Test For Breast Cancer Risk Could Reduce Pre-Emptive Mastectomies

A genetic test that accurately predicts the risk of developing breast cancer could soon be used on high-risk groups.

Researchers behind the test say it could reduce the number of women choosing pre-emptive mastectomy surgery as they will be able to make more informed decisions about their care.

The blood test looks at 18 genetic variations, or single-nucleotide polymorphisms (SNPs), known to affect the chances of getting breast cancer.
It will initially only be available at St Mary’s hospital and Wythenshawe hospital in Manchester to women having tests for BRCA1 and BRCA2 gene mutations.

breast cancer, cancer research news, Breast cancer test, charity UK

A consultant analyses a mammogram: the research suggested the number of women choosing to have a mastectomy could be reduced from 50% to 36%. Photograph: Rui Vieira/PA

A study carried out by researchers at the hospitals and the University of Manchester analysed the DNA of 451 women with a family history of breast cancer who had developed the disease, using the information alongside other factors to predict an overall risk estimate.

Many of the women who were originally in the high-risk category were reclassified to a lower risk category, where risk-reducing breast removal surgery is not recommended.

The study suggested the number of women with BRCA1 and 2 mutations who choose to have a mastectomy could be reduced from 50% to about 36%.

Becky Measures, who had a mastectomy at Wythenshawe hospital 11 years ago after learning she carried the BRCA1 gene mutation, said: When they find that they have the BRCA1/2 gene, many women fear that they have to take action immediately. The new test will give women more options and help them to make a more informed decision.
Probably the most famous person to have undergone the surgery is actor Angelina Jolie, who made the decision after learning she had an up to 87% chance of developing breast cancer, a disease her mother had died of.

Following the revelation, referrals for the gene mutation tests more than doubled in the UK, which doctors described as the Angelina effect.

While all women with a BRCA gene mutation are given this same risk figure of 87%, it is actually much more complex and different for every person.

A breast cancer charity described the more tailored approach as an exciting development.

Lester Barr, the chairman of Prevent Breast Cancer, which partly funded the research, said: With more accurate genetic testing, we can better predict a woman’s risk of developing the disease and therefore offer the appropriate advice and support, rather than a ‘one size fits all’ approach.

Read more about: Breast Cancer Latest Research

Source: The Guardian

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National Breast Cancer Awareness Month | Key Terms You Should know

Mammogram. “Triple-negative.” “Tumor stage.”

Patients may hear some or all of these words while speaking to their doctors about breast cancer. Understanding these terms and how they can affect you may be key to getting the help you need.
Below are their definitions, as well some other common breast cancer-related terms and what they mean.

Benign: When something is not cancer.

BRCA-1 and BRCA-2: These two types of breast cancer susceptibility genes usually help protect you from getting cancer,” the Centers for Disease Control and Prevention (CDC) explain. “But when you have changes or mutations on one or both of your BRCA genes, cells are more likely to divide and change rapidly, which can lead to cancer.

Carcinoma: The term signifies “cancer that begins in the skin or in tissues that line or cover internal organs,” according to the charity Cancer Research UK.

Ductal carcinoma in situ (DCIS): It’s “essentially a cell that looks like a breast cancer but it’s confined in the ducts” of the breast, Dr. Laura Spring with Massachusetts General Hospital in Boston, told Fox News. It’s not yet able to spread distantly in the body, she explained.
Dr. Adam Brufsky, a University of Pittsburgh School of Medicine professor, stressed the importance of finding DCIS, saying that it could become invasive cancer if it’s left untreated.

HER2/neu: Human epidermal growth factor receptor 2 (HER2/neu) is a type of “protein involved in cell growth and survival and appears on the surface of some breast cancer cells, the Susan G. Komen website explains. Testing may be done to determine a patient’s HER2 status, which can indicate if there’s a high amount of HER2/neu in the cancer.
Patients may also be tested to find out their hormone receptor status, which indicates “whether or not a breast cancer needs hormones to grow,” Susan G. Komen says. HER2 status and hormone receptor status can affect the type of care someone gets.

