breast cancer | Know Pathology Know Healthcare https://knowpathology.com.au The engine room of healthcare explained Wed, 26 Jul 2023 02:03:17 +0000 en-AU hourly 1 https://wordpress.org/?v=6.5.5 https://knowpathology.com.au/wp-content/uploads/2021/06/cropped-KPKH_Favicon-32x32.png breast cancer | Know Pathology Know Healthcare https://knowpathology.com.au 32 32 Broadening gene testing could prevent thousands of cancer cases https://knowpathology.com.au/broadening-gene-testing-could-prevent-thousands-of-cancer-cases/ Thu, 13 Aug 2020 02:10:40 +0000 http://knowpathology.com.au/?p=6063 Data from the Australian Institute of Health and Welfare estimates breast cancer to be the most commonly diagnosed cancer this year, with 19,974 cases of breast cancer predicted to be diagnosed across Australia. It also found that 1,532 cases of ovarian cancer will be diagnosed by the end of 2020. A piece of research headed … Continue reading Broadening gene testing could prevent thousands of cancer cases

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Data from the Australian Institute of Health and Welfare estimates breast cancer to be the most commonly diagnosed cancer this year, with 19,974 cases of breast cancer predicted to be diagnosed across Australia. It also found that 1,532 cases of ovarian cancer will be diagnosed by the end of 2020. A piece of research headed by Queen Mary University of London has looked at broadening screening to help prevent these cancers.

This latest research paper looked at testing for BRCA1 and BRCA2 – genes associated with increased risk of breast and ovarian cancer. Although not the only genetic abnormalities that are associated with increased risk, BRCA1 and BRCA2 are the most recognised breast and ovarian cancer-causing genes.

These gene mutations cause around 10-20 per cent of ovarian and 6 per cent of breast cancers. If mutation carriers could be identified before they develop disease, most of these cancers could be prevented by drugs, increased screening or surgery.

WATCH: Channel 10 news story on BRCA testing research with genetic pathologist, Dr Melody Caramins

The research suggests that screening more widely for breast and ovarian cancer gene mutations could prevent millions more breast and ovarian cancer cases across the world compared to current clinical practice. The research also shows that it is cost effective in high and upper-middle income countries. This means if guidelines were changed to offer screening to more women this could be beneficial to patients and the health system in the Australian economic landscape.

 

Genetic testing in Australia

As with all pathology tests, genetic testing is provided within a medical framework to ensure that testing is offered where it is clinically appropriate, offers benefit to the patient and is completed under strict quality guidelines. All predictive genetic testing must be done in the context of pre-test genetic counselling by highly qualified specialists as there are complex consequences for the patient and for their family that must be discussed prior to testing. This allows people to make an informed decision about whether to have the test.

Currently in Australia the guidelines to refer someone for testing are quite strict and rely on specific family history of cancer. This research makes the case to potentially reconsider those clinical guidelines for this type of testing, and whether the current threshold is appropriate and the most beneficial for Australian patients and the health system.

Nicole Braude is an ambassador for Pink Hope, an Australian organisation that provides women the necessary tools to assess, manage and reduce their risk of breast and ovarian cancer, while providing personalised support for at risk women. Nicole’s grandma died from breast cancer when she was only 34 years old. Getting the appropriate testing was something that was always in the back of Nicole’s mind growing up.

Speaking about her and her family’s experience of genetic testing and breast cancer Nicole said: “It turns out genetic testing was the best thing we ever did as it saved my sister’s life. They found the gene and she had a double mastectomy. I decided to have preventative surgery too after I took a risk assessment which revealed I had an 89.7% chance of developing breast cancer before the age of 40.I had the surgery and never looked back, I’m now 25 weeks pregnant and my baby is BRCA free. That news came as such a relief because my child will never have to worry like I did.”

 

Let’s talk numbers

Findings by Queen Mary University of London suggest that population based BRCA testing can prevent an additional 2,319-2,666 breast cancer and 327-449 ovarian cancer cases per million women than the current clinical strategy. The table below explains how that would be translated in terms of preventable deaths in each of the countries examined in this particular study.

