Mutations in 11 genes associated with aggressive prostate cancer

A team of researchers has recently discovered that aggressive forms of prostate cancer are linked to mutations in 11 genes after studying and analyzing samples from 17,500 prostate cancer patients. Different genetic tests are helping to customize and create different treatment options to help target these mutations. Test findings are also leading to different genetic screenings, which are giving people the chance to take the needed measures to help reduce risk and be more preventative if they have these mutations present. In addition, the 11 genes that had mutations included BRCA2, which is well known for its connection to breast cancer. While this study is very informative and groundbreaking, the two limitations discussed were sample size and only testing people of European descent. Other studies can aim to get a larger sample size and a more diverse background of patients.

Each year, over 34,000 people are dying from prostate cancer. If we can find a genetic cause for this, we can better treat this form of cancer. Genetic testing can also be helpful in allowing patients to be more preventative, and maybe avoid getting this type of cancer before it is diagnosed if a mutation in any of those 11 genes is found.

https://medicalxpress.com/news/2023-09-mutations-genes-aggressive-prostate-cancer.html 

https://keck.usc.edu/largest-ever-genetic-study-of-prostate-cancer-in-men-of-african-descent-finds-new-risk-factors-for-the-disease/

P53 in breast cancer and its role in chemotherapy efficacy

The TP53 gene is one of the most common genes seen in breast cancer tumor cells which codes for the P53 protein. For years scientists have known about the frequency of P53 seen in breast cancer cells, but only recently have they begun to explore the role of mutations in this protein and how they affect the overall effectiveness of chemotherapy.

The first paper I read was written in 1998 and it studied 40 tumors; 29 of which were linked to BRCA1 and 11 of which were linked to BRCA2. The scientists examined the tumors for mutations in various genes linked to breast cancer development, one of which being the TP53 gene. One of the most staggering statistics gathered from this study was the fact that P53 mutations were seen in 80% of the tumors, affecting 83% of BRCA1-linked tumors and 73% of BRCA2-linked tumors. Mutations of P53 most commonly resulted in the upregulation of the protein which was most likely the result of a change in the cell cycle checkpoints. The paper concluded that even though P53 may not be mutated in every case, different components of the P53-dependent cell cycle could have been altered which may have a direct effect on the tumors.

The second paper I read was written by French scientists in 2013, and the study was prompted because the scientists realized that even though previous findings showed an obvious central role of P53 in cancer, the status of TP53 has never been studied as a way to manage breast cancer. Mutations of the TP53 gene are the most common across all breast cancer sub-types, seen in 30% of tumors. In breast cancer patients, tumors are determined to be ER(+) or ER(-), meaning they are either receptive (+) or nonreceptive (-) to estrogen. The paper suggested that having a tumor that is ER(-) with TP53 mutations is the best case scenario for patients, because the accumulation of genetic mutations and abnormalities in these tumors lead to a better response to chemotherapy compared to ER(+) TP53 wild type tumors.

After reading these two articles, it is clear that there is much more research needed in this field for any hope of finding a way to completely eliminate these tumors. The largest challenge when treating breast cancers is the fact that there are so many types of tumors which can range in their response to chemotherapy. I believe these studies are huge leaps forward for the field of oncology, but more studies need to be conducted on P53 as well as any other genes thought to play a role in any stage of tumorigenesis. I think for now studies should focus on P53 due to its widespread activity in breast cancer because it may hold the secrets to the main pathways that allow for tumor growth. If we can find even one pathway responsible for tumor growth, we may be able to break the pathway and cure cancers that were difficult to near impossible to treat before.

Links to articles:

Molecular genetic characterization of BRCA1- and BRCA2-linked hereditary ovarian cancers:
https://cancerres.aacrjournals.org/content/canres/58/15/3193.full.pdf

p53 in breast cancer subtypes and new insights into response to chemotherapy:
https://reader.elsevier.com/reader/sd/pii/S0960977613001409?token=928B8AEBFB15502B20406BA94D56BD2D5DFDEB8F1AE42F99BBCC1C8D495CC458BC5BB9A7324D713715B1B69FE7332585

New Drug That May Help Slow Down Prostate Cancer?