Invasive ductal carcinoma: A type of breast cancer that begins in cells lining a duct before it “breaks through the wall of the duct, and grows into the nearby breast tissues,” the American Cancer Society (ACS) says.

Invasive lobular cancer: This breast cancer type begins in glands called lobules, according to the ACS.
Lumpectomy: When a lump and some tissue is removed from a breast.

Malignant: When something is cancer.

Mammogram: This is a low-dose x-ray that allows radiologists to look for changes in the breast, said Dr. Elizabeth Arleo, a radiologist with New York Presbyterian and Weill Cornell Medicine. She explained that it can find breast cancer early when it’s small even before a lump can be felt and it’s easiest to treat.
The U.S. Preventative Services Task Force (USPSTF) says online that it “recommends biennial screening mammography for women aged 50 to 74 years.
Women who place a higher value on the potential benefit than the potential harms may choose to begin biennial screening between the ages of 40 and 49 years, the task force says.
Arleo and others worked on a study published in August that used computer modeling to estimate the possible effects from three different screening recommendations on female breast cancer deaths, a news release said.

The team found that the recommendation of annual screening starting at age 40 would result in the greatest reduction in breast cancer–specific deaths: a nearly 40 percent reduction in deaths due to breast cancer, it said. Annual screening starting at 40 saves the most lives, Arleo told Fox News.

Mastectomy: This refers to surgery to remove a breast or part of a breast, MedLine Plus says.

Metastasis: This describes cancer extending to other areas of the body, the CDC says.

Occult cancer: This is when cancer is “hidden” and accidentally found, Brufsky explained.

Systemic therapy: This is when treatments such as hormone therapy and chemotherapy affect the entire body, according to Brufsky.

Triple-negative: This describes when tumor cells don’t have estrogen or progesterone receptors and also don’t have too much of the protein called HER2, the ACS says.

Tumor grade: It’s a measure of how quickly the tumor cells are dividing and how different they look compared to a normal cell, according to Spring.

Source: MSN News

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Dear Ms Causer,

I am writing to thank Breast Cancer Research Aid for your kind donation of £2000.00. We are most grateful for your continued support of the ICR and commitment to our mission: to continue to work towards defeating cancer through our groundbreaking research and translation into real clinical trials and therapy.

The ICR continues to be at the forefront of medical breakthroughs across a variety of cancer-related medical research. Our recent research strategy reflects our commitment to being at the cutting edge. With the recent discoveries around the evolution and complex genetic variety of cancers, we are setting out to find a deeper understanding of the said complexity in order to develop kinder, smarter therapy for individual patients.

Our work makes a real difference. However, it is only with the support, passion and belief of charities like yours, Breast Cancer Research Aid, that we are able to continue our research.

As you may be aware, Michael has left the ICR in order to pursue a new career opportunity. I would like to introduce myself, Jack Mullen, as your new point of contact here at the ICR. Michael has filled me in on the history of your charity, if there is anything that I can help you with then please do not hesitate to contact me. Thank you once again for your hard work and kind donation.

Kind regards

Jack Soares Mullen

Trusts and Corporate Fundraising Officer

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We are supporting Cardiff University’s European Cancer Stem Cell Research Institute

We are supporting Cardiff University’s European Cancer Stem Cell Research Institute with ground-breaking work they are doing on a finding new therapies for a particularly aggressive form of breast cancer.

The Institute is working on research into a form of breast cancer called ‘triple negative breast cancer’ or TNBC. This tends to be more aggressive and cannot be treated with hormonal therapy or trastuzumab, a common breast cancer treatment.

Researchers at the Institute have found a ‘molecular switch’ called LYN which exists at high levels in TNBC. It is particularly active in TNBC that develops in patients with a defective BRCA1 breast cancer gene.

