In this informative webchat, Duke Cancer Institute’s gynecologic oncology expert Angeles Secord, MD and patient advocate Katya Lezin discuss the rapidly changing field of genetic testing in ovarian cancer.. Dr. Secord discusses what genetic testing can mean for you and your family and answers your questions on genetic testing. Following Dr. Secord’s discussion and Q&A session, Katya Lezin, patient advocate and ovarian cancer survivor, shares her experience as a BRCA positive ovarian cancer survivor.
BRCA gene mutations tend to be associated with breast cancer as this is where the mutation was first discovered. However, scientific evidence is building around the role that BRCA mutations play in many cancers.. Knowing a BRCA mutation status can help proactively inform a person’s cancer risk as well as familial risk. As part of AstraZeneca’s commitment to help improve the outcomes of cancer patients worldwide, we believe it is vital to ensure that the latest scientific understanding is made as clear and accessible as possible, to help ensure it is adequately reflected in the real-world diagnosis and care of people with cancer.
We were LIVE with Dr. Akiko Chiba as she discussed BRCA1 and BRCA2 gene mutations. #BreastCancerAwareness. Find Us: Wake Forest Baptist Medical Center. 1 Medical Center Blvd. Winston-Salem, NC 27103. Schedule an Appointment: 336-716-WAKE (9253). Connect With Us! Facebook ► http://www.fb.com/wakehealth. Twitter ► http://twitter.com/wakehealth. Wake Forest Baptist Health ► http://www.wakehealth.com. Wake Health Jobs: http://twitter.com/wakehealthjobs
Leslie Ries, a breast cancer survivor, shares her story and how she learned through genetic testing that she carried the BRCA 1 gene mutation.. Being Jewish can put you at high risk for breast cancer. Jewish women and men of Eastern European descent (Ashkenazi Jews) often have a higher percent of the protein BRCA1 and BRCA, which went damaged, does not perform their proper function.. Learn more at: http://www.hopkinsmedicine.org/kimmel_cancer_center/centers/breast_cancer_program/index.html
Check out: aclu.org/genepatents. Association for Molecular Pathology v. Myriad Genetics: This case involves a challenge to patents on two human genes known as BRCA1 and BRCA2. Mutations in those genes correlate with an increased risk of breast and ovarian cancer. On behalf of a large coalition of research scientists, patients, and patient advocacy groups, we have argued that human genes cannot be patented because they are classic products of nature.. The case goes to the U.S. Supreme Court on April 15th.. Find out more: aclu.org/genepatents. Transcript: Not many people who have cancer, their cancer could have been prevented. I have advanced stage ovarian cancer that could have been prevented. My name’s Kathleen Maxian. My prognosis is that I have a 20% chance of living for five years. I remember the day that I got the call from my gynecologist. He said to me, “Oh, honey, you have ovarian cancer.” After my surgery… Dr. duPont says to me, “Kathleen, after your surgery, your mother mentioned that your sister had breast cancer.” And I said, “Oh, yes, but our cancer isn’t genetic, because she had the testing, and the testing was negative.” And I will never forget that she put her head down and she looked back up at me and she said, “We’d like to see a copy of the tests.” BRCA1 and BRCA2 are two genes that when mutated or changed increase the likelihood that women will develop breast and ovarian cancer. The genes were found using many different researchers, but they were patented by Myriad Genetics in the mid-1990s. Many laboratories in the United States were offering BRCA1 and 2 testing. When Myriad Genetics began cracking down and closing labs, no one else could offer the test. When a patent comes to mind, you think of a new invention. There was nothing new about what they were doing. But the comprehensive testing that they’ve developed looks for mutations within BRCA1 and 2. I believed that the test that my sister got was a comprehensive test. This is the gold standard of genetic testing, it’s only done at this one lab, and it comes back, and it’s negative. And everybody in our family kind of goes, “Whew,” you know? But what we learned in the late 1990s, early 2000s, is that “comprehensive BRAC analysis” was missing mutations in some families. I contacted Myriad Genetics and asked them if we could offer a test for our patients who tested negative, but in whom we really suspected we were missing something, and we were told, “Absolutely not. It’s a patent violation.” And Myriad, after many years, developed BART testing to hopefully pick up those patients. Kathleen’s sister didn’t meet the high risk criteria to be included in Myriad’s BART analysis for free. And her genetic counselor said, “Okay, because your sister has ovarian cancer now, you meet the criteria.” Her genetic counselor tested her, and the result was positive. Unfortunately, in that family, the mutation fell in the BART region. I’m like, “What? “What is goingWhat do you mean? What do you mean it’s positive?” Like, and if she had had that two years ago, it would have been a no-brainer for me to have a hysterectomy. I think that this patent, which has jacked up the prices and made testing more difficult in many circumstances, may be preventing hundreds or even thousands and thousands of people from learning that they’re at high risk for these terrible diseases. I feel like thisthat cancer has taken over my life. And…and… I live in fear every single day. I would love for them to say, “This is bigger than us. “Let’s get rid of the patent. Let’s let other people get involved in this.” [gentle acoustic music]