Recently, researchers tested the drug, called “olaparib,” in a clinical trial with whom are men with prostate cancer. People with prostate cancer tend to have a mutation in one of several genes that are involved in BRCA1 and BRCA2. Both these genes are considered damaged DNA genes. These genes in prostate cancer are also similarly shown in other cancers like breast and ovarian cancer. Since these genes from prostate cancer are similar to other cancers, researchers use the drug Olaparib that is is used to treat breast and ovarian cancer to test it out. Olaparib is a PARP inhibitor. This drug blocks the PARP enzyme that repairs broken DNA. It acts against cancer. The clinical trials involved with 400 men with prostate cancer show that tumors did shrink by 2.3% compared to those men with prostate cancer that use standard therapy. After one year of testing and using olaparib, about 22% show no signs of processing cancer, while on the other hand, those that use standard treatment show 13.5 %. Olaparib drugs are currently being tested and are not FDA approved for prostate cancer use yet.














This is a notable finding of how drugs that there is hope for men with prostate cancer that there is treatment in the future that can help them with their health. This article was fascinating to read because I noticed that the FDA only approves olaparib drugs for breast and ovarian cancers, and not prostate cancer. Then I thought about how the drugs might be involved with hormones. The reason I thought about this is that breast and ovarian cancers are female, and prostate cancer is for men.





https://www.sciencenews.org/article/prostate-cancer-drug-olaparib-slow-spread

https://www.kmov.com/experimental-prostate-cancer-therapy-delays-disease-in-landmark-trial/article_b32c4ecc-9670-5da5-8f7d-e1785f6f4a3f.html

The True Origin of Ovarian Cancer

New evidence is suggesting that ovarian cancer does not originate in the ovaries, but rather the Fallopian tubes. Douglas Levine, the Director of Gynecologic Oncology at Perlmutter Cancer Center at NYU Langone Health in New York City along with colleagues took cells from the Fallopian tubes, ovaries, and lining of the inside of the abdomen of healthy women and compared the cells to the precursor lesions and tumors of 96 women with high-grade serous cases of ovarian cancer to
see which healthy cells the cancerous cells were genetically more similar to. They found that in almost every case, the cancerous cells were genetically similar to the cells from the Fallopian tube, suggesting that ovarian cancer is actually Fallopian tube cancer.

About 15-20% of Ovarian cancer is inherited and women that test positive for a mutation in the BRCA1 and BRCA2 gene have increased risk of developing ovarian cancer. And because there is no way to screen for ovarian cancer, it is recommended for women to receive preventative surgery  between the ages of 35 and 40, by removing the Fallopian tubes. However this removal causes premature menopause, and for many, a decrease in their quality of life.

A second study by Victor Velculescu, Professor of Oncology and Co-director of Cancer Biology at Johns Hopkins University School of Medicine, and colleagues examined small lesions in the Fallopian tubes, Fallopian tube tumors, ovarian cancers, and metastases of women with high-grade serous ovarian cancer and sequenced the genomes of the tumors to identify which order the lesions appeared and found that there was a gab of seven years between the development of the lesions and ovarian cancer, and then quickly spread after a year. Using this information, doctors could possibly find these lesions early and stop them before they spread.

I think it is interesting that a common, but dangerous cancer may have been incorrectly named and had been for many years by believing it originates in the ovaries rather than being able to notice early enough to see that it is spread to the ovaries from the Fallopian tubes. By paying more attention to any lesions developing, it could be possible to prevent the cancer from spreading  if found early enough and with preventative surgery, the possibility of only needing to remove the Fallopian tubes without the ovaries. I am interested to see how this information can be used with other types of ovarian cancer.

