My daughter was diagnosed with breast cancer in 2012 at the age of 31. We are Ashkenazi and my mother had died over 20 years earlier of what we were told was "gall bladder cancer." My daughter was tested and found to be BRCA2+. I was then tested also am BRCA2+. Three years later, my daughter died of breast cancer. I still have never had cancer, but I had the recommended prophylactic surgeries (breasts and ovaries removed), and am screened regularly for pancreatic, liver and gall bladder cancer at Columbia-Presbyterian in NY. No physician ever suggested BRCA testing to me prior to my daughter's diagnosis and I had no idea that my mother's cancer could be related to the mutation. I think doctors must be better informed, and as one person noted, BRCA testing must be routine and covered for anyone with a family history of these associated cancers. My mother was adopted and I knew there was no known cancer among my grandmother and her eight siblings, whom I had found in the 1990s. But only recently, I confirmed the identity of my mother's father. Indeed, he died of "stomach cancer" and a daughter - my mother's half sister - apparently died of a gynecological cancer. I also learned of another cousin on that side who is BRCA2+. What you don't know CAN hurt you. My daughter would be alive today had I tested years earlier. Physicians must advise their patients better.
Problem is once you test BRCA positive, there are very limited available tests - especially for men. My brother knew we had risk and got regular GI screenings - colonoscopy, endoscopy, abdominal ultrasound. Pancreatic cancer wasn’t detected - and metastasized within 6 months between tests to liver and bone.
Discussing my own BRCA positive test, doctor said “we really don’t have good cancer tests” for male BRCA. Pancreatic cancer screening is basically nonexistent. I have to pay out of pocket for my own CT scans. Prostate cancer screening is unreliable. I have had multiple PSA tests showing 4 - which is high for my age. But insurance won’t cover a prostate biopsy.
Gene testing is great. But I hope we can make progress in actual cancer screening - like recent blood tests that can identify if there is any form of cancer in your body.
I thought knowing I had BRCA would be helpful. It’s not. I still need to push all my doctors and insurance to get testing - which is imperfect. I live knowing I will get cancer - and that screenignnwont necessarily catch it.
I agree with the author that its very important to bring more awareness towards understanding BRCA mutations and providing resources for people who are interested in more information regarding testing and genetic counseling. I do believe that overall the awareness and available information regarding BRCA mutations has increased tremendously over the past few years. This includes companies such as 23andMe offering "FDA-Authorized,
Direct-To-Consumer BRCA Test". This test can be a great start for someone that does not want to go through their health insurance to get tested or see a genetic counselor, but still would like to be tested. Another very interesting point that was brought up in the article is what physicians should do regarding patients who decline genetic testing, but have a significant family history. Physicians are taught to do what's best for the patient and also to respect the patient's wishes and autonomy. The author's suggestion of treating someone who denies the test as if they had the BRCA mutation, upholds both these principles.
Thank you for this article and bringing awareness of the BRCA mutations to more people. I was diagnosed IIIc ovarian cancer in 1987 when I was 41 years old. I knew I was at risk for breast cancer because my dad's mother passed away from it when she was 51 years old. Even though my dad was an ob/gyn I never heard of ovarian cancer until I was diagnosed. The BRCA2 mutation was discovered in 1995. I found out I had the mutation in 1998. I inherited the mutation from my dad who passed away from pancreatic cancer in 1982. Since my dad was the youngest of nine siblings many in my family have been effected by the BRCA2 mutation. My brother and I have tried to encourage everyone in the family to have genetic testing. Everyone needs to be educated. The most deadly cancers have no early detection tests. Knowledge is power. We need to be proactive with more awareness.
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Beware that taking prophylactic measures is not a 100% foolproof way to prevent cancer if you are BRCA1+. Stay vigilant! My mother died from breast cancer in 1958 when I was 6 years old. I was diagnosed with breast cancer in 2003. In 2007, I finally had genetic testing to find I was BRCA1+. (Yes, I am an Ashkenazi Jew) I had prophylactic surgery (removal of ovaries and fallopian tubes) along with high risk monitoring for an additional breast cancer. Imagine my surprise and shock (and that of my oncologist) when I was diagnosed with Stage IIIC Primary Peritoneal Cancer in 2011, likely caused by very early stage cancer cells left behind in 2007. The chance of getting this cancer after the prophylactic surgery is exceedingly rare, although a higher risk if you are BRCA1+. The silver lining? Having the BRCA1+ mutation gives you a better chance of good responses to treatments. I am on my 2nd recurrence and like Susan, I have also been on a PARP inhibitor for more than 2 years with a great response to date. The breast cancer has not returned. I am feeling very lucky and have been the fortunate patient of two fabulous female oncologists who have kept me alive with their knowledge and care. Even if you don't have children, genetic testing is critical. Knowledge is power!
