratory

BCAC: 100,000 breast cancer cases and controls; 55 study groups

CIMBA: 25,000 breast cancer cases and controls; 42 study groups

OCAC: 30,000 ovarian cancer cases and controls; 34 study groups

PRACTICAL: 25,000 prostate cancer cases and controls; 27 study groups

Radiogenomics Consortium: newly formed; 23 study groups

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Genetic link to increased risk of ovarian cancer found

bjb42 — Mon, 03 Aug 2009 00:00:00 +0000

An international research group led by scientists based at the Cancer Research UK Genetic Epidemiology Unit at the ̽��ֱ�� of Cambridge and UCL ( ̽��ֱ�� College London) searched through the genomes of 1,810 women with ovarian cancer and 2,535 women without the disease from across the UK. They analysed 2.5 million variations in DNA base pairs - the letters which spell out the genetic code - to identify common spelling 'errors' linked to ovarian cancer risk.

̽��ֱ��scientists identified the genetic 'letters'- called single nucleotide polymorphisms (SNPs) - which when spelt slightly differently increase ovarian cancer risk in some women. This is the first time scientists have found a SNP linked uniquely to risk of ovarian cancer and is the result of eight years of investigations. With the help of the international Ovarian Cancer Association Consortium (OCAC), they then looked at more than 7,000 additional women with ovarian cancer and 10,000 women without disease from around the world to confirm this finding.

̽��ֱ��region of risk DNA is located on chromosome nine (there are 23 pairs of each chromosome in humans, one of each pair inherited from each parent). ̽��ֱ��scientists estimate that there is a 40 per cent increase in lifetime risk for women carrying the DNA variation on both copies of chromosome nine compared with someone who doesn't carry it on either chromosome. ̽��ֱ��risk for women carrying the variation on both chromosomes is 14 in 1000 - compared with ten in 1000.

Approximately 15 per cent of women in the UK population carry two copies of the variant DNA.

̽��ֱ��lifetime risk for a woman carrying the DNA variant on one copy of the chromosome is increased by 20 per cent from ten in 1000 to 12 in 1000. Approximately 40 per cent of women in the UK carry one copy.

Lead author, Professor Dr Paul Pharoah, a Cancer Research UK senior research fellow at the ̽��ֱ�� of Cambridge, said: "We already know that people with mistakes in the BRCA1 and BRAC2 genes have a greater risk of ovarian cancer - but on their own they don't account for all of the inherited risk of the disease.

"It is likely that the remaining risk is due to a combination of several unidentified genes - which individually carry a low to moderate risk. Now we have ticked one off, the hunt is on to find the rest."

Senior author Dr Simon Gayther, whose work is supported by Cancer Research UK and ̽��ֱ��Eve Appeal charity which fundraises for the gynaecological cancer research team based at UCL, said: " ̽��ֱ��human DNA blueprint contains more than 10 million genetic variants. These are part and parcel of our characteristics and make-up - but a handful will also increase the chances of some women getting ovarian cancer and we have found the first one of these.

"There is now a genuine hope that as we find more, we can start to identify the women at greatest risk and this could help doctors to diagnose the disease earlier when treatment has a better chance of being successful."

Ovarian cancer is the fifth most common cancer in women in the UK with around 6,800 new cases diagnosed each year in the UK - 130 women every week. It is the fourth most common cause of cancer death in women in the UK with around 4,300 deaths from the disease in the UK each year.

BRCA1 and BRCA2 are high risk genes which cause breast cancer and are already known to significantly increase the risk of ovarian cancer but faults in these genes are rare and probably cause less than five per cent of all cases of ovarian cancer.

Scientists have located a region of DNA which – when altered – can increase the risk of ovarian cancer, according to research published in Nature Genetics over the weekend.

It is likely that the remaining risk is due to a combination of several unidentified genes - which individually carry a low to moderate risk. Now we have ticked one off, the hunt is on to find the rest.

Paul Pharoah

Credit:Spanish Flea via Flickr

DNA - Red

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