Number of cancer deaths and cases prevented
Table: Number of cancer cases and deaths that would be prevented over a lifetime if genetic testing was offered to women aged 30+

Dr Melody Caramins is the National Director of Genomics and former chair of the Royal College of Pathologists of Australasia’s Genetics Advisory Committee. Speaking about the research findings Dr. Caramins said:

“The research results are startling and confirms that we must invest in cancer prevention. By broadening a simple genetic test and offering it to a wider population we could save thousands of Australian lives. Identifying a mutation at an early stage is the key and now we know that it can be cost effective within the healthcare system. The research findings are truly amazing.”

BRCA screening tests are available in Australia but only those who fit certain criteria, such as a strong family history of breast cancer, will be referred for testing. Broader population screening is not currently available.

Any changes to clinical guidelines for BRCA screening tests would require careful consideration and ensuring the appropriate resources were in place to support individuals and families. Genetic counselling is an important part of the process and must be available to anyone being offered testing. This is a highly skilled and complex role that requires years of training.

There are online resources available such as Pink Hope’s Know Your Risk tool, which was developed in partnership with Peter MacCallum Cancer Centre. Anyone who is concerned about their risk of breast or ovarian cancer can also speak to their GP in the first instance who may then refer them to a Family Cancer Centre, Clinical Geneticist, or Genetic Oncologist.


This research was led by Prof Ranjit Manchanda (Queen Mary University of London) and supported by Dr Rosa Legood (London School of Hygiene & Tropical Medicine). This research was an international collaboration involving research teams from Queen Mary University of London, London School of Hygiene & Tropical Medicine, and involved Amsterdam UMC, Vrije Universiteit Amsterdam (Netherlands); Universidade de Sao Paulo, Sao Paulo (Brazil); Peking University, Beijing (China); Indian Institute of Technology, Kharagpur (India); Presidency University, Kolkata (India); Tata Medical Centre, Kolkata (India); University of Melbourne, Victoria (Australia); Newcastle University (UK).

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Federal MP tours pathology lab after cancer diagnosis speech https://knowpathology.com.au/federal-mp-tours-pathology-lab-after-cancer-diagnosis-speech/ Thu, 29 Aug 2019 14:50:50 +0000 http://knowpathology.com.au/?p=5668 Lab tour comes just weeks after her emotional speech in Parliament Member of Parliament for Dunkley Peta Murphy visited a pathology laboratory at Peninsula Health in Frankston. The aim of the tour was to demonstrate the importance and value of pathology and show to the newly elected Member why Australia has some of the highest … Continue reading Federal MP tours pathology lab after cancer diagnosis speech

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Lab tour comes just weeks after her emotional speech in Parliament

Member of Parliament for Dunkley Peta Murphy visited a pathology laboratory at Peninsula Health in Frankston.

The aim of the tour was to demonstrate the importance and value of pathology and show to the newly elected Member why Australia has some of the highest quality pathology services in the world.

Know Pathology Know Healthcare ambassador Dr David Clift shared his knowledge with Ms Murphy. Dr Clift has been an anatomical pathologist for the past 40 years and told anecdotes from his extensive career.

One of the highlights on this particular tour was having the chance to see one of the pathologists studying a small intestine for abnormalities in the histopathology department. Witnessing this was not for the faint-hearted!

Ms Murphy also learnt about the importance and role of a hospital blood bank. Blood Bank Senior Scientist Michael Wiggins played some guessing games with the group and encouraged everyone to share what their blood group was. Unsurprisingly, only a few people on the tour knew their blood groups. Michael reassured everyone that this was not something to be too concerned about, as blood groups and antigens would always be thoroughly checked by his team before any blood transfusions.

Ms Murphy took a close look at some unusual slides through a multi-headed microscope in Haematology. This instrument allows multiple people, staff and students alike, to observe the same slide at once and discuss their findings.

Ms Murphy was impressed by the quality of the work and the dedication of the staff at the pathology lab. She has said that she will use her platform to voice the value of pathology and to ensure that more people know about what goes on behind the scenes.

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“I feel very lucky to have had this genetic test” https://knowpathology.com.au/lucky-to-have-breast-cancer-genetic-test/ Fri, 31 May 2019 04:20:06 +0000 http://knowpathology.com.au/?p=5565 Speaking on Channel 10’s program Studio 10, Sydney based product designer Luisa Lombardo said she is grateful for the insights delivered by genetic testing, information that may have saved her life. Luisa’s mother and grandmother both passed away from breast cancer when she was young indicating that Luisa could be of heightened risk of developing … Continue reading “I feel very lucky to have had this genetic test”

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Speaking on Channel 10’s program Studio 10, Sydney based product designer Luisa Lombardo said she is grateful for the insights delivered by genetic testing, information that may have saved her life.