Article: Ovarian Cancer Doesn’t Begin in the Ovaries, Researchers Say
Related Study: The Origin and Pathogenesis of Epithelial Ovarian Cancer- a Proposed Unifying Theory

First Home Testing Kit for Breast Cancer Mutations

The FDA has granted a genetic testing company the rights to distribute an at-home saliva test in order to determine one’s risk for three breast cancer gene mutations. 23andMe now offers these screenings as part of their Health and Ancestry product listed at $199. These saliva samples also provide individuals with ancestral history on their country of origin, as well as the genetic health risks that are involved in said areas. The test takes approximately two weeks to be analyzed and have a return of the results. Women are at an extremely higher risk of developing breast and ovarian cancer if they test positive for one of the BRCA1 and BRCA2 gene mutations. Men are also at a higher risk if they possess one of these genes, however it is much more uncommon for men to develop breast cancer (however not impossible). These mutations however, may lead to a higher risk of prostate cancer in men. Clients need to be aware; because if the at-home test states that you are negative for the gene mutations, it does NOT mean that you can’t get breast/ovarian cancer, since there are over 1,000 mutations associated with the BRCA gene. The Ashkenazi Jews (a derivative of Judaism of central Europe) are more likely to test positive for all three gene mutations than any other ethnical group. Donald St. Pierre of the FDA states that, “The test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of direct-to-consumer genetic tests…this test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that increase or decrease cancer risk”.

23andMe had originally reported these gene mutations back in 2010 without being approved by the FDA, however the FDA has issued them a warning in 2013. This caused the company to stop providing all health data until the FDA had reproducible results, and was proven statistically significant. A warning label is also not made mandatory on all test kits, stating that negative results do not rule out other genetic mutations associated with cancer risks, tests should not be used to determine medical treatment, tests should not be a substitute for a doctor’s visit, and that positive test results must be reviewed with their doctor in order to determine proper medical treatment. Ann Wojcicki the CEO of 23andMe, said that this product was made available due to high public demand.

This article was interesting to say the least.  It is nice for people with a background history of breast cancer to may find a a little piece of mind if they are positive or negative for these gene mutations, however I do not know about the quality of these tests.  $199 seems a little to good to be true to me, and since it is a newer product, I am not sure if I would trust the results or not.  I would personally stick to testing done through a licensed physician, or through a specialist with a more reputable product.

(Link to article)
(Related Article)

Are Ashkenazi Jews at a Greater Risk for Breast Cancer?

The BRCA1 and BRCA2 mutations are genetic mutations that greatly increase a woman's risk in developing breast and/or ovarian cancer. A misconception about these mutations is that they will cause a person to develop breast or ovarian cancer, however this is not the case. They greatly increase the risk of developing it, but do not garuntee that a person will develop it. According to the CDC, the BRCA mutation is very common in Ashkenazi Jewish women with about 1 in 40 testing positive for it. In non-Ashkenazi people, the BRCA mutations are found in 1 in 800 people. The reason rates appear to be higher in Ashkenazi Jews is because they are all decendants from a group of 350 people about 25-32 generations ago. They call this group a "bottleneck" that passed on their mutations to every succeeding generation. This mutations include BRCA1, BRCA2, and Tay-Sachs disease among others. Since about 75-90% of all Jews in America are Ashkenazi, it is recommended that they all received genetic testing to find out of they have these mutations and if genetic counseling is necessary.

