Aggressive Breast Cancer In Younger Women

Younger women with breast cancer always seem to (my tiny non-medical mind) be either very late stage and/or aggressive and require more aggressive treatment. And some new research may explain why.

"Researchers at the University of Southampton in the United Kingdom found that women aged 15–39 who had early-onset breast cancer possessed specific gene variations that were associated with increased disease progression.

Lead study author Dr. William Tapper — from the Faculty of Medicine at the University of Southampton — and team say that their results not only shed light on why younger women with breast cancer have lower survival rates, but they could also offer new treatment targets for the disease."
This news seems to be leading to a real breakthrough. I have always found it interesting that young women were diagnosed with late stage breast cancer and required aggressive treatment. Yes you can argue that under 40 they are unlikely to receive regular mammograms so their disease was more likely to be caught at a later stage. But it seems to happen too frequently to be chance.

Now a gene variation has been found that could be the root of this.

"Among younger women diagnosed with early-onset breast cancer, it was found that two single nucleotide polymorphisms (SNPs) in the ADAMTSL1 gene were associated with greater risk of disease progression.

SNPs are variations in a DNA sequence that can affect how a gene functions, and this plays a role in disease.

The researchers say that this finding "suggests that unique disease mechanisms may influence survival in younger women and provide some biological insight into why younger-onset breast cancer has a worse prognosis."

What is more, Dr. Tapper and team say that the results could pave the way to new diagnostic and treatment strategies for young women diagnosed with early-onset breast cancer.

"Our findings increase our understanding of the genes and pathways that are involved in breast cancer prognosis, and may provide new targets for the development of novel therapies." - Dr. William Tapper

"In the short- to medium-term," continues Dr. Tapper, "this genetic factor may be used to improve prognostic models."

"In the long-term," he adds, "when more is known about the mechanism underlying this association and its relationship with treatment response, it may have an influence on approaches to the most effective breast cancer treatments."

So this is a real breakthrough. It could explain why some younger women have a more aggressive cancer, lead to better treatment for those with this variation, and lead to real changes in the future for all women with breast cancer.

Its not luck if its cancer

I saw an article yesterday that annoys me to no end. Apparently bad luck is the cause of most cases of cancer. Barbara over at Let Life Happen also blogged about it. Its not luck if its cancer.

This new study looked at many types of cancer but not all and found that its just plain bad luck that accounts for many of these cancers and not environment or behavior or anything else. Its a crap shoot of gene mutations.  Granted smoking can cause lung cancer and sun exposure/tanning beds can cause melanoma.

Thank you for allowing me to be the beneficiary of so much back luck. I am overjoyed. I am so elated I can't stand it.

But on the upside, this does help answer the 'why me' question of every cancer patient. I think there was a line in '50/50' where when diagnosed  he asks 'Why me? I recycle!'.

So I am going to take the upside of this issue. Instead of bad luck, we can now call it an 'unfortunate series of gene mutations' which is what it really is.

Going back to what is known about the BRCA genes and the fact that they account for only 5-10% of all breast cancer cases. The rest are mostly caused by an 'unfortunate series of gene mutations'.

When I was diagnosed with breast cancer, my oncologist suggested I get tested for a specific gene mutation which I didn't have. I did find out that gene mutations can happen to a single person, they don't have to be inherited. You can just get them. I was told while I didn't have the mutation that they tested for, I probably did have another mutation that was similar but had no test yet available.

I can live with that as opposed to luck. Because its not luck if its cancer.

This is going in the wrong direction

Australia's Federal Court has allowed companies to patent genes. This is contrary to what recently happened in the US Supreme Court. Why? I say, why? What were they thinking?

The only piece of logic I can find here is this:

"Director of Advocacy at Cancer Council Australia, Paul Grogan, said that, if the ruling was an interpretation of the law, then the law needed to change.

"In 2008, Australian women were only protected from an attempted commercial monopoly over the BRCA1 and BRCA2 tests because the company that threatened to take those tests away from public laboratories withdrew its patent claims voluntarily," he said.

"There was nothing in the law to protect healthcare consumers ... and there still isn't.

He said Australia might now end up finding US companies enforcing patents here that they could not enforce in their home country after a Supreme Court ruling there that overturned the gene patents."

It is also expected to bring companies to Australia where they can patent human genes.

I agree it may be time to change the laws.

Pain tolerance

Or am I a whiner? Recently I have taken both my parents to doctor appointments. I have actually not just driven them but actually talked to their doctors with them and about them. I have now know their blood pressure and all that and heard them answer the questions are you safe at home (yes) and what is your pain level today.

