̽��ֱ�� of Cambridge - Antonis Antoniou

AI can be good for our health and wellbeing

cjb250 — Mon, 07 Apr 2025 08:00:08 +0000

Cambridge researchers are looking at ways that AI can transform everything from drug discovery to Alzheimer's diagnoses to GP consultations.

£10 million programme to use AI and state-of-the-art analytics to fight cancer

cjb250 — Wed, 22 Jan 2025 00:05:20 +0000

̽��ֱ��Cancer Data-Driven Detection programme will be led by Antonis Antoniou, Professor of Cancer Risk Prediction at the ̽��ֱ�� of Cambridge. It is funded by Cancer Research UK, the National Institute for Health and Care Research, and the Engineering and Physical Sciences Research Council.

̽��ֱ��programme aims to access and link data from different sources - including health records, genomics, family history, demographics, and behavioural data - to develop statistical models that help scientists accurately predict who is most likely to get cancer. Alongside this, the programme will develop powerful new tools that use AI to analyse the data and calculate an individual’s risk of cancer throughout their lifetime.

Professor Antoniou said: “Finding people at the highest risk of developing cancer, including those with vague symptoms, is a major challenge. ̽��ֱ��UK’s strengths in population-scale data resources, combined with advanced analytical tools like AI, offer tremendous opportunities to link disparate datasets and uncover clues that could lead to earlier detection, diagnosis, and prevention of more cancers.”

Over the next five years, the funding will build the infrastructure required to access and link these datasets, train new data scientists, create the algorithms behind the risk models and evaluate the algorithms and AI tools to ensure that they are giving accurate and clinically useful information about cancer risk. ̽��ֱ��scientific programme will be guided by partnerships with cancer patients, the public, clinical experts and industry, while addressing ethical and legal considerations to ensure that the models and tools work well in practice.

Professor Antoniou added: “Ultimately, [the Cancer Data Driven Detection programme] could inform public health policy and empower individuals and their healthcare providers to make shared decisions. By understanding individual cancer risks, people can take proactive steps to stop cancer before it gets worse or even begins in the first place.”

̽��ֱ��models generated from this research could be used to help people at higher risk of cancer in different ways. For example, the NHS could offer more frequent cancer screening sessions or screening at a younger age to those at higher risk, whilst those at lower risk could be spared unnecessary tests. People identified as higher risk could also be sent for cancer testing faster when they go to their GP with possible cancer signs or symptoms. Individuals at higher risk could also access different ways to prevent cancer.

Earlier diagnosis of cancer saves lives, yet according to analysis of NHS figures by Cancer Research UK, only 54% of cancers in England are diagnosed at stages one and two, where treatment is more likely to be successful. NHS England has set a target to diagnose 75% of cancers at stages one and two by 2028, and this will only be achieved with research and embracing new technologies to catch cancer earlier.

Last week, the Prime Minister announced backing for the power of big data and AI, which has the potential to help even more patients, including those with cancer.

Science Minister Lord Vallance said: “There are huge opportunities in AI to improve UK healthcare, from scans detecting illnesses earlier to bringing NHS waiting lists down by planning appointments more efficiently, and these will continue to develop.

“This investment in harnessing the potential of data to spot those at risk of cancer represents the sort of innovation the Government’s new AI Opportunities Action Plan sets out to realise, so this technology improves lives, while transforming public services and boosting growth.”

Minister for Public Health and Prevention, Andrew Gwynne said: “Using the latest technology could revolutionise how the NHS diagnoses and treats patients. As part of this government’s Plan for Change, we will transform our health service from analogue to digital, and innovative projects like this show exactly how we will achieve it.”

̽��ֱ��Cancer Data Driven Detection programme is jointly supported by Cancer Research UK, the National Institute for Health & Care Research, the Engineering & Physical Sciences Research Council, Health Data Research UK, and Administrative Data Research UK.

Head of Prevention and Early Detection Research at Cancer Research UK, Dr David Crosby, said: “ ̽��ֱ��single most important thing we can do to beat cancer is to find it earlier, when treatment is more likely to be successful. With half a million cancer cases per year expected in the UK by 2040, we need a major shift towards more accurate diagnosis and detection of early cancer.”