http://health.usnews.com/health-care/patient-advice/articles/2017-04-25/what-makes-ashkenazi-jews-more-susceptible-to-breast-cancer

http://www.nejm.org/doi/full/10.1056/nejm199705153362001#t=article

A Closer View of Breast Cancer

Recently new research has been done on the sequencing of the breast cancer genome. This research is said to have given scientists the clearest picture to date of breast cancer and what factors influence tumor development. Research was done by an international team led by the Wellcome Trust Sanger Institute in the UK. 560 breast cancer genomes were analyzed in this study, 556 from women and 4 from men, and patients were sourced from countries around the world. While analyzing the genomes researchers were looking for patterns in DNA mutations, these mutations could be due to environmental factors, or simply just the aging process. 13 mutational signatures were found in common in all genomes. These 13 factors influence tumor development which give rise to 93 protein coding cancer genes that act as instructions to turn normal tissue its cancerous tissue. Knowing that these genes exist is a crucial step in cancer treatments. Pharmaceutical companies and biotech companies can use this information to begin to developing drugs tailored to affect these 93 proteins coding genes.
During research scientists also found that women who presented with BRCA1 or BRCA2 genes had highly distinctive genomes. Scientists believe the uniqueness of these genomes can help develop newer methods for patient treatment classification, depending on the patients presented risk.
This new information can open more doors for researchers working to battle against cancer. All of the identified cancer causing factors can be targeted by treatments or drugs to halt the progression of tumor growth. The genome information can also allow for a more personal care to cancer, treatments can be targeted to the mutation one individual possess. Making cancer treatments much more effective in the long run.
This research is a great step for battling an awful condition. Personalized cancer treatment, I think, can be greatly beneficial if specific cancer genes an individual possess can be targeted. Hopefully with new information such as this we will begin to see a drastic drop in fatalities due to breast cancer, and maybe other cancers as well.

Genetic testing for Ovarian Cancer

 A research study at the University of Washington had discovered women with a mutation in certain "DNA repair" genes may benefit in the aspect of cancer cells replicating quickly. It is also said women with this mutation may also survive longer and stay cancer-free for a longer period compared to women without the mutation.

There is a clinical trial to test how women with a mutation in DNA repair gene might react to combination drug therapy. The study did not show how patients responded but did affect patient outcomes. The researchers sequenced DNA from blood or tumors from 1,200 women using a gene panel test called BROCA-HR. The results were: 26 percent of women had a mutation in DNA repair gene. Women without mutation were just over a year for progression-free survival, overall survival was about 3.5 year.

Having the mutation in BRCA1 gene resulted in 15.7 months of progression-free survival and overall survival was 55.3 months. Women who had a mutation in the BRCA2, survival period was 22 months progression-free and overall more than 75 months.

Women can be tested for these genes and are encouraged to find out. The treatment guidelines may not be altered due to the finding but knowing the benefits  of having one of these mutations may provide optimism for those who are affected.

I would definitely like to be tested for these genes. Being a woman is enough to motivate me to get tested. This type of research can take us a long way into creating drugs that can promote mutations for those women who are at risk of developing ovarian cancer. 

New Research Could Lead Breast/Ovarian Cancer Preventions Away From Surgery

   Two studies have shown the effects of mutations in genes that can result in high risk of breast and ovarian cancer. The genes BRCA1 and BRCA 2 are the mutations that serves for breast cancer and ovarian cancer. To date, women with these genes can opt for surgery such as a double mastectomy or have their ovaries and fallopian tubes removed, many disagree with the surgery option as it is not an ideal solution.
   Prof. Martin Widschwendter, an author of one of the two studies, says they would like to prevent breast cancer and are looking for ways to step forward with research rather than opting for the surgery to prevent cancer.
    Tee ovaries and pituitary gland can also be affected by mutations in the BRCA1 and BRCA 2 with hormones like progesterone. Hormones like progesterone can control the menstrual cycle to encourage the development of these cancers. In the first study, Prof. Widschwendter learned that women with the BRCA 1 or BRCA 2 genes that are mutated have very low osteoprotegerin in their blood, which is known to block the effects of RANKL, a protein triggers breast cancer. Researchers think that a drug that could mirror the effect of OPG, or lessen the effect of progesterone could be a solution to the reduction of breast cancer risk.
  In the second study, Prof. Louis Dubeau and colleagues created a mouse model to simplify the examination of the menstrual cycle on breast and ovarian cancer risk. Prof. Dubeau explained the goal of preventing breast and ovarian cancer in women with BRCA 1 and BRCA 2 mutations via the mouse model.
 The model consisted of mice that carried the mutations like those affecting the BRCA1 gene in humans. They mutations were made to occur in tissues, ovaries, and pituitary glands, where there would be an increased cancer.  This allows the researches to see the mutations effects on the menstrual cycle and the high risk tissue areas as independent variables.
  As a result, the researches came to the conclusion that some forms of ovarian cancer does originate in the tissues outside of the ovaries and fallopian tubes, further proving that removal surgery is no guarantee of cancer prevention.
 For the future, both research teams hope to see improvement in prevention plans and possibly eliminate surgery as an option.
  I think this is a good break through for cancer prevention studies. Surgery is no guarantee and the more we know about cancer formation, the more we can try to prevent it.