I have learned that my father doesn't have pain which makes sense because he has pneumonia. My mother has pain which has been a 6 since her vertebroplasty to fix a crushed vertebra, before then it was an 8 or 9. She also has rheumatoid arthritis and a bad back - with three other previously crushed vetebrae. This is the part that makes me think.

I also have rheumatoid, fibromyalgia, degenerating disks in my back, and lymphedema in my arm which sometimes likes to act up. When I go to the doctor, I say my pain level is usually around a 4, on a good day, it might even be a 2. Sometimes its a 6 or 7, and occasionally flares higher.

I know its just a number but am a whiner? I have more heavy duty pain drugs than my mother. Do I have them because I said my pain numbers were higher because I am a wimp?

When they ask you the question at the doctors office it is completely subjective. And my pain is fickle. Sometimes its there, and then its gone. Sometimes I feel fine and then I sit in a bad chair in the waiting room and I can barely move when I try to stand.

I recently read an article on WebMD on pain tolerance. "Pain tolerance is influenced by people's emotions, bodies, and lifestyles... Biological factors -- including genetics, injuries such as spinal cord damage, and chronic diseases such as diabetes that cause nerve damage -- also shape how we interpret pain...."

I know I need to lose weight which will help with pain tolerance and the pain itself. But the two people who contributed to my genetics seem to have a better handle on pain itself. Maybe they just gave me the wimpy genes.

Victory in the Supreme Court

I have always wondered how Myriad Genetics was able to patent the two BRCA genes. I always thought it was a little funny because they are essentially a body part. Now the Supreme Court has agreed (9-0) that genes cannot be patented as they are naturally occurring.

Its about time.

Patents are awarded for inventions and new ways of making things. So I never understood how Myriad Genetics could own the genes. They had the market cornered on the BRCA tests and charging $3300 for the test. Even though most insurance companies pay for it, this overcharge is just another way that insurance costs are paying for vastly inflated prices.

This will also impact the biotech industry as they develop new gene sequencing techniques and it should open up genomics as researchers don't have to worry about infringing on another's patented gene.

This has been a long awaited decision that received very little press. It did make the front page of the newspaper in biotech happy Boston but I couldn't find it on CNN.

I call this progress and can actually agree with the Supreme Court on this decision.

Would you want to know?

I have blogged about this before. If you could do a genetic test to find out if you are likely to get an ailment and die of it, would you want to know?

I am still up in the air on this one. I was interested to read about a 21 year old woman who has the BRCA 1 gene, watched her mother die of cancer, but has decided she doesn't want to know. Her choice is to live an  unstressed like without the burden of the knowledge that she could die of cancer and what it would be like.

I can completely understand that point of view. Just because we can learn about our medical and genetic make up, do we have to learn it? I mean is there a benefit to living in ignorance and letting life happen around us with out having to learn what might or might not happen to us?

Why are we supposed to learn to see what the future brings? I have never been to a palm reading or a fortune teller or anything. I haven't really wanted to. Isn't it better to have life unfold as it may than to plan and learn and change ourselves to compensate for what we learn?

Hindsight in light is always 20/20 - we always look back and think back how we could have done better or differently or improved the outcome. But is it really to our benefit to think how we might have done things differently? Then we spend too much time ruing our decisions.

This would complicate my life immensely. If I knew then I would have too much time to over plan my life which would cause me to spend time ruing my decisions and over thinking everything.

I don't want to know.

Breast cancer is even more complicated than previously thought

And this is supposed to be good news? Personally I always look for the easy way out as my inherent laziness takes over. But this is supposed to be progress.

There was a study in  England (because we needed yet another study)of the protein coding in 100 breast cancer tumors. The result showed how complex breast cancer really is.

The authors wrote in the online edition of Nature “A sobering perspective on the complexity and diversity of the disease is emerging,” ... which is publishing a series of studies of the genetic changes in breast cancer.

The scientists ... found 73 different combinations of disease-causing mutations in the tumors, each involving up to six different genes from a set of 40 “driver genes.” 

Seven of the 40 individual driver genes were mutated in more than 10% of cases, but 33 others that were less common also contributed to the development of the cancers, the team reported.  In 28 cases, a single mutation was enough to cause disease. 

The researchers identified nine new genes that caused the cancers, and also found mutations in genes that were already known to cause breast and other cancers.

Discovering that a single disease — breast cancer — can appear in so many different guises means that developing targeted therapies tailored to a patient’s tumor type will remain a tall order in the near future.

After I read this about six times, it dawned on my tiny chemo brain that:

- they discovered nine new genes that cause breast cancer
- there are driver genes which are the real 'bad guys'

And this is progress? Well I guess if they find the genes that's a good start but its sort of like getting through a locked door and finding nine more locked doors behind them which you need to get through. The good news is you go through the first door. The bad news is there are nine more. And you have no idea what's behind them.