Luisa’s mother and grandmother both passed away from breast cancer when she was young indicating that Luisa could be of heightened risk of developing the disease. Further investigation of her family tree revealed instances of breast and ovarian cancer on her father’s side, so the hereditary risk of developing a condition became greater still.

Luisa has been pursuing MRI checks for the last six years, but at an appointment this year, her specialist recommended genetic testing for a clearer picture of hereditary risk.

Luisa’s family all sought genetic testing and Luisa tested positive for a BRCA gene that confirmed the risk, so she underwent a preventative mastectomy this year.

Whilst this was a big step to take, Luisa says she feels “really lucky to have found out before anything happened, because most people discover they are a carrier of a gene following a cancer diagnosis”.

Genetic testing expert, Professor Rodney Scott, Director of Molecular Medicine at NSW Health Pathology, Hunter acknowledges that it is a big decision, but Luisa was acting based on the best information available.

“The tests performed in Australia are subject to a whole number of guidelines and recommendations and accreditations so that they’re as accurate as they can be. A preventative mastectomy will have reduced Luisa’s risk of breast cancer to the same as the rest of the population”.

More and more people are considering genetic testing to provide priceless data about their family history and risks of developing certain conditions.

Luisa says that the process was initially confronting, but ultimately what she now knows from the genetic tests is “amazing”.

Anyone seeking more information and support with breast cancer can contact Breast Cancer Network Australia.

*IMAGE: Luisa Lombardo pictured with Professor Rodney Scott at an appearance on Studio 10 discussing genetic testing for breast cancer 

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“I often think of myself as a medical detective” – Dr Mikkaela McCormack on her role as an Anatomical Pathologist https://knowpathology.com.au/medical-detective-dr-mikkaela-mccormack-anatomical-pathologist/ Thu, 01 Mar 2018 23:38:18 +0000 http://knowpathology.com.au/?p=4336 Anatomical Pathology is the branch of pathology that diagnoses disease by studying organs and tissue, so Anatomical Pathologists need a broad understanding of many body systems and diseases. We asked Dr Mikkaela McCormack, an Anatomical Pathologist in one of Victoria’s busiest labs, what led her into Anatomical Pathology and why she loves her job.   … Continue reading “I often think of myself as a medical detective” – Dr Mikkaela McCormack on her role as an Anatomical Pathologist

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Anatomical Pathology is the branch of pathology that diagnoses disease by studying organs and tissue, so Anatomical Pathologists need a broad understanding of many body systems and diseases.

We asked Dr Mikkaela McCormack, an Anatomical Pathologist in one of Victoria’s busiest labs, what led her into Anatomical Pathology and why she loves her job.

 

What made you decide to become an Anatomical Pathologist?

I first developed an interest in forensic pathology in high school, fuelled by my need to know the ‘whys’ of everything, combined with a strong scientific curiosity, a compulsion to problem solve, and a desire to help people.

I studied medicine and law at university, and after completing my final year elective at the Victorian Institute of Forensic Medicine I set my sights on specialising in forensic pathology.

I’d heard the best grounding for becoming a great forensic pathologist was being a good anatomical pathologist, so I made this my goal.  As I trained in both however, I realised that what had really enamoured me with pathology was the opportunity to give answers to questions in an engaging and intellectually interesting way.  Anatomical pathology allowed me to do this in a more wide-ranging fashion and working with living patients meant I could potentially have a positive impact on their lives.

 

What does a typical day look like for you?

On any given day I will ‘see’ 30 to 80 patients – well, I will see their tissue specimens under my microscope! I analyse their slides and provide their referring doctors with written reports outlining my diagnosis.

Most can be given answers based on simple histology sections, but many will require additional testing of antibodies, special staining techniques or increasingly, genetic testing that I will also need to interpret.

This is interspersed with various other responsibilities including guiding trainees on dissecting and sampling specimens, discussing difficult cases with colleagues (good pathologists are collaborative pathologists), attending multidisciplinary cancer meetings on complex patients, speaking with general practitioners, medical specialists and occasionally patients regarding their results, and working with clinical and academic colleagues on research projects.