In the laboratory, the researchers have found that BRCA1-TNBC cancer is very sensitive to blocking LYN and is killed by this approach. More needs to be found out about the physical properties and biology of LYN so that compounds can be developed that could be used in patients.

We are supporting the European Cancer Stem Cell Research Institute by helping to fund studies of this ‘molecular switch’, which will form the basis of the development of new therapies for breast cancer patients.

When discoveries such as this are made, a lot of work needs to go into taking the science from the lab to the bedside. It often involves many small steps that are often expensive. We are helping by giving the Institute flexible support so that they can direct their research down a number of different possible approaches.

 Other research programmes the Institute is working on include looking at how breast cancers develop resistance to new treatments and how to overcome that resistance, as well as more basic studies of breast cancer biology which aim to improve understanding of the cellular and genetic interactions that cause different sorts of breast cancer.

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Our Recent Research News

We have recently provided funding to the Institute of Cancer Research (ICR) to help support their ground-breaking breast cancer research programme.

The ICR is one of the world’s most influential research organisations. They are the world leaders in identifying cancer genes, discovering cancer drugs and developing precision radiotherapy.

The ICR relies on support from charities, donors, partner organisations and the general public. It does not receive any government funding. That is why we chose the ICR as the first organisation to receive funding from us.

There are over 150 scientists and clinicians working at the ICR’s Division of Breast Cancer Research. The division focuses on identifying the genetic and environmental causes of breast cancer, so that they can improve diagnosis and treatment, and discover targets for cancer therapies.

Researchers at the ICR were responsible for one of the biggest discoveries in cancer genetics – the identification of the breast cancer gene BRCA2. This discovery has meant that people with a family history of breast cancer can be assessed for their future risk.

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ICR’s research into liquid biopsy tests

ICR’s research into liquid biopsy tests

The ICR is at the center of ground-breaking research into liquid biopsy tests, which can predict which breast cancer patients will relapse. These new blood tests will mean women can benefit from targeted treatment without the need for uncomfortable biopsies.

We are supporting the ICR by helping to fund this kind of ground-breaking research.

The liquid biopsies use genetic techniques to detect breast cancer DNA in the blood stream. It sho

ws whether a patient is responding to treatment, when a treatment is stopping working, and gives valuable information on the next treatment to try.

The next step for the ICR with this exciting development is to demonstrate that it leads to better outcomes for breast cancer patients. They are currently recruiting patients to a trial that will identify mutations in metastatic breast cancer of individu

al patients and try to match them with specific targeted treatment.

The results of the trial will be available in around two years’ time, and the ICR expects the blood tests to be used in the NHS in the next five years.

This is a very fast-moving area and one that BCRA is excited to be supporting.

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Cardiff University/European Cancer Stem Cell Research Institute

Cardiff University/ European Cancer Stem Cell Research Institute

With the support of Breast Cancer Research Aid, researchers at Cardiff University’s European Cancer Stem Cell Research can carry out world-leading research which has the potential to revolutionise the way we tackle cancer. The study is intended to elaborate the understanding of cancer growth and spread with the development of therapies that have high efficacy and thus, will be able to make a difference in the lives of cancer patients. Your support will help us get there faster.

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BREAST CANCER : Symptoms, risk factors, and treatment

Breast cancer is the most common invasive cancer in women, and the second main cause of cancer death in women, after lung cancer.

Advances in screening and treatment have improved survival rates dramatically since 1989. There are around 3.1 million breast cancer survivors in the United States (U.S.). The chance of any woman dying from breast cancer is around 1 in 37, or 2.7 percent.

In 2017, around 252, 710 new diagnoses of breast cancer are expected in women, and around 40,610 women are likely to die from the disease.

Awareness of the symptoms and the need for screening are important ways of reducing the risk.

Breast cancer can affect men too, but this article will focus on breast cancer in women.


Fast facts on breast cancer:

Here are some key points about breast cancer. More detail is in the main article.

