BRCA Wars Underday; Senator Wants NIH Action

The price of BRCA testing — and thus its potential accessibility to a wide range of patients — took center stage during the past 2 weeks in the ongoing cancer diagnostics drama involving Myriad Genetics, the company that formerly had a monopoly on the naturally occurring BRCA genes.

First, on July 12, a US senator wrote a letter to the National Institutes of Health (NIH) that essentially sought to make sure that competition in BRCA testing flourishes and that the price of testing drops.

The goal of the letter by Sen. Patrick Leahy (D-VT) to Francis Collins, MD, PhD, director of the NIH, was to prod the federal government into taking action to "ensure access to affordable life-saving diagnostic tests for breast and ovarian cancer" according to a press statement.

Sen. Leahy urged the NIH to exercise an obscure federally mandated right to force Myriad "to license the patent on reasonable terms" to other parties because Myriad's patented products had originally been developed with federal funds. In other words, Sen. Leahy wants to optimize the number of American women who can access the test and he sees cost as a potential block to that aspiration.

The senator's letter came days after Myriad filed lawsuits against 2 companies that began offering BRCA testing at substantially lower costs. The suits allege that the competitors are infringing on specific Myriad patents that are distinct from those invalidated by the US Supreme Court in June, and that the competition is now unfairly forcing testing prices down, with the anticipated result that "Myriad will lose significant amounts of revenue."

One of the lawsuits is against Ambry Genetics (Aliso Viejo, California). A spokesperson for Ambry told Medscape Medical News that the lawsuit is without merit. "They have never had competition in their space," said Ardy Arianpour, MBA, senior vice president of business development at Ambry, about Myriad's motivations.

Myriad made its own timely announcement on July 15, also tackling the issue of BRCA testing cost and accessibility.

The company issued a press release describing its expanded financial assistance program for "qualified underinsured patients."

Although the cost of Myriad's BRCA testing is normally $4040, the company explained that, starting July 22, it will offer financial assistance to eligible patients to ensure that out-of-pocket costs are "no more than $375." Eligible patients must have private insurance, meet insurance coverage criteria for testing, and have a household income below 200% of the federal poverty level.

Myriad currently offers free testing to low-income women with no insurance, according to a press statement.

On its Web site, Myriad points out that most private insurers cover genetic testing and that the average patient pays a coinsurance of less than $100.

However, even though insurers generally pick up all or most of the tab for eligible women, the high cost is still there, said Jeffrey Rosenfeld, PhD, assistant professor of medicine at the University of Medicine and Dentistry of New Jersey in Newark. "One of the claims that Myriad had was that insurance would pay for testing," he said in an interview in June with Medscape Medical News. "The problem is that even if insurance is covering it, someone is still paying for it, and the money has to come from somewhere."

Click here to see the original article from Medscape

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What patients need to know about the Affordable Healthcare Act (ACA)

3 major areas of focus for the ACA: 

1. The ACA aims to provide ways for people without health insurance to obtain health insurance coverage.
2. The ACA provides new and expanded pathways for people to access health insurance.
3. The ACA aims to improve cost and quality for health insurance.

Main weakness of the ACA: it does not address underinsurance, or insurance plans for individuals which do not provide adequate coverage for their healthcare needs. This can be particularly difficult for individuals with chronic or genetic conditions.

Insurance Reforms in the ACA
· Insurance companies cannot deny coverage to children under 19 for preexisting conditions
· Dependents can be covered under parent's insurance until age 26
· Insurance coverage cannot be taken away regardless of cost or amount of services used (in effect since 2010)
· There is no longer a lifetime benefit cap and no annual benefit cap
· New employer-sponsored or individual plans may not charge copays or deductibles for preventative services such as genetic testing
· These reforms are beneficial to individuals with chronic or genetic conditions who may need to utilize a large amount of medical services in order to manage their condition

Summary
The ACA offers historic opportunities including:
· Increased access to universal, continuous, affordable coverage
· Increased investment in public health, primary care, and prevention

However, it doesn’t solve all of the problems in health insurance coverage, for example:
· Grandfathered plans and self-funded plans are exempt from the changes in the ACA
· Changes only apply to new insurance plans
· Long term sustainability of state and federal funding for these healthcare initiatives remains a primary concern

Online Resources:
· statereforum.org - how healthcare reform is happening in each state
· CMS.gov - Center for Consumer Information and Insurance Oversight

Source: American College of Medical Genetics and Genomics (producer). 2013. HRSA Genetic Service Collaboratives Webinar on Genetics Services and Affordable Healthcare Act [Webinar].

Compiled by:

Victoria Costello, Yale Cancer Genetic Counseling Fellow 2013

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Genetic Counselor, Ellen T. Matloff, featured on Fox News

Ellen T. Matloff shares her expertise with Fox News as they examine the increase in access and affordability of genetic testing following the recent Supreme Court ruling that banned patents on human genes.

Click on the links below to watch the clips:

"Life-saving cancer testing gets more affordable"

"Genetic testing for genes linked to cancer more available"

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The Gene Patent War: SCOTUS Decision

Original interview by BEI Young Professionals member James Muller


On Friday June 21^st, I had the pleasure of interviewing Ellen Matloff, the Director of Cancer Genetic Counseling at the Yale Cancer Center.  Matloff was a petitioner in the patent law case regarding genetic testing that came before the Supreme Court on April 15^th, 2013 (Association for Molecular Pathology, et al. v. Myriad Genetics, Inc. et al.).  This case considered the legality of Myriad Genetics, Inc. patents on the breast cancer genes BRCA 1 + 2.  BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer[i].  On June 13^th, 2013 the Supreme Court ruled in favor of the petitioners, with the holding that “naturally occurring human DNA is not patentable” (http://www.supremecourt.gov/opinions/12pdf/12-398_1b7d.pdf).  Matloff’s story regarding how she became a petitioner in this case is quite fascinating.  Throughout our conversation the circumstances leading up to this case are discussed, and some common misconceptions surrounding the legal dispute are resolved.

The responses in the interview below are in Matloff’s own words, and she has approved of this interview being published on the Bioethics International’s online forum.