I am also involved in business strategy, innovation and marketing for our organisation, which further fuels my enthusiasm for the profession.

 

What makes your job satisfying?

My work provides me with an endless and wide-ranging supply of questions to answer and problems to solve, to help patients from all walks of life.

I often think of myself as a medical detective; I find and decipher the clues within patients’ specimens and I use my knowledge and experience to solve the mystery of what pathological process was occurring in that tissue.

My answers need to be of the highest standard and dependability as they will direct other medical specialists in how to manage and treat those patients; they can be the difference between life and death.  This motivates my practice as a pathologist, and the knowledge that what I do positively affects people’s lives in a meaningful way is what makes my work satisfying – even if most of them aren’t aware of my existence!

Our specialty is in a constant state of fast-paced change, as we learn more about diseases thanks to scientific and technological advances. This requires constant learning and improving across multiple medical specialist areas. I also get to work collaboratively with other specialties, research institutions and industries to drive research, innovation, scientific discovery and the delivery of up to date and accessible medicine.

This is all incredibly exciting and makes it very easy to remain engaged in my career!

 

What are the most common conditions and samples that you deal with?

The nature of anatomical pathology means I work across multiple body systems, so on any given day I may diagnose a range of benign and neoplastic diseases within almost any organ, including breast, skin, lung, liver, bone, lymph node, gastrointestinal system or gynaecological system.

It is also important however, to foster a greater level of expertise within a smaller number of sub-speciality areas.  I am our laboratory’s main breast pathologist; I am involved in the daily diagnosis and management of benign and malignant breast disease and I also participate in multi-institutional breast cancer research.  My other areas of interest are in skin (neoplastic, inflammatory skin conditions and alopecia), urology (most commonly prostate specimens), and gastrointestinal and thyroid pathology.

 

What is the most unusual diagnosis you have made since working in pathology?

As a trainee, I examined a set of lungs from a young transplant patient suffering from a rare condition called lymphangioleiomyomatosis (LAM lung disease), which causes muscle cells in the lungs to multiply abnormally. This results in the formation of many large cysts, which can rupture and cause serious complications. The lungs also contained several small nodules, and when I examined them they showed features of a second disease, angiomyolipoma (AML).

These two diseases are classically found in patients with a genetic condition called tuberous sclerosis, but AML almost always occurs in the kidney. At that time the phenomenon of these small tumours also occurring in the lungs had not even been described in the literature.

 

What is your most memorable moment working in pathology?

Undertaking my first autopsy would have to be the moment in my career that holds the most meaning for me.  It is in some ways the most intimate and intrusive procedure we perform in medicine, and I felt the gravity and respect that comes with that. Whilst I don’t perform autopsies these days, I think that was the moment I first understood what it truly meant to be a pathologist.

 

What advice would you give to students or young people considering pathology careers?

Pathology is a slightly mysterious area of medicine, including for medical students and other doctors. The only way to know if you’d be interested in a career in pathology is to spend time within real pathology laboratories – meet the pathologists, scientists and support staff, ask them for honest answers to hundreds of questions about working in the laboratory. Observe, experience and get involved in the tasks that are part of the job. Then ask yourself if you could do those things for at least the next 5-10 years!

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Why pathology is a key weapon for families fighting ovarian cancer https://knowpathology.com.au/pathology-for-ovarian-cancer/ Thu, 01 Mar 2018 23:16:02 +0000 http://knowpathology.com.au/?p=4338 February marked Ovarian Cancer Awareness Month. It’s estimated that 1,613 Australian women will be diagnosed with ovarian cancer in 2018 – and 1,069 women will die from the disease. It has historically been difficult to detect early, and therefore difficult to treat effectively. But since the late 1980s the 5-year survival rate has improved – … Continue reading Why pathology is a key weapon for families fighting ovarian cancer

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February marked Ovarian Cancer Awareness Month. It’s estimated that 1,613 Australian women will be diagnosed with ovarian cancer in 2018 – and 1,069 women will die from the disease. It has historically been difficult to detect early, and therefore difficult to treat effectively. But since the late 1980s the 5-year survival rate has improved – from 34% to 44%.[1]

One of the aims of Ovarian Cancer Awareness Month is to educate Australians on the diagnosis and treatment of ovarian cancer. Pathology plays a huge role in this, especially in some of the most recent breakthroughs improving outcomes for women diagnosed with the disease.

