‘My diagnosis hit me in the face’: readers on living with breast cancer.


The rosy glow of ‘Pinktober‘ is everywhere this month, so we asked Guardian readers how cancer has changed their lives

‘I had chemotherapy during my last two trimesters of pregnancy’

Heidi, breast cancer patientHeidi, 44, Indiana

I was pregnant when diagnosed with breast cancer, and had chemotherapy during my last two trimesters of pregnancy. I’ve had lumpectomies, a mastectomy, reconstruction, oophorectomy, chemotherapy, radiation, and have taken more medicine than I can remember. My son was born healthy, strong and very handsome, in spite of his dangerous start. He is wonderful. Chronic pain and fatigue are constant reminders of my cancer, but knowing I persevered for someone other than myself is the greatest reward.

On ‘Pinktober’: To me, the positive comes from helping other people going through this journey – women, men, children. When one person in a family is diagnosed, they all play a part in what happens after diagnosis. Friends, colleagues or church members all want to help, but are sometimes unsure what to do. I’ve found great comfort in helping people identify those needs.

Also, not all charities actually care about breast cancer patients. Some, horribly, only see cancer as a business model or a strategic plan to help boost product sales or worse, careers. People need to diligently research where their money is going, and if it actually helps patients.

‘Two experiences with breast cancer: my wife’s and my own’

Oliver, breast cancer patientOliver, 47, Houston, Texas

I have two experiences with breast cancer: as caregiver for my wife as she went through treatment six years ago, and my own diagnosis and treatment starting in September 2012. We had near-identical treatments: six months of chemo, mastectomy and then radiation, followed by years of Tamoxifen. Of course the odds of this are small. Sharing this experience has brought us closer in an unexpected way, and we understand each other’s fear of recurrence completely.

On ‘Pinktober’: The stark reality of what breast cancer means to many people gets lost [in awareness campaigns.] The focus is on early stage disease in women, with relatively easy treatment and good outcomes. People are invited to celebrate cancer. For many it is a threat to their well being, even their life. Male breast cancer, metastatic breast cancer, triple negative breast cancer, inflammatory breast cancer and breast cancer in young women all get lost.

‘I tested positive for the BRCA gene mutation’

Lori, breast cancer patientLori, 46, New York, New York

I was diagnosed with breast cancer on 28 March 2011. The tumor was in my left breast and was an invasive ductal carcinoma that was 3.5cm long, Estrogen, Progesterone and HER positive, stage IIB. The only reason I even knew something was wrong was that I had pain in my left breast. I went to the doctor who referred me to a radiologist. I was given a mammogram, an ultrasound and a very, very painful biopsy. After a very long weekend, I was told by phone that I had cancer.

I was presented with three options: a lumpectomy, a single mastectomy, or double mastectomy. The deciding factor would be a test for the BRCA gene mutation, but this would delay any action by at least two weeks. After careful consideration that day, I opted for a double mastectomy. I joked that I had wanted a breast reduction anyway and that it should be a matching pair, but honestly, I had a strong suspicion about how the test would turn out since Ashkenazi (eastern European) Jews, of which I am one, have the highest risk of being a carrier. As it turned out, I was right.

A few nights before the double mastectomy, I decided that the only way to decimate a bully (cancer) is to laugh at it. So I invited my friends to my “Bye Bye Boobies” Party. We spared no insult to the boobies that were making my life hell. A Triple-D red velvet cake, lots of dairy products and a song, set to “Bye Bye Baby” to wish them boobies a long goodbye.

On ‘Pinktober’: It misses the actuality of what breast cancer really is. Pink ribbons infantilize the disease and make it appear to be cute – “Pretty in Pink“. There is nothing about breast cancer that is pretty or pink. More information needs to get out to the public about the genetic factors and environmental factors that cause breast cancer and how we need to address these in a way to put people out of harm’s way.

‘I began to think about this as a journey of silver linings’

Ljuba, breast cancer patientLjuba, 31, Cupertino, California

My breast cancer diagnosis hit me straight in my face. I had given birth to beautiful twin girls nine months prior. Saying that my husband and I had our hands full would be putting it mildly. I got “the call” while being told about a potentially necessary skull surgery for one of my twin daughters. “Do you have some time to talk?” my doctor asked. I knew it before she talked me through the rest. My husband knew just by looking at my face. Talk about curveballs.