I suppose the best way to begin our conversation is to first ask “how did you become a petitioner in this case?”
Well, my interest in Myriad Genetics Inc.’s (hereinafter “Myriad”) patents on BRCA 1 + 2 arose long before any legal suits against Myriad were ever filed.  Since Myriad began enforcing their patents in ~1998 and shut down all laboratories – including the one at Yale – I watched how gene patents could lead to corporate monopoly and a wide variety of problems for patients and providers. In fact, I contacted several large law firms to see if they’d be willing to take the Myriad case pro bono, but due to size of [Myriad Inc.], all of the firms willing to take the case had conflicts-of-interest (i.e. in one way or another, they were all associated with Myriad).  It was difficult for me to get others to see the problems with gene patents or to get a paper published describing the associated dangers.  A colleague suggested that I contact bioethicist Arthur Caplan to see if he’d be willing to work together on an article on patents and the ethical implications of direct-to-consumer genetic testing (a topic of shared interest). We wrote the article together, it appeared on the front cover of the American Journal of Bioethics, and it attracted the interest of many.  In 2009, when the American Civil Liberties Union (ACLU) filed a suit against Myriad Genetics, they contacted me and asked if I would like to be a petitioner in the case.


What precedent will be developed as a result of this case?  When lawyers cite “Myriad,” what will they be citing?
Not being an attorney myself, it is hard for me to say exactly what legal precedent or principle lawyers and judges will derive from this case in the future.  With that being said, I think the case’s decision underscored the importance of the Products of Nature Doctrine.  Granting patents on products of human nature can be a huge mistake, and [in this case] it was a mistake in so many directions.  I mean, this affected not only research within BRCA 1 + 2, and drug development, and protein product development, but also the costs of the test, competition in the market, advertising, etc.  It is just amazing how many things were affected by the patent and the monopoly that was created.  This company did not have to listen to the concerns of patients, clinicians or the community – and they knew it.

Under the product of nature doctrine, there can be no patents for laws of nature, physical phenomena, and abstract ideas.[ii]       

I would now like to switch gears and discuss the relevance of “cDNA” in the case.  Obviously not being a molecular biologist myself, there was a lot of scientific jargon in the oral argument revolving around the concept of cDNA that I wasn’t grasping.  Could you explain the importance of cDNA in the context of Myriad’s argument?
Well, I could go into the details of what cDNA is, but from what I’ve been told, from what our attorneys told us, the Supreme Court did not, in fact, uphold the cDNA patenting, nor did they ban it.  The court did not make a ruling either way on the cDNA patenting.  What I will say is that the cDNA issue will not impact clinical testing or research.

After reading through the oral argument, I concluded that Justices Scalia & Justice Kagan’s question of “future motives” posed the greatest challenge to the petitioner’s case.  The question they posed to Hansen (the petitioner’s counsel) was: “why would a company incur massive investment if it cannot patent?”
The Myriad patenting of BRCA 1 & 2 is significant and noteworthy due to its degree of stringency.  Myriad is the first company to ever patent a gene and enforce it this strictly; there have been patents before and patents after, but no company has done what they have done.  The point here being companies will not lose the ability to patent in the future— for example, they can patent modified genes, targeted drugs that are developed or new techniques to look at genes. The Court’s ruling is just prohibiting future patents of a particular nature, a patent directly in conflict with the product of nature doctrine.
Additionally, the incentive for many of these researchers is actually not big dollars; a profit motive is historically not the reason researchers have searched and looked for particular genes.  
I vaguely remember that when we spoke last, just days before the Court ruled on the Myriad case, you anticipated a major drop in the cost of genetic testing for breast cancer if the court ruled in favor of the petitioners, thereby ending Myriad’s patent on BRCA 1 & 2.  Can you speak of any changes you’ve noted since the decision has been rendered?

The cost of sequencing has taken a nose dive in the past 15 years, and the cost of Myriad’s BRCA testing has gone up and up. Within eight hours after the ruling, 5 companies began offering BRCA testing, and one of those companies had slashed Myriad’s price for the test in half.  Within one week of this ruling, we now have all of these companies offering BRCA testing at a fraction of the price.
When you’ve spoken in the past about direct-to-consumer genetic testing, you discussed consumers receiving test results that vary to great degrees with other companies within the same market.  You supported that fact with comparative analyses of test results from various companies (e.g. 23andMe).  With that being said, you concluded that the value of a 2^nd, or 3^rd opinion, cannot be stressed enough.  Do you think as other companies begin to do genetic testing with BRCA 1 and 2 we’ll see major discrepancies in the test results between Myriad and these other companies?

The ruling is only a week old, meaning that it is certainly too soon to determine the accuracy of Myriad’s testing by means of comparative analysis.  It is also important to note the difference between testing for mutations in known genes and creating disease risk estimates based on Single-nucleotide Polymorphisms (SNPs), as 23andMe and other companies do.  These are two very different things.  That being said, we will all need to move forward with caution in choosing clinical labs that offer not only cheaper and faster testing, but testing that is equal and/or better than Myriad’s BRCA testing in quality.
This concludes my interview with Ellen Matloff.  I would like to thank Ellen on behalf of the Bioethics International community for taking the time to answer these questions and describe the case from her own perspective.  More information about this case and genome advancements in general can be found on the National Institute of Health’s National Human Genome Research Institute’s Homepage (www.genome.gov).

Click here to see the original story from Bioethics International
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PARP Inhibitor Study for People with Advanced, BRCA-associated Breast Cancer

Men and women aged 18 years or older who have advanced (metastatic) breast cancer due to a BRCA1 or BRCA2 gene mutation may qualify for the BROCADE Study. The purpose of this medical research study is to determine the safety and effectiveness of the investigational PARP inhibitor, Veliparib, in combination with chemotherapy in patients with advanced hereditary breast cancer. Each individual will be evaluated to determine his or her eligibility. Those who qualify will receive investigational medication or placebo, study-related medical exams, and lab tests at no charge. Compensation for time and travel may also be available.

How to participate

Key eligibility criteria are:
-Age 18 or over
-Have confirmed breast cancer that has spread beyond the breast and lymph nodes
-Have a BRCA1 or BRCA2 mutation
-Have no more than one prior cancer treatment for metastatic breast cancer
-Healthy enough to be up and out of bed at least half the time
-Are not pregnant or plan to conceive a child (and agree to use adequate contraception)

For more details and to find a participating oncologist, visit the BROCADE website.