Last month it was announced that the Peter MacCallum Cancer Centre in Melbourne is launching the Traceback program. The program will test 11,000 tissue samples from women diagnosed with ovarian cancer between 2001 and 2016 to see if they carry the BRCA gene mutations.[2]

The BRCA 1 and BRCA 2 genes produce tumour suppressor proteins, which play an important role in repairing damaged DNA. But specific mutations in these genes can stop them from being able to perform this role effectively and therefore cells are more likely to develop additional mutations which can lead to cancer.

Previous research indicates that approximately 15% to 20% of ovarian cancer patients carry a BRCA mutation, and the program leaders at the Peter MacCallum estimate they could discover as many as 1,500 women who have the mutation and don’t yet know.

By arming them with this knowledge the program is helping women to take any necessary preventative measures or to have regular testing or screening, to avoid another cancer in the future.

The program is important not just for the women themselves but for their families too; having a relative with a BRCA mutation raises a person’s risk of also having a gene mutation that could increase the likelihood of developing several types of cancer.

Approximately 44% of women with a BRCA1 mutation, and 16% of women with a BRCA2 mutation, will develop ovarian cancer by the age of 80. This is compared to 1.3% of the general population. The risk of breast cancer also increases for women with a BRCA mutation – around 70% of women with either mutation will develop breast cancer by 80. The mutations are also linked to increased risks of pancreatic cancer for men and women and prostate cancer for men.

The recent announcement from the Peter MacCallum is just the latest in a growing list of improvements to the accessibility of genetic testing for Australian patients.

Last year, for example, it was announced that the Medicare Benefits Schedule (MBS) would offer a rebate to women with breast or ovarian cancer who have the test. And if a mutation is found, their family members will also be eligible to have the test.

Cancers are most treatable when they are detected early, but this is often long before symptoms develop. Knowing about a genetic risk factor can save many lives – and that’s why more access to appropriate pathology testing is such a powerful weapon.

[1] https://ovarian-cancer.canceraustralia.gov.au/statistics

[2] http://www.abc.net.au/news/2018-02-06/ovarian-cancer-patients-tissue-samples-brca-mutation-test/9397470

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Finding the meaning of genes https://knowpathology.com.au/finding-the-meaning-of-genes/ Thu, 30 Mar 2017 22:31:07 +0000 http://knowpathology.com.au/?p=3737 We hear a lot in the news about breakthroughs in genetics but there is still a lot that isn’t known about our genes. The good news is it has never been easier for scientists and doctors around the world to collaborate and share information leading to new discoveries that can help patients. Australia now has … Continue reading Finding the meaning of genes

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We hear a lot in the news about breakthroughs in genetics but there is still a lot that isn’t known about our genes. The good news is it has never been easier for scientists and doctors around the world to collaborate and share information leading to new discoveries that can help patients.

Australia now has GenomeOne, the first organisation in the country to perform whole genome sequencing. So, how does genetic information from individuals contribute to the greater good?

Dr Heidi Rehm presented at Pathology Update in February on some projects helping to further scientists’ understanding of our genes.

In 2013, Dr Rehm convened a group to attempt to improve the process of finding the causes of rare diseases with a genetic component. Although genetic labs working with rare disease patients had databases containing genetic information, these were not joined up making it harder for clinicians and researchers to find other cases to compare to. This could help them find the genetic variation causing the disease.

Matchmaker Exchange was created to tackle this problem by creating a federated network of databases, where genetic information can be shared to help researchers and doctors treating people with rare genetic diseases.

The project is global, with data contributed via participating labs and collaborators all over the world.

Because the diseases are very rare, the process of identifying them is random, making it more difficult for researchers and clinicians to link up. They would have no way of knowing about other existing cases or when a new case will appear.

With another database called ClinVar, differences in interpreted variants between labs can be resolved making the classification of variants more accurate. This means more certainty for patients about whether they have a genetic variant that is pathogenic (disease-causing) or benign (not harmful).

Another project is the BRCA Challenge. This is run by the Global Alliance for Genomics and Health. It is designed to bring together resources to help experts classify variants in the BRCA genes, and clinicians access these interpretations with a user friendly website.