Find out how Cambridge is Changing the Story of Cancer

Adapted from a press release from Cancer Research UK

Cambridge researchers are to lead a £10 million project that could result in doctors being able to predict your individual chances of getting cancer and offer personalised detection and prevention.

̽��ֱ��UK’s strengths in population-scale data resources, combined with advanced analytical tools like AI, offer tremendous opportunities to link disparate datasets and uncover clues that could lead to earlier detection, diagnosis, and prevention of more cancers

Antonis Antoniou

BrianPenny (Pixabay)

Image representing AI and Big Data

̽��ֱ��text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright © ̽��ֱ�� of Cambridge and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways – on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.

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Back to BRCA: the discovery of a breast cancer risk gene

cjb250 — Mon, 07 Oct 2024 08:00:50 +0000

In 1994, a landmark paper identified a gene – BRCA1 – that significantly increases the risk of breast and ovarian cancers when faulty. Thirty years on, we look at the major impact it has had on how we understand and treat cancer – and why there is still much to learn.

Study highlights increased risk of second cancers among breast cancer survivors

cjb250 — Wed, 24 Apr 2024 23:30:38 +0000

For the first time, the research has shown that this risk is higher in people living in areas of greater socioeconomic deprivation.

Breast cancer is the most commonly diagnosed cancer in the UK. Around 56,000 people in the UK are diagnosed each year, the vast majority (over 99%) of whom are women. Improvements in earlier diagnosis and in treatments mean that five year survival rates have been increasing over time, reaching 87% by 2017 in England.

People who survive breast cancer are at risk of second primary cancer, but until now the exact risk has been unclear. Previously published research suggested that women and men who survive breast cancer are at a 24% and 27% greater risk of a non-breast second primary cancer than the wider population respectively. There have been also suggestions that second primary cancer risks differ by the age at breast cancer diagnosis.

To provide more accurate estimates, a team led by researchers at the ̽��ֱ�� of Cambridge analysed data from over 580,000 female and over 3,500 male breast cancer survivors diagnosed between 1995 and 2019 using the National Cancer Registration Dataset. ̽��ֱ��results of their analysis are published today in Lancet Regional Health – Europe.

First author Isaac Allen from the Department of Public Health and Primary Care at the ̽��ֱ�� of Cambridge said: “It’s important for us to understand to what extent having one type of cancer puts you at risk of a second cancer at a different site. ̽��ֱ��female and male breast cancer survivors whose data we studied were at increased risk of a number of second cancers. Knowing this can help inform conversations with their care teams to look out for signs of potential new cancers.”

̽��ֱ��researchers found significantly increased risks of cancer in the contralateral (that is, unaffected) breast and for endometrium and prostate cancer in females and males, respectively. Females who survived breast cancer were at double the risk of contralateral breast cancer compared to the general population and at 87% greater risk of endometrial cancer, 58% greater risk of myeloid leukaemia and 25% greater risk of ovarian cancer.

Age of diagnosis was important, too – females diagnosed with breast cancer under the age of 50 were 86% more likely to develop a second primary cancer compared to the general population of the same age, whereas women diagnosed after age 50 were at a 17% increased risk. One potential explanation is that a larger number of younger breast cancer survivors may have inherited genetic alterations that increase risk for multiple cancers. For example, women with inherited changes to the BRCA1 and BRCA2 genes are at increased risk of contralateral breast cancer, ovarian and pancreatic cancer.

Females from the most socioeconomically deprived backgrounds were at 35% greater risk of a second primary cancer compared to females from the least deprived backgrounds. These differences were primarily driven by non-breast cancer risks, particularly for lung, kidney, head and neck, bladder, oesophageal and stomach cancers. This may be because smoking, obesity, and alcohol consumption – established risk factors for these cancers – are more common among more deprived groups.

Allen, a PhD student at Clare Hall, added: “This is further evidence of the health inequalities that people from more deprived backgrounds experience. We need to fully understand why they are at greater risk of second cancers so that we can intervene and reduce this risk.”