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Just to chime in-- those who tested negative before 2010 should consider being retested. I fell in that category. When I was diagnosed with breast cancer in 2014, I was asked to have the genetic test. I said I had already tested negative. Like many things, the test improved. Our family carries a deletion, not a mutation...... Point being, if you or a loved one or patient of your tested negative prior to 2010 , they might want to sit down with a genetics counselor once more. Here's a piece I wrote on this topic.
https://www.huffingtonpost.com/amy-rothenberg-nd/brca-test-and-retest_b_...
Thank you for your wonderful article. You got it right: ALL Ashkenazi Jews should be tested or offered testing for BRCA mutations because of the 1 in 40, regardless of family history. If we followed National Comprehensive Cancer Network recommendations by testing Ashkenazi Jews for BRCA mutations in those only with a family history of breast, ovarian or pancreatic cancer, studies have shown we will miss most men and women who carry BRCA mutations. If we can identify who carries a BRCA mutation, that 1 in 40, we can follow guidelines to help prevent cancer or increased surveillance at its earliest most treatable stage. In South Florida, we started Yodeah, which in Hebrew is loosely translated “to know”, with the mission of educating and facilitating cost effective testing for BRCA mutations in the Ashkenazi Jewish community. We go to synagogues, JCCs, Jewish organizations and discuss this AND test at the same time. It is lifesaving. But we need a groundswell in the Ashkenazi Jewish community—for the community to take it on as THEIR issue and demand testing as policy, much as was done in the 60s and 70s with Tay Sachs.
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There is a study called BFOR (The BRCA Founder Outreach Study) offering FREE genetic testing for the three common mutations in BRCA1 and BRCA2. www.BFORstudy.com
Education is provided through informative online videos, and then you are provided with a coupon to take to a local lab to get your blood drawn. If there is extensive family history, a BFOR study team member may recommend you continue with more extensive gene panel testing that would address additional possibilites. The study is being conducting in NYC, Philadelphia, Boston and LA. If you are found to carry a harmful mutation, you would benefit at that point to be seen by a cancer genetics expert.
As an admirer of Lauren Corduck, her courage, her boundless energy and her commitment to increase awareness that 1 in 40 members of the Jewish community carries a mutation in BRCA1 or BRCA2, please consider testing. You may not have any family history of cancer you know of - consider getting tested anyway. You may have history only on your father's side - consider getting tested. I know she would give anything to turn the clock back and not be engaged in this fight for her life - for many, there is still time.
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My mother died within 4 weeks of her diagnosis of ovarian cancer, at a time when genetic testing was not yet available and no family history. A few years later, my doctor found a uterine polyp and I underwent complete hysterectomy and now know that I will not suffer her fate. Is it at all possible that complete hysterectomy upon demand by women who wish to avoid the devastating diagnosis of ovarian cancer may some day be considered a therapeutic procedure, as an effective method to prevent endometrial and ovarian cancers? So many unsuspecting women are caught out and die needlessly of these silent killers.
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Just a reminder that cancer can occur in Ashkenazi families even if you are negative for BRCA. Both my mother and I were diagnosed with breast cancer before we turned 50. My mother opted not to have genetic testing. When I was diagnosed, I opted to have genetic testing, if only to have knowledge to give my younger sisters. Much to my surprise, I was negative for BRCA. I later enrolled in a clinical study to look for other mutations affiliated with cancers, including breast and pancreatic cancer (what my mother eventually died from). I was negative for all known mutations in that trial.
Sometimes cancer just happens.
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Thanks for this. My cousin died of cancer in his 40s and was tested positive for BRCA. He pushed his family to get tested. Luckily I’m negative, but I’ll be forever grateful to him for raising awareness in our family even as he was suffering so terribly.