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Let’s Get the Facts Straight: a Rebuttal to Myriads Claims on Gene Patents

Common Myths and Facts About Gene Patents - Myriad Genetics, 2013
http://www.myriad.com/common-myths-about-gene-patents/

Myth #1: I heard that someone could patent my genes.

Myriad Fact: No one can patent anyone’s genes. Genes consist of DNA that is naturally occurring in a person’s body and as products of nature are not patentable. In order to unravel the mysteries of what genes do, researchers have had to separate them from the rest of the DNA by producing man-made copies of only that portion of the gene that provides instructions for making proteins (only about 2% of the total DNA in your body). These man-made copies, called “isolated DNA,” are unique chemical compositions not found in nature or the human body. The U.S. Patent and Trademark Office has been granting patents on “isolated DNA” to universities, hospitals, patient advocacy groups and companies for over 30 years. In fact, most isolated DNA patents were granted to research institutions rather than companies. These patents provide incentive for pharmaceutical, biotechnology and diagnostic companies to invest the hundreds of millions of dollars and decades of time to develop ground-breaking medicines and diagnostics that have saved and enhanced countless lives.

FACT: Prior to the Supreme Court ruling of June 13, 2013, Myriad held patents on the BRCA1 and BRCA2 genes themselves, including the genetic sequence, mutations along the genes and any method for locating mutations on the gene. These patents, like other patents, were granted for 20 years. These patents restricted other scientists from any research involving these genes and from others being able to develop or offer alternate testing.
While pharmaceutical, biotechnology and diagnostic companies do invest time and money to develop new medicines and diagnostics, more than five million dollars of federal tax money funded the discovery of the BRCA1 gene specifically. Furthermore, studies have shown that financial incentives are not needed to fuel scientific research in this area. In fact, the Human Genome Project sequenced the entire human genetic sequence and did not patent any of the genes it identified.

Myth #2: I can’t get a second opinion because of gene patents.

Myriad Fact: Since 1999, many laboratories have performed genetic testing to confirm breast cancer hereditary risk results. Today, you can get second opinion testing from the UCLA Diagnostic Molecular Pathology Laboratory, University of Pittsburgh Medical Center, University of Chicago Genetic Services Laboratory, University of California San Francisco Molecular Diagnostic Laboratory, Fox Chase Cancer Center, and University of North Carolina Hospitals.

FACT: While the presence of a mutation in a BRCA gene or a “positive” test result, could be confirmed by other laboratories, there was no alternative test to confirm a negative test (and the vast majority of patients test negative, meaning no mutations are found in BRCA1 or BRCA2). In fact, for years Myriad provided many patients with “negative” results on their ‘Comprehensive’ BRACAnalysis when they actually harbored harmful BRCA mutations. In 2001, European researchers identified several mutations that Myriad’s test failed to find. An estimated 12% of women received erroneous negative test results on the ‘Comprehensive’ BRACAnalysis when in fact they carried a cancer-predisposing change in one of their BRCA genes. These “false negative” test results have literally cost the lives of women who were under the mistaken impression that they were not at increased risk to develop a deadly cancer. Myriad then waited years before offering their BART testing (for an additional cost of $700) to detect these changes.


Myth #3: Gene patents restrict access to genetic testing.

Myriad Fact: Because of the incentives provided by patents, companies invest millions of dollars in clinical studies that are essential for obtaining insurance coverage. For Myriad tests, approximately 95% of all appropriate patients have access to breast cancer susceptibility testing through private insurance, Medicare, Medicaid or Myriad’s Financial Assistance Program. Under our Financial Assistance Program, we test low-income, uninsured patients at no charge and have provided free testing to over 5,000 patients just in the past 3 years.

FACT: Myriad’s claim that 95% of all appropriate patients have access to testing through private insurance is deceptive, as some insurance companies do not consider women without a personal diagnosis of breast or ovarian cancer to be “appropriate” for testing. Women who are at high-risk based on their family histories may not meet insurance criteria for coverage. Their only alternatives are to pay themselves for Myriad’s test, which is prohibitively expensive for many, or forgo testing.
Also, many patients who do not meet insurance criteria are counseled as such before testing, and their DNA is never sent to Myriad. Therefore, Myriad has no idea how many appropriate patients are unable to have the testing they need.
The criteria for Myriad’s financial assistance program are extremely stringent and based on the U.S. Department of Health and Human Services poverty guidelines thereby excluding many women who need the test, live above “poverty” but can not afford the $4000 price tag. Myriad has deemed that the “neediest” of patients, those who are recipients of government funded programs (i.e., Medicaid, Medicare) or those that have any third-party insurance are not eligible to apply for their assistance program.
There are also medical criteria that patients must meet to apply for the financial assistance program and many at-risk women who are not currently affected with cancer would not meet the medical criteria even if they were to be impoverished enough to meet Myriad’s financial criteria. Individuals who can not afford the test but do not meet the criteria for financial assistance have no other options as Myriad has prevented any other option from existing.


Myth #4: Patented products are more expensive.

Myriad Fact: No, not according to scientific studies conducted by independent researchers. A study published in Genetics in Medicine found that, “Prices for BRCA1 and BRCA2 testing do not reflect an obvious price premium attributable to exclusive patent rights.” The Health and Human Services SACGHS’ Committee released its report on gene patents clearly stating: “The per-unit price of the full-sequenced BRAC test, which often is cited as being priced very high, was actually quite comparable to the price of full-sequence tests done on colon cancer for which associated patents are non-exclusively licensed.” Additionally, the total average out-of-pocket cost for patients taking a Myriad test is less than $100.

FACT: The current cost of BRCA1 and BRCA2 testing through Myriad is more $4000. In 1998, when the technology used to perform this test was newer and more expensive, academic laboratories were charging $1600. However, the company owning these genes continued to charge more money for a test that became progressively less expensive to perform. In fact, the cost of the DNA sequencing technology used has plummeted in the past 15 years. In the 1998 documentary film, In the Family, Joanna Rudnick, a BRCA carrier, speaks to Myriad’s owner and asks him directly why the price of the test is increasing when the cost of the technology used is decreasing. “That’s a good question,” he answers. He continues by saying, “I think there’s a point at which we have to start looking at decreasing the costs of the test.” That interview was in 1998, more than 15 years ago. Apparently Myriad does not feel that they have arrived at the “point” to consider decreasing the costs. They haven’t needed to. A complete monopoly means no free market competition.


Myth #5: Gene patents hinder research.