Male breast cancer survivors were 55 times more likely than the general male population to develop contralateral breast cancer – though the researchers stress that an individual’s risk was still very low. For example, for every 100 men diagnosed with breast cancer at age 50 or over, about three developed contralateral breast cancer during a 25 year period. Male breast cancer survivors were also 58% more likely than the general male population to develop prostate cancer.

Professor Antonis Antoniou from the Department of Public Health and Primary Care at the ̽��ֱ�� of Cambridge, the study’s senior author, said: “This is the largest study to date to look at the risk in breast cancer survivors of developing a second cancer. We were able to carry this out and calculate more accurate estimates because of the outstanding data sets available to researchers through the NHS.”

̽��ֱ��research was funded by Cancer Research UK with support from the National Institute for Health and Care Research Cambridge Biomedical Research Centre.

Cancer Research UK’s senior cancer intelligence manager, Katrina Brown, said: “This study shows us that the risk of second primary cancers is higher in people who have had breast cancer, and this can differ depending on someone’s socioeconomic background. But more research is needed to understand what is driving this difference and how to tackle these health inequalities.”

People who are concerned about their cancer risk should contact their GP for advice. If you or someone close to you have been affected by cancer and you’ve got questions, you can call Cancer Research UK nurses on freephone 0808 800 4040, Monday to Friday.

Reference
Allen, I, et al. Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study. Lancet Regional Health – Europe; 24 April 2024: DOI: 10.1016/j.lanepe.2024.100903

Survivors of breast cancer are at significantly higher risk of developing second cancers, including endometrial and ovarian cancer for women and prostate cancer for men, according to new research studying data from almost 600,000 patients in England.

It’s important for us to understand to what extent having one type of cancer puts you at risk of a second cancer at a different site. Knowing this can help inform conversations with their care teams to look out for signs of potential new cancers

Isaac Allen

National Cancer Institute

Doctor standing near woman patient doing breast cancer scan

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Prostate cancer risk prediction algorithm could help target testing at men at greatest risk

cjb250 — Fri, 09 Dec 2022 21:00:39 +0000

CanRisk-Prostate, developed by researchers at the ̽��ֱ�� of Cambridge and ̽��ֱ��Institute of Cancer Research, London, will be incorporated into the group’s CanRisk web tool, which has now recorded almost 1.2 million risk predictions. ̽��ֱ��free tool is already used by healthcare professionals worldwide to help predict the risk of developing breast and ovarian cancers.

Prostate cancer is the most common type of cancer in men. According to Cancer Research UK, over 52,000 men are diagnosed with the disease each year and there are more than 12,000 deaths. Over three-quarters (78%) of men diagnosed with prostate cancer survive for over 10 years, but this proportion has barely changed over the past decade in the UK.

Testing for prostate cancer involves a blood test that looks for a protein known as a prostate-specific antigen (PSA) that is made only by the prostate gland; however, it is not always accurate. According to the NHS website, around three in four men with a raised PSA level will not have cancer. Further tests, such as tissue biopsies or MRI scans, are therefore required to confirm a diagnosis.

Professor Antonis Antoniou from the Department of Public Health and Primary Care at the ̽��ֱ�� of Cambridge said: “Prostate cancer is the most common cancer in men in the UK, but population-wide screening based on PSA isn’t an option: these tests are often falsely positive, which means that many men would then be biopsied unnecessarily. Also, many prostate tumours identified by PSA tests are slow-growing and would not have been life-threatening. ̽��ֱ��treatment of these tumours may do more harm than good.

“What we need is a way of identifying those men who are at greatest risk, allowing us to target screening and diagnostic tests where they are most needed, while also reducing the harms for those men who have low risk of the disease. This is what CanRisk-Prostate aims to do. For the first time, it combines information on the genetic makeup and prostate cancer family history, the main risk factors for the disease, to provide personalised cancer risks.”

Prostate cancer is one of the most genetically determined of common cancers. Inherited faulty versions of the BRCA2, HOXB13 and possibly BRCA1 genes are associated with moderate-to-high risk of prostate cancer, though such faults are rare in the population. In addition, there are several hundred more common genetic variants that each confer a lower risk, but in aggregate they act like ‘volume control’ that moderate or increase the prostate cancer risk.