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The endogamy the kept Judaism alive for three thousand years has had severe genetic repercussions. By marrying out, maybe your kids won't be as smart, but they might be healthier.
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Ms. Grubar. I am so happy that you are still alive. I read your amazing book on your experiences with ovarian cancer. I was so afraid to look up what happened to you after the book was published. I am so glad that you are still around and able to advocate and teach.
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Unfortunately, too many physicians and journalists ignore Oncological Terrain-Dependent, Inherited Real Risk, e.g. of breast cancer (1). Glioblastoma Inherited Real Risk is an exception (2). All heritable risks are eliminated from the birth by medical therapy, Reconstructing Mitochondrial Quantum Therapy (3,4).
1) Sergio Stagnaro and Simone Caramel. BRCA-1 and BRCA-2 mutation bedside detection and breast cancer clinical primary prevention. Front. Genet. | doi: 10.3389/fgene.2013.00039. http://www.frontiersin.org/Cancer_Genetics/10.3389/fgene.2013.00039/full [MEDLINE]
2)Sergio Stagnaro. Glioblastoma: Diagnosi Semeiotico-Biofisico-Quantistica a iniziare dal suo Reale Rischio Congenito. Giugno 14, 2017, https://dabpensiero.wordpress.com/2017/06/14/glioblastoma-diagnosi-semei...
3) Caramel S., Marchionni M., Stagnaro S. Morinda citrifolia Plays a Central Role in the Primary Prevention of Mitochondrial-dependent Degenerative Disorders. Asian Pac J Cancer Prev. 2015;16(4):1675. http://www.ncbi.nlm.nih.gov/pubmed/25743850 [MEDLINE]
4) Sergio Stagnaro and Simone Caramel (2013). The Role of Modified Mediterranean Diet and Quantum Therapy in Oncological Primary Prevention. Bentham PG., Current Nutrit
2
BRCA is also prevalent in the Irish.
After my mother and grandmother were both dead at 39 of "natural" causes, I was thrilled to live to see 41, only to be told I had bc. One look at my sparse family tree (including a cousin in active treatment for melanoma ) convinced my fantastic care team to encourage me to get BRCA tested.
Turns out, the Irish have a strain of BRCA2 not commonly discussed or acknowledged. However, with my test results I was able to offer my entire family key genetic information and my younger sister is now a "previvor", having undergone a double mastectomy and salpingo oophorectomy as a precaution (she is also BRCA positive.)
With BRCA, it's not "if" you will get cancer, but "when."
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“Half of the people with a BRCA mutation have no known family history of the BRCA cancers.” That’s terrifying because an insurer won’t cover testing, if they ever cover it, unless a close family member had breast or ovarian cancer, or once you get cancer. Men don’t even think to get tested for it.
There are many Jewish organizations that already facilitate affordable prenatal genetic testing. They also need to subsidize this, regardless of gender or if someone is planning on having children.
As for me, to test or not to test
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@S marcus
It’s scary, but the reality is that testing is so much easier today than it was just a couple years ago. Companies like Color (and fine, 23andme too) have made this testing relatively affordable— a couple hundred dollars compared to 5,000 or more.
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@Alex
The Color test detects the full spectrum of alterations in the BRCA gene but the 23 and me only detects 3 most commonly found Among individuals of high risk Jewish ancestry. Prior to these tests even if you had a positive family history of breast/ovarian cancer the test cost $400 with insurance! The Color test is available for $99 this month.
I was found to be BRCA + after a family member was screened leading to an elective hysterectomy. Stage 1 ovarian cancer was found and I’m cancer free 2 plus years from my surgery. I strongly recommend testing.
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Are they released able?
Thank you for spreading awareness of BRCA mutations. I was disappointed to see young breast and ovarian patients were completely left out of this discussion. A disproportionate amount of young people that get diagnosed with breast and ovarian cancers carry mutations such as BRCA. The impacts of these cancers on young people is unique. Young adults are finishing school, in pivotal points in their careers, dating or finding a partner, and making important decisions about their futures as potential parents. A cancer diagnosis throws a wrench in these plans, and learning BRCA status as a young adult plays a large role too.