Myriad Fact: Actually patents do just the opposite; they facilitate research and ensure that there is full disclosure of new discoveries. Since the discovery of the BRCA genes more than 18,000 scientists have studied them, publishing more than 9,000 research papers. This makes the BRCA genes some of the most widely studied genes in the world. Myriad actually fostered and encouraged research around the BRCA genes by providing testing at cost to any researcher funded by the National Cancer Institute.

FACT: Not only did Myriad hold the patents on these two genes but also they also aggressively enforced their ownership rights. Myriad sent “cease-and-desist” letters to scientists researching these genes and laboratories who were providing diagnostic tests to their patients. Studies have shown that more than 50% of genetic labs have stopped research due to concerns about patented genes. This is the definition of hindering research.
Gene patents also interfere with research studying the influence of other genes and environmental factors towards the development of disease. Researchers have not been able to study how the BRCA genes may interact with other genes or with outside environmental factors, as that would entail examining the BRCA gene itself, which was prohibited by Myriad.

References:
Aaron S. Kesselheim and Michelle Mello. (2010) Gene Patenting – Is the Pendulum Swinging Back? New England Journal of Medicine 362:1855-58
Ellen Matloff and Arthur Caplan. (2008) Direct to Confusion: Lessons Learned from Marketing BRCA Testing. The American Journal of Bioethics 8(6):5-8
Eric Hoffman. (2011) Why Gene Patents Are Bad for Patients and Science. The-american-interest.com
Robert Dalpe et al., Watching the Race to Find the Breast Cancer Genes. Science, Technology, & Human Values 28(2): 187-216
Ellen Matloff and Karina Brierley. (2010) The double-helix derailed: the story of the BRCA patent. The Lancet 376:314-15
Mildred K. Cho et al., Effects of Patents and Licenses on the Provision of Clinical Genetic Testing Services. Journal of Molecular Diagnostics 5(1):3-8
Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing Program Available at http://www.genome.gov/sequencingcosts/.

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The Plot Thickens...

Myriad Genetics Files Suit Against Ambry Genetics for Genetic Diagnostic Testing of BRCA Genes

On July 9, 2013 Myriad Genetics sued Ambry Genetics, Corp. in the District of Utah, Central Division for patent infringement of ten patents relating to genetic diagnostic testing (Case No. 2:13-cv-00640-RJS; complaint). Ambry Genetics was one of the first companies to announce that it would provide genetic diagnostic testing for the BRCA 1 and BRCA 2 genes on the day the U.S. Supreme Court announced its decision in AMP v. Myriad Genetics on the question of "whether human genes are patentable." Joining Myriad as plaintiffs are the University of Utah Research Foundation, the Trustees of the University of Pennsylvania, HSC Research and Development Limited Partnership, and Endorecherche Inc.


The Complaint alleges that:

Defendant began offering its BRCA1 and BRCA2 analysis as part of its cancer testing menu on June 13, 2013. On information and belief, Defendant offers stand-alone tests comprising full gene sequencing and deletion/duplication analyses for the BRCA 1 and BRCA 2 genes. On information and belief, Defendant also offers full gene sequencing and deletion/duplication analyses for the BRCA 1 and BRCA 2 genes as part of multiple hereditary cancer panels that test cancer susceptibility using next-generation sequencing technology.

Defendant is infringing, contributing to the infringement of, and/or inducing others to infringe the '999 patent by making, manufacturing, promoting, marketing, advertising, distributing, offering for sale and selling and/or causing to be offered or sold certain BRCA1, BRCA2, BRCAPlus, BreastNext, OvaNext, and CancerNext products that infringe at least the following claim of [each of the patents in suit] literally and/or under the doctrine of equivalents for ten patents owned or licensed to Myriad.

The specific claims Myriad alleges are infringed include the following:

First Claim for Relief: U.S. Patent No. 5,709,999

Claim 6: A method for detecting a germline alteration in a BRCA1 gene, said alteration selected from the group consisting of the alterations set forth in Tables 12A, 14, 18 or 19 in a human which comprises analyzing a sequence of a BRCA1 gene or BRCA1 RNA from a human sample or analyzing a sequence of BRCA1 cDNA made from mRNA from said human sample with the proviso that said germline alteration is not a deletion of 4 nucleotides corresponding to base numbers 4184-4187 of SEQ ID NO:1, wherein a germline alteration is detected by amplifying all or part of a BRCA1 gene in said sample using a set of primers specific for a wild-type BRCA1 gene to produce amplified BRCA1 nucleic acids and sequencing the amplified BRCA1 nucleic acids.

Second Claim for Relief: U.S. Patent No. 5,747,282

Claim 6: An isolated DNA coding for a BRCA1 polypeptide, said polypeptide having the amino acid sequence set forth in SEQ ID NO:2, wherein said DNA has the nucleotide sequence set forth in SEQ ID NO:1, and having at least 15 nucleotides of the DNA of claim 2.

Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene.

Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1.

Third Claim for Relief: U.S. Patent No. 5,753,441

Claim 7: A method for screening germline of a human subject for an alteration of a BRCA1 gene which comprises comparing germline sequence of a BRCA1 gene or BRCA1 RNA from a tissue sample from said subject or a sequence of BRCA1 cDNA made from mRNA from said sample with germline sequences of wild-type BRCA1 gene, wild-type BRCA1 RNA or wild-type BRCA1 cDNA, wherein a difference in the sequence of the BRCA1 gene, BRCA1 RNA or BRCA1 cDNA of the subject from wild-type indicates an alteration in the BRCA1 gene in said subject, wherein a germline nucleic acid sequence is compared by hybridizing a BRCA1 gene probe which specifically hybridizes to a BRCA1 allele to genomic DNA isolated from said sample and detecting the presence of a hybridization product wherein a presence of said product indicates the presence of said allele in the subject.

Claim 8: A method for screening germline of a human subject for an alteration of a BRCA1 gene which comprises comparing germline sequence of a BRCA1 gene or BRCA1 RNA from a tissue sample from said subject or a sequence of BRCA1 cDNA made from mRNA from said sample with germline sequences of wild-type BRCA1 gene, wild-type BRCA1 RNA or wild-type BRCA1 cDNA, wherein a difference in the sequence of the BRCA1 gene, BRCA1 RNA or BRCA1 cDNA of the subject from wild-type indicates an alteration in the BRCA1 gene in said subject, wherein a germline nucleic acid sequence is compared by amplifying all or part of a BRCA1 gene from said sample using a set of primers to produce amplified nucleic acids and sequencing the amplified nucleic acid.