Writing in the Journal of Clinical Oncology, the researchers – supported by Cancer Research UK – describe the development of the first comprehensive prostate cancer model using genetic and cancer family history data from almost 17,000 families affected by prostate cancer. It uses data on rare genetic faults in moderate-to-high-risk genes and a risk score based on 268 common low-risk variants, together with detailed cancer family history, to predict the future risks.

One in six men (16%) will develop prostate cancer by the time they are 85 years old. Using the model, the team found that the predicted risk was higher for men who had a father diagnosed with prostate cancer – 27% if the father was diagnosed at an older age (80 years) but as high as 42% if the father was diagnosed at a young age (50 years).

̽��ֱ��risks were considerably higher for men with genetic faults. For example, 54% of men who carry an alteration in the BRCA2 gene would develop prostate cancer – however, among men with BRCA2 gene faults, the risks were substantially lower if they also had a small number of the low-risk variants, but much higher if they also had a large number of the low-risk variants.

In practice, say the researchers, clinicians will be able to use any combination of cancer family history, rare and common genetic variants to provide a personalised risk.

To validate their model, the team ran the risk model on an independent cohort of over 170,000 men recruited to UK Biobank, a biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants. All of these men were free from prostate cancer when they were recruited to the study, but more than 7,600 developed prostate cancer within the subsequent ten years.

When validating their model, the researchers found that 86% of the UK Biobank participants who developed cancer were in the half of men with the highest predicted risks, which suggests that it may be possible to target screening and diagnostic tests to the subgroup of the population at highest risk, among whom the majority of the cancers will occur.

Dr Tommy Nyberg from the MRC Biostatistics Unit at Cambridge said: “We’ve created the most comprehensive tool to date for predicting a man’s risk of developing prostate cancer. We hope this will help clinicians and genetic counsellors assess their clients’ risk and provide the appropriate follow-up.

“Over the next 12 months, we aim to build this tool into the widely used CanRisk tool, which will facilitate the risk-based clinical management of men seen in family cancer clinics and enable risk-adapted early detection approaches to the population at large.”

Professor Ros Eeles from ̽��ֱ��Institute of Cancer Research, London and co-author on the study said: “This is an important step forward as it will enable clinicians to have conversations with men about their individual risk of prostate cancer based on the most accurate computer model to date. This will help them in making decisions about screening.”

So far, the data used to develop CanRisk-Prostate has been from men of European ancestry. ̽��ֱ��team hope to be able to include data from men of other ethnicities as further research is undertaken.

̽��ֱ�� ̽��ֱ�� of Cambridge recently launched the Early Cancer Institute with the aim of detecting cancer early enough to cure it. It is the first physical institute in the UK dedicated to early cancer. A new Cambridge Cancer Research Hospital is also planned for the near future, bringing together clinical and research expertise in a new, world-class hospital, designed in partnership with patients.

There is also an Early Detection and Diagnosis centre at ̽��ֱ��Institute of Cancer Research and ̽��ֱ��Royal Marsden NHS Foundation Trust where a prostate risk clinic has been established to translate these findings into targeted screening programmes.

̽��ֱ��research was supported by the Cancer Research UK-funded CanRisk programme. Additional support for CanRisk-Prostate was provided by Prostate Cancer UK, ̽��ֱ��Institute of Cancer Research, Everyman Campaign, National Cancer Research Network UK, National Cancer Research Institute, NIHR Cambridge Biomedical Research Centre and the NIHR Biomedical Research Centre at ̽��ֱ��Institute of Cancer Research and ̽��ֱ��Royal Marsden NHS Foundation Trust.

Reference
Nyberg, T et al. CanRisk-Prostate: a comprehensive, externally validated risk model for the prediction of future prostate cancer. Journal of Clinical Oncology; 9 Dec 2022; DOI: 10.1200/JCO.22.01453

Cambridge scientists have created a comprehensive tool for predicting an individual’s risk of developing prostate cancer, which they say could help ensure that those men at greatest risk will receive the appropriate testing while reducing unnecessary – and potentially invasive – testing for those at very low risk.

What we need is a way of identifying those men who are at greatest risk, allowing us to target screening and diagnostic tests where they are most needed, while also reducing the harms for those men who have low risk of the disease. This is what CanRisk-Prostate aims to do

Antonis Antoniou

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Middle aged couple

̽��ֱ��text in this work is licensed under a Creative Commons Attribution 4.0 International License. Images, including our videos, are Copyright © ̽��ֱ�� of Cambridge and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways – as here, on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.