Me? Now? I was 31, too young for any routine screening. With two babies and a very aggressively growing tumor. One week it measured at 1cm, three weeks later it was estimated at 4cm. The next couple of weeks revolved around waiting for more tests and appointments, while feeling and seeing the mass in my breast grow. This was my rock bottom. It could only get better from there.

But this is where the unexpected part came in.

My daughter didn’t need the surgery after all and I was referred to one of the best cancer centers in the US. The first word that I heard from my oncologist was “curable”. I was surrounded with a team of doctors, surgeons, nurses, dieticians and genetics specialists. I received my first chemotherapy and suddenly began to think about this as a journey of silver linings. An aggressively growing tumor also meant in my case that it was “hungry” and thus eagerly absorbing the chemo. It was half its size after two treatments. The fast metabolism of a young and otherwise healthy body initially caused the cancer to grow quickly, but on the flip side mastered the task of coping with the side effects of the nuclear cocktails injected into my veins.

I lost my hair and started wearing a wig. Getting ready in the morning became a piece of cake. No endless manoeuvring of styling tools and products – perfect salon hair in seconds. My nails stopped growing and manicures would last for weeks. I had a double mastectomy a month ago and am in the process of plastic reconstruction. I can choose my bra cup size and these babies will never sag – what’s not to like? Sure, there were plenty of “one step forward, two steps back” moments in my journey and I am not at the finish line quite yet, but focusing on maintaining a sense of normalcy in my life (I worked part-time, taking days off for treatment, and most of my colleagues still don’t know of my diagnosis) helped me to get through this. But at the core of everything were the silver linings. They will continue to carry me to the last page of this chapter of my life.

On ‘Pinktober’: While I support awareness initiatives, especially for serious illnesses, breast cancer awareness month here in the US has a slightly foul aftertaste of what we call a Hallmark holiday. Pink ribbons on everything from yogurt to toilet paper. A potentially lethal and devastating disease reduced to a sparkly bumper sticker. And while I am thrilled that a percentage of these funds goes towards research, I can’t get rid of this foul aftertaste.

‘I never had a breakdown cry or questioned why’

Amy, breast cancer patientAmy, 39, Huntsville, Alabama

I found out in April, at age 38, that I had breast cancer. I never had a breakdown cry or questioned why. Surprise! Not even once! It’s not because I’m unaware of how serious cancer is, nor is it because I’m in some denial of what I have or what I could lose. It’s not because I’m especially strong or fearless.

I believe it helps that I look at the entire process through the eyes of acceptance and think about what I’m gaining. I accept that I have cancer and the possible outcomes. I accept that it does not define me. I will gain knowledge and experience from having cancer, as well as gain the ability to display my beliefs and principles, and set a good example for my children and family. I believe the most important life lessons don’t come from easy paths; it’s the struggles that show us what we’re made of.

Cancer throws you into a new world, one that can be consumed by your own existence, pain, and treatment. Finding a way to step outside of yourself and look beyond your own cancer is beneficial. There is good in making time and focusing on others, because someone else always has it worse.

When I look around during any chemotherapy treatment, I see that it could be worse: someone younger, someone older, someone suffering more, someone suffering alone … the list goes on. I have spent every one of my chemo sessions talking to the nurses, doctors and volunteers that come my way. I try to remember something personal about them for when I see them again. I have joked and teased with my chemo buddies and tried to make them laugh and feel better, because often I see how lucky I am when I’m there. I see people of all ages afraid, unsure and worried. I feel fortunate by getting to know someone and find a way to get a smile or laugh out of them, and most of the time I do. That is a gift for me!

Cancer does not define me, how I handle cancer defines me. I am going to keep my crazy positive outlook and feel fortunate that I have the ability to fight cancer.

‘I had to learn to shut out the opinions of other people’

Lana, 52, Denver, Colorado

I had stage two triple negative breast cancer, no metastases. Several friends and family members were mortified that I was going to have chemotherapy. They insisted I should try alternative therapies or homeopathic remedies rather than “put poison in my body”. I know those comments came from a place of fear and love for me, but I soon learned to shut out the opinions of other people and march on with the course of treatment my oncologist told me was the only option to kill “the monster.”

No one really knows what it’s like to have cancer, unless they’ve had cancer. That’s the bottom line. We all do what we have to do, individually, to face it, fight it and move on.