Claim 12: A method for screening germline of a human subject for an alteration of a BRCA1 gene which comprises comparing germline sequence of a BRCA1 gene or BRCA1 RNA from a tissue sample from said subject or a sequence of BRCA1 cDNA made from mRNA from said sample with germline sequences of wild-type BRCA1 gene, wild-type BRCA1 RNA or wild-type BRCA1 cDNA, wherein a difference in the sequence of the BRCA1 gene, BRCA1 RNA or BRCA1 cDNA of the subject from wild-type indicates an alteration in the BRCA1 gene in said subject, wherein a germline nucleic acid sequence is compared by amplifying BRCA1 nucleic acids from said sample to produce amplified nucleic acids, hybridizing the amplified nucleic acids to a BRCA1 DNA probe specific for a BRCA1 allele and detecting the presence of a hybridization product, wherein the presence of said product indicates the presence of said allele in the subject.

Claim 23. A method for detecting a germline alteration in a BRCA1 gene, said alteration selected from the group consisting of the alterations set forth in Tables 11 and 12 which comprises analyzing a sequence of the BRCA1 gene or BRCA1 RNA from a human sample or analyzing the sequence of BRCA1 CDNA made from mRNA from said sample, wherein a germline alteration is detected by amplifying all or part of a BRCA1 gene in said sample using a set of primers to produce amplified nucleic acids and sequencing the amplified nucleic acids.

Claim 26. A method for detecting a germline alteration in a BRCA1 gene, said alteration selected from the group consisting of the alterations set forth in Tables 11 and 12 which comprises analyzing a sequence of the BRCA1 gene or BRCA1 RNA from a human sample or analyzing the sequence of BRCA1 CDNA made from mRNA from said sample, wherein a germline alteration is detected by amplifying BRCA1 gene nucleic acids in said sample, hybridizing the amplified nucleic acids to a BRCA1 DNA probe specific for one of said alterations and detecting the presence of a hybridization product, wherein the presence of said product indicates the presence of said alteration.

Fourth Claim for Relief: U.S. Patent No. 5,837,492

Claim 29. A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene.

Claim 30. The pair of primers of claim 29 wherein said BRCA2 gene has the nucleotide sequence set forth in SEQ ID NO:1.

Fifth Claim for Relief: U.S. Patent No. 6,033,857

Claim 4. A method for diagnosing a predisposition for breast cancer in a human subject which comprises comparing the germline sequence of the BRCA2 gene or the sequence of its mRNA in a tissue sample from said subject with the germline sequence of the wild-type BRCA2 gene or the sequence of its mRNA, wherein an alteration in the germline sequence of the BRCA2 gene or the sequence of its mRNA of the subject indicates a predisposition to said cancer, wherein the detection in the alteration in the germline sequence is determined by an assay selected from the group consisting of (a) observing shifts in electrophoretic mobility of single-stranded DNA on non-denaturing polyacrylamide gels, (b) hybridizing a BRCA2 gene probe to genomic DNA isolated from said tissue sample, (c) hybridizing an allele-specific probe to genomic DNA of the tissue sample, (d) amplifying all or part of the BRCA2 gene from said tissue sample to produce an amplified sequence and sequencing the amplified sequence, (e) amplifying all or part of the BRCA2 gene from said tissue sample using primers for a specific BRCA2 mutant allele, (f) molecularly cloning all or part of the BRCA2 gene from said tissue sample to produce a cloned sequence and sequencing the cloned sequence, (g) identifying a mismatch between (1) a BRCA2 gene or a BRCA2 mRNA isolated from said tissue sample, and (2) a nucleic acid probe complementary to the human wild-type BRCA2 gene sequence, when molecules (1) and (2) are hybridized to each other to form a duplex, (h) amplification of BRCA2 gene sequences in said tissue sample and hybridization of the amplified sequences to nucleic acid probes which comprise wild-type BRCA2 gene sequences, (i) amplification of BRCA2 gene sequences in said tissue sample and hybridization of the amplified sequences to nucleic acid probes which comprise mutant BRCA2 gene sequences, (j) screening for a deletion mutation in said tissue sample, (k) screening for a point mutation in said tissue sample, (l) screening for an insertion mutation in said tissue sample, (m) in situ hybridization of the BRCA2 gene of said tissue sample with nucleic acid probes which comprise the BRCA2 gene.

Sixth Claim for Relief: U.S. Patent No. 5,654,155

Claim 2. A method of identifying individuals having a BRCA1 gene with a BRCA1 coding sequence not associated with breast or ovarian cancer comprising:
a) amplifying a DNA fragment of an individual's BRCA1 coding sequence using an oligonucleotide primer which specifically hybridizes to sequences within the gene;
b) sequencing said amplified fragment by dideoxy sequencing;
c) repeating steps (a) and (b) until said individual's BRCA1 coding sequence is completely sequenced;
d) comparing the sequence of said amplified DNA to the sequence of SEQ. ID. NO: 1;
e) determining the presence or absence of each of the following polymorphic variations in said individual's BRCA1 coding sequence:
AGC and ACT at position 2201, TTG and CTG at position 2430, CCG and CTG at position 2731, GAA and GGA at position 3232, AAA and AGA at position 3667, TCT and TCC at position 4427, and ACT and GGT at position 4956;
f) determining any sequence differences between said individual's BRCA1 coding sequences and SEQ. ID. NO: 1 wherein the presence of any of the said polymorphic variations and the absence of a polymorphism outside of positions 2201, 2430, 2731, 3232, 3667, 4427, and 4956, is correlated with an absence of increased genetic susceptibility to breast or ovarian cancer resulting from a BRCA1 mutation in the BRCA1 coding sequence.