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Faulty BRCA genes linked to prostate and pancreatic cancers

cjb250 — Tue, 25 Jan 2022 21:00:40 +0000

A study published today in the Journal of Clinical Oncology has provided the strongest evidence to date of these links and helped researchers estimate more accurately the associated risk.

Since these genes were discovered in the mid 90s, numerous studies have explored possible links between BRCA1 and BRCA2 mutations and other cancers. However, these studies had small sample sizes, resulting in imprecise estimates of cancer risk. Being able to estimate the risks accurately is important for informing cancer prevention and screening strategies and providing genetic counselling to those at greatest risk. BRCA mutations are uncommon, affecting around 1 in 300-400 people in the population.

To further investigate these risk estimates, a team led by researchers at the ̽��ֱ�� of Cambridge, funded by Cancer Research UK, analysed data from almost 3,200 families with one or more members with the BRCA1 mutation and almost 2,200 families with members carrying the BRCA2 mutation. ̽��ֱ��families had all been recruited to the Consortium of Investigators of Modiﬁers of BRCA1/2. ̽��ֱ��researchers examined the associations with 22 primary cancers.

From the data, the researchers estimated that men who carry a BRCA2 mutation have a 27% risk of developing prostate cancer by the time they are 80 years old, more than double the rate compared to non-carriers. BRCA1 mutations were not associated with an increase in prostate cancer risk.

Carrying a defective copy of either BRCA1 or BRCA2 more than doubled an individual’s risk of pancreatic cancer to 2.5-3% by age 80.

̽��ֱ��mutations were also found to increase the risk of stomach cancer, though the researchers caution that because of the rarity of this form of cancer, the number of patients in their datasets was small.

Mutations in both genes significantly increased the risk of breast cancer in men, though the disease is still very rare, accounting for less than 1% of all male cancer cases in the UK. While a BRCA1 mutation increased a man’s risk of developing breast cancer more than four-fold to 0.4% by age 80, a BRCA2 mutation increased this risk by 44 times to 3.8% by age 80. It is estimated that 38 out of 1,000 male carriers of the BRCA2 mutation will develop breast cancer by age 80.

̽��ֱ��researchers were unable to find compelling evidence that mutations were linked to increased risk of some other cancers which were previously thought to be linked to faulty BRCA genes, such as melanoma.

Cancer Research UK says that people who are worried about their risk of cancer should talk to their GP. GPs can refer patients to a genetics clinic if they think someone has a strong family history and might be at an increased risk.

Professor Antonis Antoniou from the Department of Public Health and Primary Care at the ̽��ֱ�� of Cambridge, who led the research, said: “These large datasets of patients have allowed us to estimate with much greater accuracy the extent to which faulty BRCA1 and BRCA2 genes increase the risk of several cancers. We’ve known for some time that they’re linked to breast and ovarian cancer, but there’s been uncertainty about other cancers.”

Professor Marc Tischkowitz from the Department of Medical Genetics at the ̽��ֱ�� of Cambridge added: “ ̽��ֱ��link between BRCA2 and prostate cancer and pancreatic cancer is now much clearer, thanks to the data we’ve analysed. We have also identified a potential link with stomach cancer, but this is based on small numbers and needs further study. Our data suggests that there is no strong link between BRCA2 and melanoma, which may provide greater clarity to BRCA2 gene carriers.

“Overall, the results will add to our knowledge on optimising cancer screening and early detection strategies for people who are known to carry these faulty genes.”

Michelle Mitchell, Chief Executive of Cancer Research UK, said: “Our scientists helped to discover BRCA over 25 years ago and established that faults in these genes increase breast cancer risk. This study has built on that vital knowledge, giving us some important new insights into BRCA genes and the likely risks of developing prostate and pancreatic cancer.

“Cancers caused by inherited faulty BRCA genes are relatively rare, and other factors like age, smoking, diet and other preventable factors contribute to a person’s risk.