As a young adult breast cancer survivor who only learned about my BRCA status after my diagnosis, I was so looking forward to this article when I saw the headline. Instead, I feel very disappointed to once again have my population omitted.
I agree that genetic testing should be part of prevention, but there is no note of the financial burdens that come along with that. It is not that simple- most insurance companies require positive test results from a close relative, or a cancer diagnosis. We need to push for more affordable testing and for insurance companies to cover it.
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@Sam, Thank you for writing this on behalf of young potentially positive BRCA patients. My mother has known she is BRCA1+ for over ten years now. Multiple aunts/uncles/grandmothers have had cancer. I have gone with her to almost every appointment. She has undergone three surgeries to prevent cancer. Yet, my doctor will not prescribe me preventive screening because I do not want to get tested right now (while I am working, in school, getting married). However, I still want to do early screening in case, although hopefully not, I get cancer. However, since my mom didn't physically have cancer, she said there is no way an insurance company would cover my own preventative treatment. This is a huge problem. My doctor berated me for not wanting to get tested at this time. She said that she will treat me with the presumption that I am BRCA negative until I get tested, even though I also have a 50% chance of being positive. She says I may not be worrying about things that I don't need to worry about. I prefer to be informed about both problems. The more difficult information is to be positive. The amount of pressure that I have to get tested between the insurance companies and my doctor is very alarming. I should have the choice over my own body and it should not depend on whether my mother actually had cancer. These companies and doctors are pressuring children of parents who took preventive measures against cancer to get tested. This is very alarming!
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@Concerned27yr.old: You are right to be concerned about the possibility that you are BRCA1 positive like your mom. Your doctor should be concerned, as well. I would recommend you find a different doctor who will treat you with the presumption that you are BRCA positive until you are ready to test. Good luck to you!
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Not just cover the testing, but also we need protections from insurance companies to not treat this as a preexisting condition- protections this administration is trying to eliminate !
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My wife is a breast cancer survivor of 25+ years now. I am of Ashkenazi Jewish heritage. At our daughter's suggestion we got genetic counseling about one year ago. We were relieved, of course, to learn that neither one of us have any BCRA or other genetic mutations which might increase the cancer risks that our daughter faces because of her mother/my wife has had cancer. But it could be that both of them were exposed to a cancer causing chemical when our daughter was quite young. Ie, our daughter still faces a higher than average risk of developing breast cancer.
I strongly encourage people to get tested. One cautionary note, however: our genetic counselor suggested we return in a few years to see if any recent developments might mean that we could/should get tested again for other genetic mutations which might have been discovered in the interim. Ie, it is an evolving field.
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As a cancer genetic counselor I applaud Ms. Gubar with providing information on the prevalence of BRCA mutations in the Ashkenazi Jewish population. Ms. Corduck is an inspiration to all in her forming an organization that will provide education and awareness to the community.
I think it is important that readers understand that the link in the article regarding the newer saliva test, understand that it is a very limited test, and not one that a genetic counselor would recommend. It only looks at the three common Ashkenazi Jewish mutations, there are thousands of other mutations in the gene that it does not look for. Individuals that receive a negative result, may have a false sense of security. In addition there are many other genes that have been identified that increase risk for breast and or ovarian cancer.
I strongly encourage anyone that is considering genetic testing to meet with a genetic counselor, we are there to provide information so individuals can make an informed decision not to encourage or discourage testing.
The support organization FORCE (facing our risk for cancer empowerment) is an excellent resource for anyone looking for information on hereditary cancer.
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Thank you for mentioning the extraordinary scientist Rosalind Franklin whose untimely death meant that she never received the recognition she deserved for her crucial work on the structure of DNA. By rights her name should be as well known as those of Crick and Watson. She was an inspirational figure for women in the scientific field which was so male dominated when she was working.
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Genetic testing for VDR and methylation variations needs to be done by puberty. There is a large subset that would not get breast cancer if they had sufficient Vit D and B12. Hopefully the supercomputers can help researchers untangle this puzzle, for the population that gets breast cancer without having the BRCA gene.
4
We have come a long way from the early day discussions about the value of having our genetic mutations identified and whether to act on such information. The reasons for doing so are growing but so are the areas where there is uncertainty about whether to do act, what to do and why.