Claim 3. A method according to claim 2 wherein said oligonucleotide primer is labeled with a radiolabel, a fluorescent label, a bioluminescent label, a chemiluminescent label or an enzyme label

Claim 4. A method of detecting an increased genetic susceptibility to breast and ovarian cancer in an individual resulting from the presence of a mutation in the BRCA1 coding sequence, comprising:
a) amplifying a DNA fragment of an individual's BRCA1 coding sequence using an oligonucleotide primer which specifically hybridizes to sequences within the gene;
b) sequencing said amplified fragment by dideoxy sequencing;
c) repeating steps (a) and (b) until said individual's BRCA1 coding sequence is completely sequenced;
d) comparing the sequence of said amplified DNA to the sequence of SEQ. ID. NO: 1;
e) determining any sequence differences between said individual's BRCA1 coding sequences and SEQ. ID. NO: 1 to determine the presence or absence of polymorphisms in said individual's BRCA coding sequences wherein a polymorphism which is not any of the following:
AGC or AGT at position 2201, TTG or CTG at position 2430, CCG or CTG at position 2731, GAA or GGA at position 3232, AAA or AGA at position 3667, TCT or TCC at position 4427, and AGT or GGT at position 4956;
is correlated with the potential of increased genetic susceptibility to breast or ovarian cancer resulting from a BRCA1 mutation in the BRCA1 coding sequence.

Seventh Claim for Relief: U.S. Patent No. 5,750,400

Claim 2. A method of identifying individuals having a BRCA1 gene with a BRCA1 coding sequence not associated with ovarian or breast cancer disease, comprising:
(a) amplifying a DNA fragment of an individual's BRCA1 coding sequence using an oligonucleotide primer which specifically hybridizes to sequences within the gene;
(b) sequencing said amplified DNA fragment by dideoxy sequencing;
(c) repeating steps (a) and (b) until said individual's BRCA1 coding sequence is completely sequenced;
(d) comparing the sequence of said amplified DNA fragment to a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5;
(e) determining the presence or absence of each of the following polymorphic variations in said individual's BRCA1 coding sequence:
(i) C and T at position 2201,
(ii) T and C at position 2430,
(iii) C and T at position 2731,
(iv) A and G at position 3232,
(v) A and G at position 3667,
(vi) T and C at position 4427, and
(vii) A and G at position 4956;
(f) determining any sequence differences between said individual's BRCA1 coding sequences and a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5, wherein the presence of said polymorphic variations and the absence of a variation outside of positions 2201, 2430, 2731, 3232, 3667, 4427 and 4956 is correlated with an absence of increased genetic susceptibility to breast or ovarian cancer resulting from a BRCA1 mutation in the BRCA1 coding sequence.

Claim 3. A method of identifying individuals having a BRCA1 gene with a BRCA1 coding sequence not associated with ovarian or breast cancer disease, comprising:
(a) amplifying a DNA fragment of an individual's BRCA1 coding sequence using an oligonucleotide primer which specifically hybridizes to sequences within the gene;
(b) sequencing said amplified DNA fragment by dideoxy sequencing;
(c) repeating steps (a) and (b) until said individual's BRCA1 coding sequence is completely sequenced;
(d) comparing the sequence of said amplified DNA fragment to a BRCA1(omi)) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5;
(e) determining the presence or absence of each of the following polymorphic variations in said individual's BRCA1 coding sequence:
(i) C and T at position 2201,
(ii) T and C at position 2430,
(iii) C an d T at position 2731,
(iv) A and G at position 3232,
(v) A and G at position 3667,
(vi) T and C at position 4427, and
(vii) A and G at position 4956; and
(f) determining any sequence differences between said individual's BRCA1 coding sequences and a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5, wherein the presence of said polymorphic variations and the absence of a variation outside of positions 2201, 2430, 2731, 3232, 3667, 4427 and 4956 is correlated with an absence of increased genetic susceptibility to breast or ovarian cancer resulting from a BRCA1 mutation in the BRCA1 coding sequence;
wherein codon variations occur at the following frequencies, respectively, in a Caucasian population of individuals with no family history of breast or ovarian cancer:
(i) at position 2201, C and T occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(ii) at position 2430, T and C occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(iii) at position 2731, C and T occur at frequencies from about 25 to about 35%, and from about 65 to about 75%, respectively;
(iv) at position 3232, A and G occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(v) at position 3667, A and G occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(vi) at position 4427, T and C occur at frequencies from about 45 to about 55%, and from about 45 to about 55%, respectively; and
(vii) at position 4956, A and G occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively.

Claim 4. A method according to claims 2 or 3, wherein said oligonucleotide primer is labeled with a radiolabel, a fluorescent label, a bioluminescent label, a chemiluminescent label, or an enzyme label.

Claim 5. A method of detecting an increased genetic susceptibility to breast and ovarian cancer in an individual resulting from the presence of a mutation in the BRCA1 coding sequence, comprising:
(a) amplifying a DNA fragment of an individual's BRCA1 coding sequence using an oligonucleotide primer which specifically hybridizes to sequences within the gene;
(b) sequencing said amplified DNA fragment by dideoxy sequencing;
(c) repeating steps (a) and (b) until said individual's BRCA1 coding sequence is completely sequenced;
(d) comparing the sequence of said amplified DNA fragment to a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5;
(e) determining any sequence differences between said individual's BRCA1 coding sequences and a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ. ID. NO.: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5 in order to determine the presence or absence of base changes in said individual's BRCA1 coding sequence wherein a base change which is not any one of the following:
(i) C and T at position 2201,
(ii) T and C at position 2430,
(iii) C and T at position 2731,
(iv) A and G at position 3232,
(v) A and G at position 3667,
(vi) T and C at position 4427, and
(vii) A and G at position 4956, is correlated with the potential of increased genetic susceptibility to breast or ovarian cancer resulting from a BRCA1 mutation in the BRCA1 coding sequence.