On ‘Pinktober’: There seems to be an ever-growing perception (through marketing messages) that we have control over our bodies and can avoid getting cancer. In turn, that translates to many of us as “if you got breast cancer, you must have done something to get it” – ate too much sugar; had a lousy diet; didn’t exercise, etc. There are many of us out here who did everything right (diet, exercise) and got cancer anyway.

I call it The Cancer Crap Shoot. We don’t carry the identified genes and don’t have a family history. So, I think the emphasis needs to be on empowerment: early detection, learning your risk factors and demanding screening (particularly for women 40 and younger if you are at high risk), and even bypassing traditional diagnostics (going straight to MRI or whole-breast ultrasound if you have dense breast tissue).

Yes, diet and exercise are important, however, other physiological factors have been determined to impact risk and women should be educated about them as well (inflammation; keeping your immune system healthy; learning healthy ways of coping with stress).

‘Damage was done to my brain’

Anne Marie, breast cancer patientAnne Marie, New York, New York 

It has been very difficult for me to accept the limitations caused by whatever damage was done to my brain. I was always super organized and could multitask without any issues. Now, I’m lucky if I pay my bills on time.

Realizing I can’t accomplish half of what I could in the past is disappointing, but the fact that I was forced to change directions from office management to writing has been fulfilling in ways I could not have dreamed possible. I try to focus on the fact that I am doing something I love.

On ‘Pinktober’: Breast cancer research has seen many successes over the past decades. Yet, when it is broken down and really examined, we haven’t made the great strides that are hyped, especially during October as we are strangled by pink ribbons.

Treatment is still barbaric. The fact that early detection doesn’t guarantee the disease won’t spread outside the breast is rarely spoken about. The fact that the death rate is substantially unchanged in over 40 years is another problem. Breast cancer is not the great success story it’s hyped to be, it’s just the one that’s been marketed the best.

Who Owns Human Genes?


Angelina Jolie’s recent disclosure that she had undergone a prophylactic double mastectomy following a positive test for a BRCA1 mutation (which increases lifetime breast cancer risk by 60%-87%) prompted a national conversation about genetic testing and preventive surgery.1 Tests for BRCA1 and BRCA2 cost more than $3000, placing them beyond the reach of many women. The high cost is partly a consequence of intellectual property protection afforded to Myriad Genetics Inc, which sequenced the genes and developed the testing capability.

The Patent Act permits exclusive control for a limited time (currently 20 years) of any “process, machine, manufacture, or composition of matter.” Following a US Supreme Court ruling upholding the patentability of a microbe that dissolves oil,2 the US Patent and Trademark Office (USPTO) began routinely granting gene patents. On June 13, 2013, the US Supreme Court unanimously held that extracted and isolated DNA is a product of nature and not eligible for patent, but that complementary DNA (cDNA), which is synthetic DNA created in the laboratory, is patentable because it is not naturally occurring.3

The compromise ruling acknowledged difficult issues in a simmering controversy. Granting commercial rights over naturally occurring biological products seemed unethical because industry should not be able to control access to unaltered materials found in nature. However, failure to afford intellectual property protection could stifle innovation, robbing entrepreneurs of financial incentives for discovery. Myriad lost the exclusive right to isolate the BRCA1 and BRCA2 genes of individuals, but maintained the right to its unique method of synthetically creating BRCA cDNA to produce and market its tests.

SHAPING THE COURSE OF RESEARCH

The Court’s decision will influence the future of human genome research. The rapidly evolving capacity to sequence the genome will usher in an era of relatively inexpensive screening for multiple risks. Myriad plans to phase out BRCA gene tests by mid-2015, marketing instead a more comprehensive test panel for 25 genes. Competitor laboratories will also introduce panels, ultimately enabling detection of hundreds of genes.5

Research will be affected beyond human genetics; for example, researchers will likely challenge existing patents on bacterial genes. The Court’s decision may also affect intellectual property protection afforded to a wide variety of naturally occurring substances, such as innovations derived from microorganisms or plants.

Ideally, the law ought to facilitate science as well as make lifesaving technologies more affordable and accessible. The future should be filled with excitement as scientists and innovator companies expand the horizon of medical technologies to prevent, detect, and treat human diseases. Achieving this vision will require massive public investment, private innovation, and the useful application of new diagnostics and pharmaceuticals through the health care system.