Breast cancer is the most common cancer among women. Symptoms include a lump or thickening of the breast, and changes to the skin or the nipple. Risk factors can be genetic, but some lifestyle factors, such as alcohol intake, make it more likely to happen. A range of treatments is available, including surgery, radiation therapy, and chemotherapy.

Many breast lumps are not cancerous, but any woman who is concerned about a lump or change should see a doctor.

What is breast cancer?

After puberty, a woman’s breast consists of fat, connective tissue, and thousands of lobules, tiny glands that produce milk for breast-feeding. Tiny tubes, or ducts, carry the milk toward the nipple.

In cancer, the body’s cells multiply uncontrollably. It is the excessive cell growth that causes cancer.


Breast cancer can be:

Ductal carcinoma: This begins in the milk duct and is the most common type.

Lobular carcinoma: This starts in the lobules. Invasive breast cancer is when the cancer cells break out from inside the lobules or ducts and invade nearby tissue, increasing the chance of spreading to other parts of the body.

Non-invasive breast cancer is when the cancer is still inside its place of origin and has not broken out. However, these cells can eventually develop into invasive breast cancer.


The first symptoms of breast cancer are usually an area of thickened tissue in the breast, or a lump in the breast or in an armpit.

Other symptoms include:

  • a pain in the armpits or breast that does not change with the monthly cycle
  • pitting or redness of the skin of the breast, like the skin of an orange
  • a rash around or on one of the nipples a discharge from a nipple, possibly containing blood
  • a sunken or inverted nipple
  • a change in the size or shape of the breast peeling, flaking, or scaling of the skin on the breast or nipple

Most lumps are not cancerous, but women should have them checked by a health care professional.

10 risk factors

Breast cancer usually starts in the inner lining of milk ducts or the lobules that supply them with milk. From there, it can spread to other parts of the body.

The exact cause remains unclear, but some risk factors make it more likely. Some of these are preventable.

  1. Age

The risk increases with age. At 20 years, the chance of developing breast cancer in the next decade is 0.6 percent. By the age of 70 years, this figure goes up to 3.84 percent.

  1. Genetics

If a close relative has or has had, breast cancer, the risk is higher.

Women who carry the BRCA1 and BRCA2 genes have a higher risk of developing breast cancer, ovarian cancer or both. These genes can be inherited. TP53 is another gene that is linked to a greater breast cancer risk.

  1. A history of breast cancer or breast lumps

Women who have had breast cancer before are more likely to have it again, compared with those who have no history of the disease.

Having some types of benign, or non-cancerous breast lumps increases the chance of developing cancer later on. Examples include atypical ductal hyperplasia or lobular carcinoma in situ.

  1. Dense breast tissue

Breast cancer is more likely to develop in higher density breast tissue.

  1. Estrogen exposure and breast-feeding

Being exposed to estrogen for a longer period appears to increase the risk of breast cancer.

This could be due to starting periods earlier or entering menopause later than average. Between these times, estrogen levels are higher.

Breast-feeding, especially for over 1 year, appears to reduce the chance of developing breast cancer, possibly because pregnancy followed by breastfeeding reduces exposure to estrogen.

  1. Body weight

Women who are overweight or have obesity after menopause may have a higher risk of developing breast cancer, possibly due to higher levels of estrogen. High sugar intake may also be a factor.

  1. Alcohol consumption

A higher rate of regular alcohol consumption appears to play a role. Studies have shown that women who consume more than 3 drinks a day have a 1.5 times higher risk.

  1. Radiation exposure

Undergoing radiation treatment for a cancer that is not breast cancer increases the risk of breast cancer later in life.

  1. Hormone treatments

The use of hormone replacement therapy (HRT) and oral birth control pills have been linked to breast cancer, due to increased levels of estrogen.

  1. Occupational hazards

In 2012, researchers concluded that exposure to certain carcinogens and endocrine disruptors, for example in the workplace, could be linked to breast cancer.

In 2007, scientists suggested that working night shifts could increase the risk of breast cancer, but more recent research concludes this is unlikely.