For the full article click here.
For more information on breast and ovarian cancer click here.

Experts Back Actress in Choices for Cancer Prevention

           Angelina Jolie Pitt, an actress and filmmaker, made the decision to undergo a surgical procedure called laparoscopic bilateral salpingo-oophorectomy, which removes the ovaries and fallopian tubes. Jolie carried the genetic mutation, BRCA1, which dramatically increases the risk of ovarian cancer. Ovarian cancer is typically detectable during its final and untreatable stages. 40 is the recommended age to have oophorectomy surgery for those with BRCA1 and BRCA2 mutations. It is better to remove them early since there is no accurate method to test for ovarian cancer when affect. When detectable, it is too late, and the affected patient dies. The cancer scare pushed Jolie to be proactive about her decision since her mother, aunt, and grandmother died of cancer. Previously, Jolie removed both her breasts because BRCA1 also increases breast cancer risk. Generally, doctors recommend that breast surgery take place after oophorectomy surgery since breast cancer is detectable and treatable at early stages. The negative side effects to oophorectomy surgery are early menopause and inability to conceive. Therefore, oophorectomy surgery is ideal for women after they have had the desired number of children and before the cancer risk spikes.

            Testing for CA-125 protein monitors ovarian cancer possibilities; however, this test has been halted by some doctors since it is ineffective at detection and does not improve one’s chance at survival. There are also no evidence that BRCA mutation causes uterine cancer risk, so Jolie has decided not to remove her uterus. Jolie empathizes for those affected who want to get pregnant, and says that they might have the option to only remove the fallopian tubes. There is little evidence that fallopian tube removal is as effective towards ovarian cancer prevention. I think it is very inspirational that Jolie shared her decision with other women. She is a strong advocator that knowledge is power because while doctors give options based on diagnosis, they cannot make decisions for you. If affected women can relate to a strong icon like Angelina Jolie, it will help them take action to make an informed decision. Signs of ovarian cancer may be similar to other non-life threatening medical issues, so it is important to take any signs of precaution if at risk when possible. 

            

Original: Link1

Supplement: Link2

            

Iceland Genome Sequencing Leads to Clues About Disease-Causing Genes

Blood samples that were used for genetics research.

     Scientists in Iceland have been able to produce a snapshot of a nation's genetic makeup. This has helped in discovering multitude of previously unknown genetic mutations. Some of these mutations play a role in ailments such as Alzheimer's Disease, heart problems, and gallstones. With this data, Iceland possesses a larger proportion of genetic data of their population than anywhere else. A genetics firm owned by Amgen said that the complete DNA sequencing of over two-thousand Icelanders was collected. With this much genetic information at their disposal, the scientists were able to infer the genomes of over 100,000 residents. Many diseases, such as breast cancer, are caused by mutations to a multitude of genes. For example, the scientists found that eight people shared a mutation for the MYL4 gene. This causes them to have a type of irregular heartbeat. Another mutation discovered influenced the level of a hormone that stimulates the thyroid gland. Inheritance patterns were also prevalent in the data. These scientists also discovered that nearly eight percent of Islanders lack a working version of a particular gene. The researchers were able to ascertain the genomes of people not examined via a technique called imputation. Amgen is now investigating a gene they found that has a strong correlation to cardiovascular disease.