The purpose of the project is to enable better understanding of the genetic basis of cancers, such as breast cancer, where BRCA genes are a factor.

Classification is the process of evaluating evidence of new and existing gene mutations and determining whether or not they play a role in the disease. By pooling data researchers can classify gene variants that haven’t yet been classified. Advanced understanding of genetic variation in BRCA genes has the potential to improve diagnosis and prevention of disease.

There are some barriers to creating projects of this kind, said Dr Rehm; “Having enough resources to put the data together can be challenging and also the willingness of individual organisations to share their data can vary.”

Dr Rehm said no country is excluded from participating in Matchmaker Exchange, but certain geographic locations are less represented in the database; “Asia, Africa and South America have lower representation and this is for various reasons such as the number of people doing research in those areas and available resources.”

These projects and others like them offer great benefits to patients.

Dr Rehm said; “Thousands of patients are impacted every day. A greater understanding has allowed us to reclassify many genetic variants. For some patients that have been told they have a variant of uncertain significance, it may now be shown to be benign, which can provide great relief. There are also the patients whose cause of disease has been discovered as a result of this work. Every new discovery impacts at least one patient.”

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New year brings new tests for better treatment of cancer https://knowpathology.com.au/new-year-brings-new-tests-for-better-treatment-of-cancer/ Thu, 26 Jan 2017 08:26:49 +0000 http://knowpathology.com.au/?p=3567 Genetic testing for cancer is always evolving to help doctors provide the best treatment. A genetic test can be used to determine the best treatment for a disorder. For example, a genetic test of a person’s cancer can be used to identify those cancers which are likely to respond to a particular drug treatment. On … Continue reading New year brings new tests for better treatment of cancer

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Genetic testing for cancer is always evolving to help doctors provide the best treatment.

A genetic test can be used to determine the best treatment for a disorder. For example, a genetic test of a person’s cancer can be used to identify those cancers which are likely to respond to a particular drug treatment.

On 1st February 2017, a new genetic test will be added to the Medicare Benefits Schedule (MBS) that helps women with advanced ovarian cancer.

This test identifies women whose ovarian cancer is likely to respond to a chemotherapy drug called olaparib.

This new test accompanies the new listing of olaparib on the Pharmaceutical Benefits Scheme (PBS). Until now the drug has been largely inaccessible in Australia due to cost.

Both the new test and the new drug will become more readily available to Australians as they are now subsidised under Medicare for eligible patients.

The test examines the woman’s BRCA1 and BRCA2 genes. Women who have an inherited error in either gene are more likely to have a cancer which will respond to olaparib.

Dr Melody Caramins, an ambassador for Pathology Awareness Australia, was thrilled to hear of the upcoming addition to the MBS;

“This news will bring tremendous hope to women at an unbelievably stressful time in their life. Previously, the cost of the drug would have been prohibitive to many women, especially on top of their other out of pocket costs for investigations and monitoring.”

The drug is not proven to be effective for women without the BRCA gene mutation. Therefore it was only recommended as economically viable on the basis that a companion diagnostic test be made available that would determine if a woman was suitable or not. Dr Caramins said;

“By using BRCA testing before administering olaparib to the patient, doctors can avoid prescribing the drug to a woman who is unlikely to benefit from it, therefore saving them unnecessary treatment and side effects. Not to mention we avoid wasting healthcare dollars on ineffective treatment.

“By increasing the availability of these kinds of companion diagnostics we are opening up new channels of life-saving treatment for Australians. And that’s fantastic news all round.”

In patients who respond to treatment, olaparib can increase survival time almost threefold and improve quality of life for patients as it has less side effects than current treatments.

In addition to predicting the response to treatment, genetic testing can also be used to predict the risk of disease, including the risk among family members.

An application to add genetic testing for familial ovarian and breast cancer to the MBS has now cleared a major hurdle, with funding recommended by the Medical Services Advisory Committee (MSAC) of the Federal Department of Health. This recommendation is currently under consideration by the Minister of Health.

An inherited error in one of several genes, including BRCA1 and BRCA2, can place a woman at increased risk of developing breast and ovarian cancer. If a woman is affected by breast or ovarian cancer, a doctor can use her personal and family history to assess whether she is likely to have such a mutation and recommend that she be tested. If approved by the Minister, the cost of testing would be covered by Medicare.