REFERENCES

1

Jolie A. My medical choice. New York Times. May 14, 2013; A25.

2

Diamond v Chakrabarty, 447 US 303 (1980).

3

Association for Molecular Pathology v Myriad Genetics, 569 US ___ (2013).

4

Mayo Collaborative Services v Prometheus Laboratories, Inc, 132 S Ct 1289 (2012).

5

Pollack A. After DNA patent ruling, availability of genetic tests could broaden. New York Times. June 14, 2013; A16.

Source: JAMA

 

 

Supreme Court Nixes Patenting Human Genes.


The Justices have decided that isolated sequences of human DNA are not eligible for patent protection, but rules that artificial sequences can be patented.

US_Supreme_Court_310

 The United States Supreme Court has today (June 13) unanimously ruled that isolated human genes cannot be patented, but the Justices also ruled that synthetic DNA sequences—known as complimentary DNA (cDNA)—are eligible for protection. “A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated,” wrote Justice Clarence Thomas, “but cDNA is patent eligible because it is not naturally occurring.”

The decision throws out patents held by Utah-based Myriad Genetics on 2 genes—BRCA1 andBRCA2—that when mutated cause breast and other types of cancer. Researchers, physicians, and patients who sued Myriad are claiming victory because the ruling means that the company no longer has a monopoly on diagnostic tests based on these two genes. This could result in increased competition, falling costs, and greater access for low-income patients.

“The Court struck down a major barrier to patient care and medical innovation,” Sandra Park, an attorney with the American Civil Liberties Union Women’s Rights Project, told USA Today. “Myriad did not invent the BRCA genes and should not control them. Because of this ruling, patients will have greater access to genetic testing, and scientists can engage in research on these genes without fear of being sued.”

Francis Collins, Director of the National Institutes of Health, added: “The decision represents a victory for all those eagerly awaiting more individualized, gene-based approaches to medical care. The right to control exclusively the use of a patient’s genes could have made it more difficult to access new tests and treatments.”

The decision is also something of a compromise, however, because it allows biotech companies to patent artificial DNA sequences. Myriad and other companies had argued that a ruling against gene patenting would undermine billions of dollars of investment from the biotech industry and impede medical progress. With this ruling, they still have ways to profit from their research.

Source: http://www.the-scientist.com

 

 

What is BRCA1?


OtnaYdur_breast-cancer_Shutterstock

Actress Angelina Jolie has today written an op-ed in The New York Times explaining that she has opted to have a double mastectomy because she carries the hereditary BRCA1 gene, which she says increases her risk of breast cancer by 87%. Her mother died from breast cancer after a ten-year struggle at the age of 56.

We asked an expert in breast cancer and genetics to explain more about the breast cancer genetic mutation and what it means for women.

What are the BRCA1 (and BRCA2) gene mutations?

BRCA1 and BRCA2 are genes that have been linked to hereditary breast and ovarian cancer. Women who inherit one of these faulty genes are at an increased risk of breast or ovarian cancer. Men who inherit a faulty gene may be at increased risk of prostate cancer. Breast cancer in men carrying BRCA2 has also been described in the medical literature.

These genes are important in helping repair breaks in the DNA in our cells, so a faulty gene can mean that DNA repair is less than optimal. In some people this can lead to the development of cancer.

Should I be getting tested for them?

Not routinely. In general terms, genetic testing should be carried out following counselling in a familial cancer centre after a proper assessment of risk.

Testing is offered to people who have developed breast or ovarian cancer where there are features that might suggest a mutation is present.

These can include an early age of onset of cancer, or cancer in both breasts, multiple cancers in the family, male breast cancer, ovarian cancer, certain ancestry (such eastern European Jewish ancestry), or where there is a known mutation in the family.

Sometimes the appearance of a tumour, reported by the pathologist can help make a decision regarding whether testing is necessary.

How are they tested for?

This is generally done through a blood sample.

What is the cost of the test/s and why?

At present testing for these genes in Australia is expensive – about A$2,000 to A$2,500 – but costs are coming down.

Once a mutation has been identified in a family member, other members can be tested and this is much cheaper.

In Australia, the test is offered for free in familial cancer centres where a person meets suitable criteria for testing.

How many people are affected?

About 5% of all breast cancers are hereditary, and can involve the BRCA1 or BRCA2 gene. That is why it is important to look for special features that suggest risk.