In my experience with cancer, I forged ahead with getting as much cancer-related genetic information as possible, having identified the necessary medical resources like excellent genetic counseling and cancer specialists who were well aware of the many genetic "if-then" scenarios like, "if I have this mutation, I have this degree of elevated risk." And if I act on new genetic information, I can determine what action is best for me and just the general population.
Finally, one should keep their genetic information as private as possible for obvious reasons. The institution where I had my testing done would not put the data into my e-record. They would only snail mail it to me.
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I am in agreement in keeping your info as private as possible and off the internet. Most places do not do that. Can you please share where I can have my results sent by snail mail. Thank you
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Sorry but you are wrong. There is a reliable detection tool for ovarian cancer. It is transabdominal and transvaginal ultrasound ( sonograms ) which, when performed by an experienced and fellowship trained board-certified radiologist, can detect asymptomatic ovarian cancer at stage one. Annual pelvic sonograms are necessary. If there is a BRCA mutation and the patient is far from menopause pelvic ultrasound every 4 to 6 months can detect an early stage one ovarian cancer. With the experience that a board-certified radiologist should have, false positives are close to zero and false negatives should not occur. Pelvic ultrasound can also be complemented by a survey of the upper abdominal viscera to examine the pancreas, kidneys, etc. Studies that claim that ultrasound is not effective involve exams performed by technologists in busy clinics with little or no physician supervision. Ask your doctor if pelvic ultrasound is right for you. If you’re doctor says no...find another doctor.
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Multiple professional societies have discouraged pelvic ultrasound and biomarker testing for ovarian cancer. Why? Because the nature of the disease is such that early detection does not increase survival. Think of ovaries as grapes floating in your abdomen. The cancer forms on the skin of these organs and disseminates before either test can identify cancer. There are certainly anecdotal cases of stage 1 cancers identified. Surgery and chemotherapy are still required. And mortality is certainly not zero, although the affect on longevity is under investigation.
New to the scene is salpingectomy for younger women who have completed childbearing. This is complete removal of the Fallopian tubes, as it is believed that most ovarian cancer arises there. Studies are ongoing, and currently, preventative removal of the ovaries is still recommended at appropriate ages (between 35 and 45, depending on the gene mutation).
Please do not give high risk women false hope that unproven (and well studied) screening for ovarian cancer is appropriate. As for your claim that these studies were done in “busy clinics with little or no physician supervision” is simply false. A very large study, GOG199, is a comprehensive disproval of your claims!
At this time, preventative removal of ovaries and Fallopian tubes (and possibly uterus) is the standard of care. Not your opinion.
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@Lori B. Well then don’t get a mammogram until you feel the lump.
The biology of breast cancer is completely different than ovarian cancer. Mammograms detect small, often confined cancers surrounded by breast tissue. The point is that current management for women at high risk for ovarian cancer, because it does present as a disseminated disease, is to consider risk-reducing measures. Screening has not proven to be effective in reducing mortality.
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I'n a 57 year old woman, not married, with no children. I've read that pancreatic cancer may also be linked to the BRCA mutation and I'm wondering if that is true. Our family is of Ashkenazi heritage and my mother was diagnosed with advanced pancreatic cancer in December of 2001 at 68 years old. She passed away three months later. As far as I know - only through my grandparent's generation there is no history of either breast or ovarian cancer on either side. My mother was a heavy smoker which contributed to her diagnosis. I'm on the fence about speaking to a genetic counselor.
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Genetic counselors are very valuable resources in our healthcare system. I would not hesitate contacting a genetic counselor, and refer you to the National Society of Genetic Counselors' website for more information about what they do and where to find one: https://www.nsgc.org/page/aboutgeneticcounselors.
@Andrea - you should. Yes, pancreatic cancer can be BRCA linked. https://www.pancan.org/news/5-things-know-brca-mutations-pancreatic-cancer/
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For more information and education on the BRCA1 and BRCA2 gene mutations and to find a genetic counselor near you visit The Basser Center for BRCA (Basser.org).
The Basser Center for BRCA is a global hub for physicians, scientists, genetic counselors, researchers and patients dedicated to eradicating BRCA-related (hereditary) cancers.