For the affected woman, the identification of a mutation would place her at increased risk of developing breast or ovarian cancer a second time, and she can take specific precautions to reduce the risk of this occurring.

For the woman’s relatives, the impact is even greater. When a mutation is found, family members can have testing to clarify their own risk of developing breast and ovarian cancer – and of passing the same mutation on to their children. Female relatives with a mutation can take specific precautions to reduce the chance of a serious cancer diagnosis, while those who have not inherited the mutation can be spared unnecessary screening and anxiety.

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World-first screening trial for genes linked to breast and ovarian cancers https://knowpathology.com.au/screening-trial-genes-breast-ovarian-cancers/ Tue, 13 Dec 2016 02:13:53 +0000 http://knowpathology.com.au/?p=3203 The Peter MacCallum Cancer Centre is going to be undertaking a world-first screening trial to determine how many women out of a participating 10,000 are carriers of common gene mutations associated with cancer. The trial could be the first step towards routine screening for all women to assist in earlier diagnosis and increased life expectancy … Continue reading World-first screening trial for genes linked to breast and ovarian cancers

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The Peter MacCallum Cancer Centre is going to be undertaking a world-first screening trial to determine how many women out of a participating 10,000 are carriers of common gene mutations associated with cancer.

The trial could be the first step towards routine screening for all women to assist in earlier diagnosis and increased life expectancy for cancer patients.

The hospital have already completed a pilot study, screening 2,000 women. The study showed that for every 100 women tested one new carrier of genetic mutations was uncovered. The head of the Cancer Genetics Laboratory, Professor Ian Campbell explained;

“For every one person you detect with the screening, you would automatically identify another three to five mutation carriers as you extend the screening among their family.”

And furthermore, Prof Campbell explained that the screening was seen positively by the participants;

“They were upset that they were carriers, but ultimately they were all happy that it had been detected and hopeful that they can head off getting the cancer.”

The pilot looked at two gene mutations – in the BRCA1 and BRCA2 genes. Previous studies have shown that these mutations increase a woman’s risk of breast cancer and ovarian cancer by 85% and 65% respectively.

Currently a woman is only screened for the mutations after she or someone in her family is diagnosed. However, around half of those with one of the mutations don’t have a family history.

This kind of population based screening could have the potential to catch individual cancer cases earlier through increased screening or prevent them through risk reduction (e.g. women opting to undergo preventative mastectomies).

The new $1 million study funded by the National Health and Medical Research Council starting next month will screen participants from Lifepool, a database of 53,000 women.

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“Throughout the last five years pathology has been a big part of my life” – tests help Ros fight 2 types of cancer https://knowpathology.com.au/ros-fight-cancer/ Tue, 15 Nov 2016 00:28:06 +0000 http://knowpathology.com.au/?p=2695 Wodonga resident, 72-year-old Ros Clauson has learned the value of pathology as a nurse, a pathology collector and as a patient with two different types of cancer. Ros began her healthcare career as a nurse, training at the Royal Melbourne Hospital 50 years ago and spent the last few years of her career working as … Continue reading “Throughout the last five years pathology has been a big part of my life” – tests help Ros fight 2 types of cancer

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Wodonga resident, 72-year-old Ros Clauson has learned the value of pathology as a nurse, a pathology collector and as a patient with two different types of cancer.

Ros began her healthcare career as a nurse, training at the Royal Melbourne Hospital 50 years ago and spent the last few years of her career working as a pathology collector before retiring at Christmas last year.

Ros was first diagnosed with breast cancer in 2011. She was called back for further examination after an abnormal breast screen and then underwent a fine needle aspiration biopsy and a lumpectomy. This confirmed she had breast cancer that was spreading to her lymph nodes.

Doctors treated Ros using chemotherapy and radiation therapy during which pathology was vital to guide treatment.

Blood tests every three weeks tracked her health during chemotherapy as drug doses must be carefully monitored for side effects.

“Pathology was fantastic” said Ros. “Without it, the doctors would be pouring quite toxic drugs into me without knowing what was going on!”

Although now in remission for her breast cancer, she was diagnosed with Chronic Lymphocytic Leukaemia (CLL) about a year ago.