Claim 6. A method of detecting an increased genetic susceptibility to breast and ovarian cancer in an individual resulting from the presence of a mutation in the BRCA1 coding sequence, comprising:
(a) amplifying a DNA fragment of an individual's BRCA1 coding sequence using an oligonucleotide primer which specifically hybridizes to sequences within the gene;
(b) sequencing said amplified DNA fragment by dideoxy sequencing;
(c) repeating steps (a) and (b) until said individual's BRCA1 coding sequence is completely sequenced;
(d) comparing the sequence of said amplified DNA fragment to a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5;
(e) determining any sequence differences between said individual's BRCA1 coding sequences and a BRCA1(omi) DNA sequence selected from the group consisting of: SEQ ID NO: 1 together with SEQ ID NO: 3, SEQ ID NO: 1 together with SEQ ID NO: 5, SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 1 together with SEQ ID NO: 3 together with SEQ ID NO: 5, SEQ ID NO: 3 and SEQ ID NO: 5 in order to determine the presence or absence of base changes in said individual's BRCA1 coding sequence wherein a base change which is not any one of the following:
(i) C and T at position 2201,
(ii) T and C at position 2430,
(iii) C and T at position 2731,
(iv) A and G at position 3232,
(v) A and G at position 3667,
(vi) T and C at position 4427, and
(vii) A and G at position 4956, is correlated with the potential of increased genetic susceptibility to breast or ovarian cancer resulting from a BRCA1 mutation in the BRCA1 coding sequence, wherein codon variations occur at the following frequencies, respectively, in a Caucasian population of individuals with no family history of breast or ovarian cancer:
(i) at position 2201, C and T occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(ii) at position 2430, T and C occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(iii) at position 2731, C and T occur at frequencies from about 25 to about 35%, and from about 65 to about 75%, respectively;
(iv) at position 3232, A and G occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(v) at position 3667, A and G occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively;
(vi) at position 4427, T and C occur at frequencies from about 45 to about 55%, and from about 45 to about 55%, respectively; and
(vii) at position 4956, A and G occur at frequencies from about 35 to about 45%, and from about 55 to about 65%, respectively.

Claim 7. A method according to claims 5 or 6, wherein said oligonucleotide primer is labeled with a radiolabel, a fluorescent label, a bioluminescent label, a chemiluminescent label, or an enzyme label.

Eighth Claim for Relief: U.S. Patent No. 6,051,379

Claim 32. A method of detecting a predisposition or higher susceptibility to cancer in an individual, comprising:
(a) digesting DNA from an individual to obtain DNA fragments;
(b) separating said DNA fragments;
(c) detecting a DNA fragment containing nucleotide number 2192, 3772, 5193, 5374, 6495 or 6909 of the BRCA2 gene sequence or a sequence variation at nucleotide number 2192, 3772, 5193, 5374, 6495 or 6909 of the BRCA2 gene sequence by sequencing;
(d) comparing the sequence of said fragment with the BRCA2 gene sequence to determine the presence or absence of a sequence variation at nucleotide number 2192, 3772, 5193, 5374, 6495 or 6909, wherein the presence of a sequence variation indicates a predisposition or higher susceptibility to cancer.

Claim 33. A method according to claim 32 further comprising amplifying said DNA fragments prior to the detecting step (c).

Ninth Claim for Relief: U.S. Patent No. 6,951,721

Claim 5. A method for determining an omi haplotype of a human BRCA1 gene comprising: (a) determining the nucleotide sequence of the BRCA1 gene or fragment thereof from at least one female individual with a family history which indicates a predisposition to breast cancer, (b) comparing the determined nucleotide sequence from said female individual to SEQ ID NO: 263, and (c) determining the presence of the following nucleotide variations: thymine at nucleotides 2201 and 2731, cytosine at nucleotides 2430 and 4427, and guanine at nucleotides 3232, 3667 and 4956, wherein the presence of the nucleotide variations in the determined nucleotide sequence indicates the omi1 haplotype, further comprising comparing the determined nucleotide sequence to SEQ ID NO: 265.

Tenth Claim for Relief: U.S. Patent No. 7,250,497

Claims 3, 4, 5, 6, 7, 8, 11, 14, 17, 18, 19

[Claim 1. An isolated nucleic acid comprising SEQ ID NO:6, and the complement thereof.

Claim 2. The isolated nucleic acid of claim 1, wherein said isolated nucleic acid comprises SEQ ID NO:37, or the complement thereof.]

Claim 3. A method of making the isolated nucleic acid of claim 2 comprising amplifying genomic DNA isolated from a sample obtained from a human patient.

Claim 4. A method of making the isolated nucleic acid of claim 1 comprising amplifying genomic DNA isolated from a sample obtained from a human patient.

Claim 5. The method of claim 4, wherein said sample is a blood sample.

Claim 6. The method of claim 4, wherein said amplification is by the polymerase chain reaction.

Claim 7. The method of claim 4, wherein said patient is being evaluated for an enhanced risk of cancer.

Claim 8. The method of claim 4, wherein said cancer is breast or ovarian cancer.

Claim 11. A method of making the isolated nucleic acid of claim 9 comprising amplifying genomic DNA isolated from a sample obtained from a human patient.

Claim 14. A method of making the isolated nucleic acid of claim 12 comprising amplifying genomic DNA isolated from a sample obtained from a human patient.

Claim 17. A method of making the isolated nucleic acid of claim 15 comprising amplifying genomic DNA isolated from a sample obtained from a human patient.

Claim 18. The isolated nucleic acid of claim 1, wherein said isolated nucleic acid comprises SEQ ID NO:41, or the complement thereof.

Claim 19. A method of making the isolated nucleic acid of claim 18 comprising amplifying genomic DNA isolated from a sample obtained from a human patient.

These method claims differ from the claims invalidated by the District Court in the Myriad case and affirmed by the Federal Circuit, which recited as limitations merely "comparing" an individual's BRCA gene sequence with the "normal" one, and thus Myriad is less likely to be estopped from asserting these claims against Ambry.

Myriad's Relief Requested in its complaint includes judgment of patent infringement, an injunction, an accounting and damages, delivery for destruction of all "products" that infringe any of the asserted claims, a finding of willful infringement, and a request for attorneys' fees, enhanced damages and costs of suit. Myriad also demands a jury trial.

As has been discussed in earlier posts, some of these claims (e.g., directed to oligonucleotides) may be subject to invalidation on novelty grounds (see "Caught in a Time Warp: The (In)validity of BRCA1 Oligonucleotide Claims"). In addition, not all assignees are named in the complaint (most notably the U.S. Government "as represented by the Secretary of Health") and insofar as any of them are adjudged to be indispensible parties, any unwillingness to be joined might cause Myriad procedural difficulties. But it is significant that Myriad has decided to assert these patents, and its continued ability to do so illustrates one of the generally unappreciated aspects of the Myriad case. Plaintiffs in that case and their supporters, the ACLU and Public Patent Foundation, chose the claims against which to assert their challenge to the validity of Myriad's patents. Which means, of course, that they chose not to challenge the claims Myriad is now asserting, leaving the plaintiffs (including breast cancer patients) without the full and complete remedy they no doubt were promised and that the press seems to believe the Supreme Court's June 13 decision gave them (see "Reaction to Supreme Court's Decision in AMP v. Myriad" and "Does the Myriad Decision Presage a Golden Age of Patent-Free Personalized Medicine?"). Instead, plaintiffs challenged claims to isolated DNA (characterized as "genes"), even though such claims are not infringed by the practice of modern genetic diagnostic methods. The result of these strategic (and ultimately political or at least public-relations focused) decisions is that Myriad owns or has licensed patents that presumptively preclude Ambry Genetics or any other provider from offering BRCA gene-directed genetic diagnostic tests until these patents expire in the next few years. In short, the parties are in exactly the same position that existed prior to the Myriad suit. While this outcome should have been expected, it raises doubts about the consensus narrative of what "everybody knows" this case was all about.