Cosmetic implants and breast cancer survival

Women with cosmetic breast implants who are diagnosed with breast cancer have a higher risk of dying from the disease and a 25 percent higher chance of being diagnosed at a later stage, compared with women without implants.

This could be due to due to the implants masking cancer during screening, or because the implants bring about changes in breast tissue. More research is needed.


A diagnosis often occurs as the result of routine screening, or when a woman approaches her doctor after detecting symptoms.

Some diagnostic tests and procedures help to confirm a diagnosis.

Breast exam

The physician will check the patient’s breasts for lumps and other symptoms.

The patient will be asked to sit or stand with her arms in different positions, such as above her head and by her sides.

Imaging tests

A mammogram is a type of x-ray commonly used for initial breast cancer screening. It produces images that can help detect any lumps or abnormalities.

A suspicious result can be followed up by further diagnosis. However, mammography sometimes shows up a suspicious area that is not cancer. This can lead to unnecessary stress and sometimes interventions.

An ultrasound scan can help differentiate between a solid mass or a fluid-filled cyst.

An MRI scan involves injecting a dye into the patient, so find out how far the cancer has spread.



A sample of tissue is surgically removed for laboratory analysis. This can show whether the cells are cancerous, and, if so, which type of cancer it is, including whether or not the cancer is hormone-sensitive.

Diagnosis also involves staging the cancer, to establish:

  • the size of a tumor
  • how far it has spread
  • whether it is invasive or non-invasive
  • whether it has metastasized, or spread to other parts of the body

Staging will affect the chances of recovery and will help decide on the best treatment options.



Treatment will depend on:

  • Chemotherapy can be an option for breast cancer.
  • Chemotherapy can be an option for breast cancer.
  • the type of breast cancer
  • the stage of the cancer
  • sensitivity to hormones
  • the patient’s age, overall health, and preferences

The main options include:

  • radiation therapy
  • surgery
  • biological therapy, or targeted drug therapy
  • hormone therapy
  • chemotherapy

Factors affecting the choice will include the stage of the cancer, other medical conditions, and individual preference.



If surgery is needed, the choice will depend on the diagnosis and the individual.

Lumpectomy: Removing the tumor and a small margin of healthy tissue around it can help prevent the spread of the cancer. This may be an option if the tumor is small and likely to be easy to separate from the surrounding tissue.

Mastectomy: Simple mastectomy involves removing the lobules, ducts, fatty tissue, nipple, areola, and some skin. Radical mastectomy removes muscle from the chest wall and the lymph nodes in the armpit as well.

Sentinel node biopsy: Removing one lymph node can stop the cancer spreading, because if breast cancer reaches a lymph node, it can spread further through the lymphatic system into other parts of the body.

Axillary lymph node dissection: If there are cancer cells on a node called the sentinel node, the surgeon may recommend removing several nymph nodes in the armpit to prevent the spread of disease.

Reconstruction: Following breast surgery, reconstruction can recreate the breast so that it looks similar to the other breast. This can be done at the same time as a mastectomy, or at a later date. The surgeon may use a breast implant, or tissue from another part of the patient’s body.


Radiation therapy

Controlled doses of radiation are targeted at the tumor to destroy the cancer cells. Used from around a month after surgery, along with chemotherapy, it can kill any remaining cancer cells.

Each session lasts a few minutes, and the patient may need three to five sessions per week for 3 to 6 weeks, depending on the aim and the extent of the cancer.

The type of breast cancer will dictate what type of radiation therapy, if any, is most suitable.

Adverse effects include fatigue, lymphedema, darkening of the breast skin, and irritation of the breast skin.



Medications known as cytotoxic drugs may be used to kill cancer cells, if there is a high risk of recurrence or spread. This is called adjuvant chemotherapy.

If the tumor is large, chemotherapy may be administered before surgery to shrink the tumor and make its removal easier. This is called neo-adjuvant chemotherapy.