In our community the risk of carrying a gene is relatively rare at about 1:800 for each of the mutations.

Say I have the gene/s, what is the likelihood that I will develop (a) breast cancer and (b) ovarian cancer?

Having the gene does not mean that a woman will definitely develop either of the cancers.

The risk is believed to be on average somewhere between 40% and 65% for breast and 15% to 40% for ovary, depending on the gene.

In her op-ed, Angelina Jolie said her risk of developing breast cancer was 87% and that she had a 50% risk of developing ovarian cancer. This is because the risk for BRCA1 carriers can be higher than for BRCA2 carriers.

Jolie has reported the upper end of risk for breast cancer that was first described when the gene was discovered. Looking at the general population, the risk is probably less, but for some families with very striking family histories, it could be this high.

What are the treatment options?

If a cancer develops, it is often treated in a very similar fashion to other breast or ovarian cancers.

For breast cancer, sometimes women might consider more extensive surgery (such as mastectomies). There are new drugs called PARP inhibitors that are being developed tested for BRCA-associated cancers.

What are the prevention options?

There are a number of options. For breast cancer, this includes close monitoring which includes MRI scans and mammograms starting at a suitable age.

Breast cancer prevention drugs such as Tamoxifen are likely to be helpful and may even halve the risk of getting breast cancer.

Some women may consider mastectomy with breast reconstruction. The uptake of this option differs; on average about 20% of women carrying the genes take this option in Australia but the precise numbers are not known.

Importantly, due to the potential risk of ovarian cancer some women will be advised to have their fallopian tubes and ovaries removed at a suitable age (and after they have had children).

If this is carried out at age 40, it can halve breast cancer risk. It is known to be safe to give women hormone replacement therapy in most cases, so that they don’t experience menopausal symptoms.

What are the side-effects of mastectomies, if any?

These are generally minimal. In the short term, there can be surgical risks of infection and bleeding and, of course, cosmetic results (breast reconstruction) may differ.

What are the chances of survival for preventative measures vs treatment options?

The chances of survival for preventative measures are excellent and the risk of breast cancer is very substantially reduced. Since screening can detect cancer early, this helps improve outcomes.

Treatment for breast cancer has substantially improved over the last two decades, including for BRCA1 and BRCA2-associated cancers, so with proper treatment of early cancers, the outlook can be very good.

 

Source: http://www.sciencealert.com.au

Irradiation Heightens Risk for Breast Cancer in Women with BRCA Mutations .


Diagnostic radiation studies, especially if done before age 30, increase the risk that women who carry BRCA mutations will develop breast cancer, according to a BMJ study.

Researchers asked some 2000 carriers of BRCA1 or BRCA2 mutations to recall their history of radiation exposure. Based on standard tables, the cumulative radiation dose to the breast was calculated. Compared with no exposure before age 30, the hazard ratios for breast cancer increased with quartiles of increasing cumulative exposure, reaching 3.8 in the highest quartile.

The authors estimate that among 100 BRCA carriers at age 40, roughly 9 will have developed breast cancer. The number would increase by 5 if all had had a mammogram before age 30.

They conclude that their results support using non-ionizing radiation imaging techniques, such as MRI, as the main surveillance tool in young BRCA carriers.

Source: BMJ

DNA not patentable


In a spine-chilling announcement, the US Department of Justice in October said unmodified human DNA should not be eligible for patent. The department’s stance conflicts with the body of case law on the matter and a longstanding position held by the US Patent and Trademark Office, which has issued more than 10,000 of these patents. The Justice Department announced its position in response to a lawsuit involving patents on breast cancer genes BRCA1 and BRCA2. A US district court in March declared the patents invalid, saying that the genes are products of nature rather than human-made inventions. Patent holders University of Utah and Myriad Genetics, based in Salt Lake City, appealed in June. In an amicus brief filed with the Federal Circuit Court of Appeals the Justice Department agreed that identifying and isolating DNA without further manipulation is not an invention, or patent eligible. How the agency’s declaration will influence justices and the patent office worries biotech companies. But the patent office isn’t easily swayed, says Thomas Kowalski, an attorney with Vedder Price in New York. “The patent office is not going to change what it’s doing in view of what the Department of Justice says,” he says. Besides, international agreements between the American, European and Japanese patent offices, known as Trilateral Co-operation, have concluded that unmodified DNA is patentable.

source: nature biotechnology