     This research is incredible in helping fight off many diseases. Discovering the mutations can inform us more about the disease and point scientists to some possible treatments. However, a inority of people are afflicted by specific diseases. This means a large number of people must be studied, which is exactly what scientists at Amgen have done. This data does not only point to the gene that causes a health problem, but also its specific mutation. More insights from the DNA of Icelanders are sure to come. 

Link1: http://ow.ly/M5UA0
Link2: http://ow.ly/M5UEo

Myriad Breast Cancer Gene Lawsuit

Myriad Genetics is a molecular diagnostic company that focuses mainly on the developing and marketing of predictive medicines, personalized medicine, and prognostic medicine tests. The Myriad Genetic Company uses the information they collect from their testing to help guide individuals toward which drug therapy they would respond best to. They help regulate the dosages of medicine to ensure optimal treatment and assess the likelihood of an individual to develop a disease, its progression, and its re-occurrence.

The Myriad Genetics Company has finally ended its patentdispute on breast cancer risk testing. Myriad Genetics Company was testing for mutations on two genes, BRCA1 and BRCA2. The mutation of these genes have been linked to an increase risk of breast cancer and ovarian cancer. This testing caused the competitor companies to start making their own versions of the test only they made them cheaper. Myriads sued those companies and claimed that the competition was infringing on their patents.

Unfortunately, when brought to Judge Robert J. Shelby, he ruled against Myriads request. Later, the Federal Circuit agreed with the decision and ruled that human genes cannot be patented. The Myriad Company had to settle in court against the competitors, LabCorp, Invitae and Pathway Genomics, Ambry, GeneDx and Counsyl, and Quest Diagnostics. The agreement was that Myriad would not sue the other companies for the patent of the test on BRCA1 and BRCA2, as long of the other companies dropped their counter-suits against Myriad.

I think this test is needed especially in times like these where cancer is prevalent and can happen in a blink of an eye. As someone who has a family history of breast cancer, I think it would be beneficial to have a test that can determine the chance of me or any family member developing cancer. For the court to deny (rule against) Myriad’s claim, was an unfair decision.  They created the testing first and the competitors took their idea and made it cheaper, so they could get more patients and in turn more money.

Ovarian cancer risk genes identified

Ovarian cancer is any cancerous growth that could occur in different parts of the ovary. The major form of ovarian cancer arises from the epithelium which is the outer lining of the ovary. It is the eighth most common cancer among women in the United States.

A team of international scientists have identified six genes that increase a woman’s chances of developing ovarian cancer. This discovery could help researchers find new ways to treat and possibly prevent the disease. This form of cancer has been referred to as a silent killer because most of the time it isn’t detected until it is at an advanced stage. 

According to the article, a woman’s lifetime risk of developing breast or ovarian cancer is greatly increased if she inherits a harmful mutation in the BRCA1 or BRCA2 genes. But the six new variants identified by the researchers have a subtle impact than the BRCA1 and BRCA2 mutations. Each of the newly discovered variants increases the risk of cancer by a very small amount. 

I believe that this is a big discovery in the medical field. According to The American Cancer Society an estimated 21,290 women will receive a new diagnosis of ovarian cancer this year and about 14,180 women will eventually die from it. I think that the research completed by these scientists will help us diagnose this disease in the earlier stages in the near future before it spreads out to its final stage.

Genes Found That Detect Breast Cancer Risk

There are many genes that are involved in cancer. Researchers in a paper published in the journal Cancer Epidemiology, Biomarkers & Prevention argue, “Combining the known genetic players in breast cancer can predict with much higher accuracy a newborn girl’s theoretical risk of developing the disease.”