“Improving our understanding of how faults in our genes are associated with certain cancers puts us in a much better position to pinpoint those at a higher risk of developing cancer.”

Reference
Li, S et al. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of Clinical Oncology; 25 Jan 2022; DOI: 10.1200/JCO.21.02112

Faulty versions of the BRCA1 and BRCA2 genes are well known to increase the risk of breast cancer in men and women, and in ovarian cancer. Now BRCA1 and BRCA2 have been linked to several other cancers, including those that affect men.

These large datasets of patients have allowed us to estimate with much greater accuracy the extent to which faulty BRCA1 and BRCA2 genes increase the risk of several cancers

Antonis Antoniou

KATERYNA KON/SCIENCE PHOTO LIBRARY

Prostate cancer cells

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Genetic tool can identify Asian women at higher risk of breast cancer

Anonymous — Fri, 31 Jul 2020 09:00:00 +0000

̽��ֱ��tool, called a Polygenic Risk Score (PRS), separates people into different risk groups based on their genetic sequence to predict their future risk of developing breast cancer. ̽��ֱ��results can empower women to decide which screening and prevention is right for them, and help reduce inefficiency, unnecessary cost, and even possible harm caused by over-diagnosis.

This is the first large study of the PRS in an Asian population. Previously, Asian studies were nearly six times smaller than studies in European women, and due to lack of data in Asians it was unclear if PRSs are effective in predicting breast cancer risk in non-European women.

“We have been developing a model for predicting breast cancer risk in European women that includes the PRS and this is now approved for clinical use. This study is the first big step towards enabling the use of such tools in the clinical management of women of Asian ancestry,” said Professor Antonis Antoniou at the ̽��ֱ�� of Cambridge’s Department of Public Health and Primary Care, and co-lead of the study.

Through the significant increase in data from Malaysia and Singapore, PRSs have been shown to help identify more accurately who is at high risk of breast cancer. ̽��ֱ��results suggest that only 30% of Malaysian and Singaporean women have a predicted risk similar to that of European women, and that using the PRS accurately identifies these high-risk women. ̽��ֱ��study is published today in the journal Nature Communications.

“Combining genetic factors into one comprehensive model is critical to move from the research to a tool for women to use. We evaluated the PRS in 45,212 Asian women, from Singapore, Malaysia, Japan, Korea, China, Hong Kong, Thailand, Taiwan, USA, and Canada. Studies such as these require large sample sizes, and so, bringing together patients from ̽��ֱ�� Malaya, Subang Jaya Medical Centre, National ̽��ֱ�� Hospital, Singapore, and six other major treatment centres in Singapore really gave us the sample size to be able to evaluate the tool in Asians,” said Associate Professor Ho Weang Kee at the ̽��ֱ�� of Nottingham in Malaysia, and first author of the study.

Women are generally recommended to start screening at age 50. However, in most Asian countries, many women who could be at risk of breast cancer do not go for screening. This leads to late detection and a lower survival rate.

“Our study is a critical piece of the puzzle that helps us better understand breast cancer risks in different women around the world. There are differences in the genetic make-up of Asian women compared to women of European descent, which means their propensity to develop breast cancer may be different. Understanding this can help us to work out why some women are at higher risk of the disease, which in turn should help us to improve screening, prevention and ultimately treatment of the disease,” said Professor Douglas Easton, Director of the Centre for Cancer Genetic Epidemiology at the ̽��ֱ�� of Cambridge, and co-lead of the study.

There is an urgent need to develop an appropriate screening strategy for Asian women. Malaysia anticipates a 49% increase in breast cancer cases from 2012 to 2025. Malaysia has a much lower five-year survival rate compared to other Asian countries at only 63%, whereas South Korea is at 92% and Singapore is at 80%.

“Risk-based screening may be particularly important in low- and middle-resource countries that do not have population-based screening, such as Malaysia. Without the funding for population-based screening, identifying individuals with higher risk may be an important strategy for early detection,” said Professor Nur Aishah Mohd Taib, Universiti Malaya Cancer Research Institute, Malaysia.

̽��ֱ��study involved a collaboration between Cancer Research Malaysia, the ̽��ֱ�� of Nottingham, the ̽��ֱ�� of Cambridge, the Universiti Malaya, Subang Jaya Medical Centre, National ̽��ֱ�� Health System, Genome Institute of Singapore, six hospitals in Singapore, and a large population-based prospective cohort from Singapore.