Chemotherapy can also treat cancer that has metastasized, or spread to other parts of the body, and it can reduce some symptoms, especially in the later stages.

It may be used to reduce estrogen production, as estrogen can encourage the growth of some breast cancers.

Adverse effects include nausea, vomiting, loss of appetite, fatigue, sore mouth, hair loss, and a slightly higher susceptibility to infections. Medications can help control many of these.


Hormone blocking therapy

Hormone blocking therapy is used to prevent recurrence in hormone-sensitive breast cancers. These are often referred to as estrogen receptive (ER) positive and progesterone receptor (PR) positive cancers.

Hormone blocking therapy is normally used after surgery, but it may sometimes be used beforehand to shrink the tumor.

It may be the only option for patients who cannot undergo surgery, chemotherapy, or radiotherapy.

The effects normally last for up to 5 years after surgery. The treatment will have no effect on cancers that are not sensitive to hormones.

Examples include:

  • tamoxifen
  • aromatase inhibitors
  • ovarian ablation or suppression
  • a luteinising hormone-releasing hormone agonist (LHRHa) drug called Goserelin, to suppress the ovaries
  • Hormone treatment may affect a woman’s future fertility.

Biological treatment

Targeted drugs destroy specific types of breast cancer. Examples include trastuzumab (Herceptin), lapatinib (Tykerb), and bevacizumab (Avastin). These drugs are all used for different purposes.

Treatments for breast and other cancers can have severe adverse effects.

The patient should discuss with a doctor the risks involved and ways to minimize the negative effects, when deciding on treatment.

Prevention and outlook

There is no sure way to prevent breast cancer, but some lifestyle decisions can significantly reduce the risk of breast and other types of cancer.

These include:

  • avoiding excess alcohol consumption
  • following a healthy diet with plenty of fresh fruit and vegetables
  • getting enough exercise
  • maintaining a healthy body mass index (BMI)
  • Women should think carefully about their options for breast-feeding and the use of HRT following menopause, as these can affect the risk.
  • Preventive surgery is an option for women at high risk.


With treatment, a woman who receives a diagnosis of stage 0 or stage 1 breast cancer has an almost almost 100 percent chance of surviving for at least 5 years.

If the diagnosis is made at stage 4, the chance of surviving another 5 years is around 22 percent.

Regular checks and screening can help detect symptoms early. Women should discuss their options with a doctor.

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Cell shape ‘maps’ could point to new cancer treatments

Scientists have created a ‘map’ linking the shape of breast cancer cells to the activation of their genes, which could point towards new treatments and help improve the effectiveness of immunotherapies.

In a revolutionary new approach, Cancer Research UK-funded scientists at The Institute of Cancer Research, London, used large sets of data to map out a network of links between cell shape and genes.

The researchers analysed cell shape in millions of images of more than 300,000 breast cancer cells, and data for more than 28,000 different genes.

Their study, published in Genome Research, found that changes in cell shape, which can be caused by physical pressures on the tumour, are then reflected in important changes in gene activity.

When they then used their maps to analyse thousands of samples taken from women who took part in the Cancer Research UK funded METABRIC study, the researchers discovered that these changes are linked to clinical outcomes for patients.

Hubs for information

They also identified key areas or ‘stations’ within the network that acted as hubs for the flow of information, controlling the levels of many other genes.

Specifically, they found that a protein called NF-kappaB plays a central role in this shape-gene network and could drive the growth and spread of cancer cells. This response was associated with tumour grade in patients and could be used to predict survival.

A map of the network of links between cell shape and genes

A map of the network of links between cell shape and genes (image: HebaSailem) 

These findings suggest that because NF-kappaB is rarely faulty in solid tumours, the surrounding mechanical forces are playing a large role in disease progression by switching the gene on. Because NF-kappaB is an important part of the immune response to cancer, this work also suggests immunotherapies might be improved by changing the mechanical forces in the tumour.