Alice Whittemore, a professor at Stanford University School of Medicine, and her colleagues found 86 genetic variants that have been linked to break cancer. These rare genetic variants include BRCA1 and BRCA2 are proved to be a very high risk of disease. The genetics variants were used to predict breast cancer based on womens’ genetic makeup. Researchers found that genetic variants could account for about 35 percent of future cancer cases.

Whittemore stated, “We took 86 known genetic variants associated with breast cancer, and took what was in the world’s literature about how common those variant are, and by how much a factor they increase risk.” Several new genetic variants have been contributing in developing breast cancer.

Women that have been born with a high genetic risk for breast cancer still can change their risk. It has shown that lifestyle factors are linked to lowering genetic risk. The higher genetic risk, the more it can be reduce with healthy lifestyle choices.

Article: http://time.com/3534200/heres-how-well-your-genes-can-predict-your-breast-cancer-risk/

Three Sisters Choose Preventative Care after Genetic Testing Results

     Three sisters, Patti Broccoli, Cathy Balsamo and Cindy Lepore decided to go for genetic testing after Cathy saw an advertisement in her doctor's office. After giving a detailed family history, the sisters were informed that they would be good candidates to be tested for the BRCA 1 and BRCA 2 gene mutations. The results showed that all three of them had the BRCA 1 gene mutation, meaning that their chances of developing breast and/or ovarian cancer in their lifetime was as high as 90%. With this new found information, they decided to all get double mastectomies and had their ovaries removed as well. This drastic measure is one that the women felt that they needed to make in order to ensure their survival. Nowadays, more and more women are opting for the preventative care of double mastectomies and oophorecomies.

Patti Broccoli, Cathy Balsamo, and Cindy Lepore

     As someone who has a high prevalence of breast cancer within my family, I can understand the fear of getting the disease one day. Personally, I am planning on getting genetic testing done in the near future to see exactly how high my risk is. If it comes up that I have the BRCA 1 or BRCA 2 gene mutation, preventative care is certainly an option that I will be looking into. I simply hope that advancements in medicine will help so that such drastic measures won't need to be taken by women who have the mutations. 

Link to article: http://www.nj.com/news/index.ssf/2014/04/genetic_test_results_led_three_berkeley_heights_sisters_to_opt_for_surgery.html

Link to related article: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

Supreme Court Verdict on Patenting Human Genes

              With more advances and discovers being made in science everyday, researchers look to protect their hard work through patents. While patenting has been around for quite some time, new ideas in science are causing lawmakers to question the guidelines of patent laws. Specifically when it comes to genetics, the Supreme Court was recently faced with the difficult decision of deciding what can be and what cannot be patented. In a decision of 0-9 they have decided what companies can patent and call their own and what is natural and cannot be patented. Full strands of DNA which include coding and non coding sequences cannot be patented however cDNA which include just short coding sequences can be patented. An exception to this is short sequences that are indistinguishable from human DNA. Those cannot be patented. This ruling is justifiable with saying that anything that is not naturally found in humans such as these “abridged sequenced” cDNA strands can be patented.

This recent court case was stemmed from the fight over the patent for mutant BRCA1 and BRCA2 genes also known as the breast cancer genes. Myriad, the research company that identified that these mutant genes led to the development of breast cancer then patented them. They owned the rights to test women for these genes and determine their risk of breast cancer. In response others in the cancer community fought back saying that this patent inhibits their research and drives up the cost of breast cancer testing. Shortly after these genes were patented 20% of the human genome was also patented by various others. The court ruled that 5 of their patents were DNA while the other 500 were cDNA. This court ruling plays a critical role in where science is headed and how researchers conduct their work. They will need to shift their studies to follow the guidelines of this ruling or risk not receiving a patent on their research.  