̽��ֱ��work was funded by the Medical Research Council and Academy of Sciences Malaysia via the Newton-Ungku Omar Fund, the Wellcome Trust Collaborative Science Award, Yayasan Sime Darby, Yayasan PETRONAS, and Estee Lauder Group of Companies.

Adapted from a press release by Cancer Research Malaysia.

A genetic study in Asian women, led by Malaysian scientists in collaboration with Singapore and the ̽��ֱ�� of Cambridge, has revealed that a genetic tool developed to help assess breast cancer risk in European women also works in Asian women. This could help address the rising incidence of breast cancer in Asia.

This study is the first big step towards enabling the use of such tools in the clinical management of women of Asian ancestry

Antonis Antoniou

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Researchers develop comprehensive new way to predict breast cancer risk

cjb250 — Tue, 15 Jan 2019 00:01:49 +0000

They have a developed a way of calculating the risk of developing the disease by combining information on family history and genetics with other factors such as weight, age at menopause, alcohol consumption and use of hormone replacement therapy.

Although individually some of these things have a small impact on the likelihood of developing the disease, researchers found that by considering all of them at once, plus family history and genetics, they can identify groups of women who have different risks of developing breast cancer.

Importantly, for the first time, researchers have taken into account more than 300 genetic indicators for breast cancer. This makes calculating the risk much more precise than ever before.

From this, the researchers have created an online calculator for GPs to use in their surgeries.

Some GPs, practice nurses and genetic counsellors are testing this tool before it is considered for wider use. Doctors are prompted to answer a series of online questions about their patient including their medical and family history, whether they have any known genetic alterations linked to cancer, their weight and whether they drink alcohol.

In the future, information like this could help to tailor breast cancer screening depending on an individual’s risk. For example, it could help determine what age they are first invited for breast screening or how regularly they are invited to receive it.

̽��ֱ��risk calculation could also help people to make decisions about preventative therapy – such as identifying women at high risk who may benefit from taking the drug tamoxifen - as well as encouraging women to think about the ways they could reduce the risk themselves, for example trying to keep a healthy weight.

Professor Antonis Antoniou, lead author at the Department of Public Health and Primary Care, ̽��ֱ�� of Cambridge, said: “This is the first time that anyone has combined so many elements into one breast cancer prediction tool. It could be a game changer for breast cancer because now we can identify large numbers of women with different levels of risk – not just women who are at high risk.

“This should help doctors to tailor the care they provide depending on their patients’ level of risk. For example, some women may need additional appointments with their doctor to discuss screening or prevention options and others may just need advice on their lifestyle and diet.

“We hope this means more people can be diagnosed early and survive their disease for longer, but more research and trials are needed before we will fully understand how this could be used.”

Breast cancer is the most common cancer in the UK. Nearly 55,000 women are diagnosed with the disease each year. But a large proportion of breast cancer cases occur in people who are at an increased risk. Cancer Research UK has helped to double breast cancer survival over the last 40 years.

Dr Richard Roope, Cancer Research UK’s GP expert, said: “Research like this is hugely exciting because in the future it will enable us to offer much more tailored care which will benefit patients and make best use of the services that we have available.

“Although having an increased risk of breast cancer means a woman is more likely to develop the disease – it’s by no means a certainty. A woman at high risk may never get breast cancer just as a woman at low risk still could. But any woman with concerns should speak to her GP to discuss the options.”

Reference
Lee, A et al. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genetics in Medicine; 15 Jan 2019; DOI: 10.1038/s41436-018-0406-9

Adapted from a press release by Cancer Research UK

Scientists have created the most comprehensive method yet to predict a woman’s risk of breast cancer, according to a study led by researchers at the ̽��ֱ�� of Cambridge. ̽��ֱ��study, funded by Cancer Research, is published today in Genetics in Medicine.

It could be a game changer for breast cancer because now we can identify large numbers of women with different levels of risk – not just women who are at high risk

Antonis Antoniou

Anne Weston, Francis Crick Institute

Breast cancer cell

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