Original article from Patent Docs - July 9, 2013



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Fear, Bravery and HBOC

Notes from the Executive Director of FORCE

Recently the topics of BRCA and bravery have been in the news. Previvor Angelina Jolie made headlines when she announced that she carries a BRCA1 mutation and underwent prophylactic bilateral mastectomies. Singer Melissa Etheridge, a BRCA2 mutation carrier and a breast cancer survivor, labeled Jolie's choice of BPM as "fearful" rather than "brave." Personally, I don’t think that bravery and fear are mutually exclusive.

Fear is a powerful motivator. It is an adaptive and natural reaction to threats to our lives and well-being that can lead us to make choices that improve our survival or quality-of-life. Fear of cancer may not be the only fear on which we base decisions. Fear comes in many varieties: fear of chemotherapy or radiation, fear of life-altering or image-altering surgeries, fear of leaving our children parentless, fear of passing on a mutation, fear of medical debt, fear of a recurrence, etc. Each of these fears are valid and may impact our personal health care decisions. Fear does not make our actions any less brave and it doesn’t mean these decisions are rash or uninformed. Fear can be balanced with information, empowerment, action, and even competing fears.

Bravery evokes images of heroic people sacrificing their lives for others, but there are other examples of bravery. Like so many women in our community, Angelina Jolie cites concern for her children as a reason for being proactive with her medical care. Putting the needs of others above our own requires courage. Several members have expressed that they didn’t feel particularly brave in facing their cancer risk. Although I can relate to their feelings, I would argue that the HBOC community includes some of the bravest role models I have ever met.

Most of my life I have never felt that brave, and bravery was never a description that I ever used to define myself. I was bullied in school, and I didn’t stand up for myself. Instead I shrank from confrontation.

When I was first diagnosed with breast cancer, and later when it recurred at age 34, I was terrified. I thought the rest of my life would be short, and given my prognosis I was afraid my 2-year-old son would grow up without a mom, like I did. So I did what I felt was necessary to improve my chances of survival: I left my busy veterinary practice to move to Houston for treatment at MD Anderson, one of the top cancer centers. My husband called me brave as he dropped me off for my appointment for a second opinion. I may have appeared resolute, but inside I was trembling. He confessed later when he picked me up that he would have fainted from terror walking through the imposing doors of the cancer center.

While on sabbatical for treatment, many of my clients called or wrote to wish me well. They sent their prayers and good wishes, and many told me they thought I was brave. I didn’t feel I had earned any badges for valor. I was simply doing what my doctors recommended. From the time of my recurrence until I finished treatment, on any given day it was a struggle between getting up and facing the day or hiding under the covers paralyzed with fear. I didn’t feel brave, but hearing the word from others was like a shot of courage, a mantra that sustained me.

As members of the HBOC community, we face many difficult challenges and decisions. Courage comes in many forms. Whether it’s proceeding with genetic counseling and testing, telling relatives about the mutation in the family, going to a high-risk clinic for an MRI, facing cancer treatment, entering a clinical trial for an investigational drug, waiting for test results, receiving that first chemotherapy, undergoing the last fill, or sharing with the world in a very public manner about personal medical choices in order to raise awareness; every circumstance we face requires grit and determination. Even the recommendations for which we feel we have no reasonable alternative still require us to move forward, schedule the appointment, and show up. Why shouldn’t we accept the positive labels? We might not feel we have earned them, but maybe we can gain strength from them.

Life is hard enough. And for people with inherited cancer risk, it is even more so. It is already difficult to face the criticism and lack of understanding from uninformed people. It is even harder when criticism comes from public figures and receives wide media attention. Uniting our community through FORCE demonstrates how much lighter our burden can be when we share and support one another.

We shouldn’t be ashamed of our feelings. Bravery is not the absence of fear. Acknowledging our fears and adding them into the medical equation is a reasonable approach to decision making. You don’t have to feel brave to be brave. Sometimes courage means just putting one foot in front of the other to meet your destiny. Your example of fortitude may be the inspiration others need to continue their own journey in a positive direction.

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JULY 14th: Benefit for Bill Becker - Raising Hope and Awareness for Male Breast Cancer

Bill Becker is a family man. Bill Becker is a man who knows his way around technology. Bill Becker plays bass guitar. Bill Becker is a beloved friend and family member to many.

And when Bill Becker got sick he became a fighter, a warrior and an activist. Bill shook the stigma of male breast cancer and made a point to share his story with as many people as he could in as many ways as possible. And many are damn proud of him.

While breast cancer is more commonly known to strike women, real men do, in fact, get breast cancer. They make up less than one percent of cases but the percentage of men who die of breast cancer is higher compared to women. So, just like women, Bill had to undergo surgery, a full mastectomy on the left side of his chest. At stage 3, the lump that was discovered was 3cm... large for a man, not so much for a woman. A woman would have received a lumpectomy.

This father of six has since been raising awareness about the male disease, most recently in news reports on CT local TV news stations. Bill has also been part of The SCAR Project: Male Breast Cancer, an unabashed pictorial of the disease shot by fashion photographer David Jay. David Jay photographed Bill, his first subject, back in May 2012.

So lets celebrate Mr. Bill Becker with an afternoon of food, drink, music and support. Join Graylight Campfire, Tri-Axle, Pirate Radio and Jason P. Krug of The Grimm Generation as we sing a song (or several) for a friend.

Sunday, July 14th
$10 gets you in. Food, drink, live music, 50/50 raffles. Friends and family celebrate 12-5PM on the water in beautiful Black Rock at the Norden Club.

Click here to see the original story in the Elm City Beat

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