    

                                          Breast cancer genes BRAC1 and BRCA2

Link:

http://www.dailytech.com/Supreme+Court+Gives+Mixed+Verdict+on+Patenting+Human+Genes/article31760.htm

Related link:

http://www.huffingtonpost.com/2013/06/13/supreme-court-dna-ruling_n_3435274.html

Patents Prove to be More Dangerous than Useful

There have been debates recently over whether or not gene patents could be helping or harming the medical industry. Duke Institute for Genome Sciences & Policy conducted a study which analyzed multiple cases in which gene patents were not useful. A main example of this was the recent discovery and patent of the gene BRCA1 and BRCA2 by University of Utah who licensed the genes to Myriad Genetics. This gene is especially prevalent in breast cancer patients, and the study of it could lead to more knowledge about this sort of cancer. However, instead of releasing the information about the gene, a patent was placed on it so that Myriad could make money through their information gathered from this gene. This specific case was challenged in court and the federal judge ruled against the patenting of genes because they are not manmade, but rather a product of nature. Many major genetic corporations combat this idea through arguing the vigorous amount of work that is placed into translating the DNA and altering it so that it may be understood by researchers.

There is without a doubt a major business to be made of the millions of genes that are both known and unknown. Each gene that is discovered can bring more knowledge to the field of genetics as well as the entire medical community. As more genes are discovered, more diseases are able to be understood. However, if the genes are being hidden in order to make a business out of human illness, these breakthroughs will not be able to occur. In the end, it becomes a question of whether the researcher is studying the gene to better mankind, or to better the size of his or her paycheck. 

http://cenblog.org/the-haystack/2010/04/duke-study-says-gene-patents-harm-innovation/

Patenting Human Genes?

Are human genes patentable?  That is the big question that the United States Supreme Court is faced with answering.  According to Science Daily, oral arguments are beginning today on just that exact subject.  The court case is known as Association for Molecular Pathology v. Myriad. 

Back in the early '90s, Myriad Genetics made important scientific discoveries regarding two genes.  These discoveries were related to mutations found in genes BRCA 1 and BRCA 2.  These genes act as biomarkers for an increased risk of breast cancer and ovarian cancer.  Because the DNA molecules that embodied these sequences were "isolated," Myraid sought and obtained a patent over them.  Now, the validity of that patent being issued in the first place is in question.

The "Products of Nature" doctrine prevents the patenting of newly made products that do not display a "marked difference" from naturally occurring products.  The argument being issued is that because these DNA sequences were isolated, they are able to be patented and the current patents are in fact, valid.  However, it has been demonstrated many times throughout history that life cannot be patented or owned by any single individual or corporation and what are genes if not the basis of life?

Because the Supreme Court has not to date clearly offered a framework for identifying products of nature, it is difficult to predict the ruling in this case.  However, one can only imagine what the consequences could be if people become able to patent human genes.  The entire field of genetics could be decimated with the slam of a gavel.

Familial breast cancer not indicator anymore

A new study disproves the old notion that having women in your family with breast cancer exponentially increases your risk, period.  If the woman in question did not inherit either the "BRCA1" gene or the "BRCA2" gene from her parents(which both largely increase a woman's risk for breast cancer), then she is not at a greater risk for breast cancer just because some of her first relatives have it. This contradicts a previous study back in 2007 which said that women who did not inherit the BRCA genes were 2-5 times more likely to develop breast cancer if first-relatives in their families did develop the cancer. This is great news for women today who used to think they were at risk for a potentially life threatening disease. Now this does not guarantee that these women will never develop breast cancer, there are other risks like environmental sources of radiation and other genes that lead to greater risk for breast cancer or other cancers. To help rule out these possibilities, genetic screenings can illuminate any other high cancer risk genes and regular mammograms for older women can catch early formations of breast cancer. Ultimately, this a just great news for women everywhere.

http://healthland.time.com/2011/11/01/study-no-risk-for-women-with-breast-cancer-genes-in-the-family/ (article link)

http://students.cis.uab.edu/ijgeerts/breast%20cancer%20ribbon.jpg (image link)