‘An exciting link’

Study leader Dr Chris Bakal, team leader in dynamic cell systems at the ICR, said: “Our study reveals an exciting link between the forces that act on cancer cells and the development of the disease.

“We used ‘big data’ approaches to carry out a complex analysis that would once have taken decades in a matter of months. The maps we’ve created of cell shapes and their effects on gene activity provide important pointers to new forms of cancer treatment, and ways of making existing immunotherapies more effective.”

Professor Karen Vousden, Cancer Research UK’s chief scientist, said: “Understanding the links between how a breast cancer looks and acts, alongside its genetic makeup, will help researchers develop a more detailed picture of the disease.

“The insights and approaches used in this research could one day lead to us being able to tell from appearance, how aggressive someone’s cancer is and how likely to spread, helping doctors decide the best course of treatment.”


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One thousand cancer patients have gene testing through efficient, affordable new process 16 NOV 2016

A thousand breast and ovarian cancer patients have now benefited from a faster BRCA gene testing process that was developed in the UK and is being adopted around the globe.

The 1,000th cancer patient has had ‘mainstream’ gene testing through an innovative process that offers affordable gene testing to cancer patients at their cancer clinic appointment.

The new approach was developed by researchers at The Institute of Cancer Research, London, through the Mainstreaming Cancer Genetics (MCG) programme, funded by Welcome.

Cancer patients could previously only access gene testing if referred to a genetics clinic. Referral criteria were complex and waiting lists for genetic appointments were long – many cancer patients did not get testing, even if they were eligible for it.

Patient-centred testing

The ICR and The Royal Marsden NHS Foundation Trust began an innovative pilot in 2013 to provide faster, more efficient and more patient-centred testing through routine cancer clinic appointments.

The pilot was quickly successful, and in 2014 mainstream gene testing of the BRCA1 and BRCA2 genes in eligible cancer patients became routine NHS care at The Royal Marsden.

In just the two years since, 1,000 cancer patients have had gene testing using the new process.

Professor Nazneen Rahman, Head of Cancer Genetics at the ICR and The Royal Marsden, said: “There were two main problems with the traditional system for gene testing. Firstly, gene itself testing was slow and expensive, and secondly the process for accessing gene testing was slow and complex.

“We used new DNA sequencing technology to make a fast, accurate, affordable cancer gene test, which is now used across the UK. We then simplified test eligibility and brought testing to patients in the cancer clinic, rather than making them have another appointment, often in another hospital.”

These two innovations have greatly increased the number of patients that can benefit from testing, without increasing costs.

Video courtesy of MCG Programme

Faster results

The Royal Marsden now offers tests to three times as many patients a year as it used to. The new pathway is also much faster, with test results received within four weeks compared with 20 weeks in the old system.

The gene test result helps patients to get the best management for their cancer.

Miss Fiona MacNeill, Consultant Surgeon at The Royal Marsden and President of the Association of Breast Surgery, said: “Having the BRCA test result is very helpful when discussing the surgical options with breast cancer patients. Some women with a BRCA mutation choose to have bilateral mastectomy because their risk of getting a new cancer in either breast is increased. It has been great to be able to quickly and directly arrange for testing at the cancer clinic.”

The results also provide information about whether hereditary causes of cancer are relevant for a patient’s family members. All women found to have a BRCA mutation have an appointment with the genetics team who coordinate providing information to relatives.

Many relatives choose to have a test to see if they have inherited the mutation. This allows them to make more informed choices and gives opportunities to reduce cancers in women found to be at high risk.

A cost-effective system

The patient response has been overwhelmingly positive with more than 95% of cancer patients wanting testing.

Professor Rahman added: “The main reason we wanted to change the system was because patients were telling us that they wanted to have better access to gene testing. We are delighted patients have found it so helpful and that it is more cost-effective for our cash-strapped NHS”.

“Many other centres across the country and internationally are adopting mainstream gene testing. This will help many women with cancer and will prevent cancers in their relatives.”

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