A blood test showed abnormal red and white blood cell counts. Further blood tests and a bone marrow biopsy confirmed that Ros had CLL. Luckily the disease was caught in its infancy. She has no symptoms and at the moment she does not require treatment.

Doctors use the results of frequent blood tests and annual bone marrow biopsies to monitor her and assess disease progression.

“Throughout the last five years pathology has been a big part of my life, with regular blood tests as well as the bone marrow biopsy and lymph node biopsy I’ve been no stranger to the pathology team!”

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“Pathology is vital when you’re battling cancer” https://knowpathology.com.au/pathology-is-vital-when-youre-battling-cancer/ Fri, 23 Oct 2015 20:56:36 +0000 http://knowpathology.com.au/?p=2657 It is an impressive statistic that pathology is used to diagnose 100% of cancers, but this is not the end of pathology’s involvement in helping people with cancer. October is Breast Cancer Awareness month, so we decided to look at the various ways in which pathology is integral to the effective treatment of breast cancer. … Continue reading “Pathology is vital when you’re battling cancer”

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It is an impressive statistic that pathology is used to diagnose 100% of cancers, but this is not the end of pathology’s involvement in helping people with cancer.

October is Breast Cancer Awareness month, so we decided to look at the various ways in which pathology is integral to the effective treatment of breast cancer.

Kathy Wells, Head of Policy, Research and Advocacy at Breast Cancer Network Australia (BCNA) said “Breast cancer is no longer considered to be one disease. There are many different subtypes and the pathology report provides important information to help clinicians and their patients decide the best treatment for each woman’s particular type of breast cancer.”

Pathology’s role in diagnosis

Investigations for breast cancer may begin with an abnormality detected in a mammogram or following a patient noticing an unfamiliar lump in their breast, but a confirmed diagnosis of breast cancer can only be given by pathology testing.

Not all lumps are malignant therefore a tissue sample must be tested. A sample or biopsy of the lump is taken and then examined by a pathologist who will confirm if the lump is cancerous or establish that it is benign.

Pathology provides vital answers

A person with confirmed breast cancer will undergo surgery to have the tumour removed and the tissue is given to a pathologist to examine.

From this surgical sample, the pathologist extracts important information about the tumour type and size. The pathologist will also look at the amount of uninvolved healthy breast tissue which separates the tumour from the ‘margins of excision’ – the edges of the tissue the surgeon has removed. This is important as a measure of complete tumour removal.

The pathologist will examine the same sample to determine a number of possibilities; whether the tumour has spread to adjacent body tissues, if the tumour cells are responsive to the hormones oestrogen and progesterone, and if they express the hallmarks of the HER2 gene or the characteristics of tumours which may be inherited within families.

This forms the advanced information needed by the cancer specialist to determine exactly which treatments should be offered to that person; this is now known as personalised medicine.

How pathology informs treatment

People with breast cancer may need to undergo chemotherapy to treat cancer cells left in the body after surgery and help prevent cancer coming back.

Several different drugs are available to treat cancer, and which drug is most appropriate will depend on the characteristics of cancer, such as what stage it is at and whether it is HER2 positive or negative.

Drugs that are listed on the Pharmaceutical Benefits Scheme (PBS) for the treatment of breast cancer can be subsidised, but only for patients who meet the eligibility criteria. A pathology report is a vital part of demonstrating a patient’s eligibility for access to these drugs.

Trastuzumab works by blocking signals to certain receptors on the surface of cancer cells. The receptors being targeted are made by the HER2 gene and so are called HER2 receptors. When cancer has an ‘overexpression’ of HER2 meaning too many copies of the HER2 gene, more receptors are produced causing cancer to grow quickly. This is called HER2 positive breast cancer.

The drug works on HER2 receptors, it is most effective for patients whose cancer is HER2 positive and is unlikely to be effective for HER2 negative breast cancer. That is why pathology is essential to determine whether or not the drug is right for a patient, and to help them gain access to it.

Monitoring during treatment

Alongside personalising treatment by using genetic information, pathology is also used to help doctors fine-tune chemotherapy. Blood tests will help doctors to monitor neutrophils – a type of white blood cell. As chemotherapy works by “knocking out” the immune system, monitoring white blood cell levels helps doctors understand how a patient is responding to treatment. They can then adjust the dosage and frequency of chemotherapy to ensure the best outcomes for patients.

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