Hey friends, sharing my brca results, my recent blood work and what its like having the brca2 gene mutation. I found out I had this gene through simple blood work ordered by my doctors. I wanted to share what it is, how my life has changed and what I do to stay proactive! Connect with me here. https://www.instagram.com/officialnataliecorona/
These Sisters Share Everything—Except the BRCA2 Gene Mutation Sisters Jenny Wikoff, 39, and Julie Buchanan, 37, have done everything together since their childhood in New Jersey. But three years ago, their paths diverged when Jenny tested positive for the BRCA2 gene mutation. Two of us: sisters with a BRCA gene mutation Sisters Rachelle (39) and Corinne (35) Gebert knew their father’s mother had died from breast cancer but didn’t know they were at an increased risk of developing the disease until their father tested positive to the BRCA2 gene mutation.
“So for a woman who has a BRCA1 gene mutation, we usually talk about having the ovaries and the fallopian tubes removed between 35 and 40. And then for a woman who has a BRCA2 gene mutation, we usually talk about having them removed between 45 and 50.”. BRCA1 and BRCA2 gene mutations are linked to the development of breast cancer, ovarian cancer and other types of cancer. Genetic testing and counseling services can determine whether a person carries these mutations and, if they do, how the information could help inform cancer prevention or treatment decisions. The family was at a loss.
Two sisters with breast cancer in their 30s is unfortunate, but three sisters had to be more than mere bad luck. At that point, a doctor urged the family to get genetic testing. They discovered all five Kimball sisters share a mutation of the BRCA gene passed down through their father’s side. About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene.
If either your mother or your father has a BRCA1 or BRCA2 gene mutation, you have a 50% chance of having the same gene mutation. Some groups are at a higher risk for a BRCA gene mutation than others, including women with Ashkenazi Jewish heritage. WHO: Your parents, siblings, and children are the family members who are most likely to have the same BRCA1 or BRCA2 mutation that you do. Other blood relatives, such as aunts, uncles, nieces, nephews, and cousins, are also more likely to have the mutation.
BRCA1 and BRCA2 are genes that code for tumor suppressor proteins. BRCA gene mutations may cause the body to build or fold these proteins incorrectly. This.
In addition to BRCA1 and BRCA2 gene mutations, some of these include mutations in ATM, PALB2, PTEN, CDH1, CHEK2, TP53, STK11, PMS2, and more. Let’s look at how important these non-BRCA1/BRCA2 mutations are in familial breast cancer, and some of the characteristics of those more commonly found. Three days after starting her new job at Healthline back in 2015, Sheryl Rose found out that her sister had breast cancer.
List of related literature:
BRCA1 and BRCA2 mutations can be inherited from maternal or paternal gene lines.
Mutations in BRCA1, BRCA2, and less commonly the genes responsible for HNPCC/Lynch syndrome, are responsible in a proportion of these families, but a susceptibility gene locus for sitespecific ovarian cancer has not been identified.
As for the RB genes, BRCA2 affected mutation persons and then inherit experience one copy of a a somatic 1 BRCA and products 1 APC or loss of the remaining normal allele in one or more cells (following the two-hit RB1 and model APC, for tumor suppressor genes).
from Medical Genetics E-Book by Lynn B. Jorde, John C. Carey, Michael J. Bamshad Elsevier Health Sciences, 2009
These include the downstream genes of the FA/BRCA pathway, FANCD]: BRCA2, FANCN: PALBZ, FANCJ: BRIP] and FANCO: RAD5]C. BRCA2 is considered a high-penetrance breast cancer susceptibility gene with heterozygous mutations increasing the risk more than tenfold.
In addition, endometrial carcinoma frequently occurs in patients with hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome II), suggesting that inactivation of a common gene may participate in the development of both endometrial and colonic carcinomas.
Recombination occurs between homologs rather than sisters.
from Cell Biology E-Book by Thomas D. Pollard, William C. Earnshaw, Jennifer Lippincott-Schwartz Elsevier Health Sciences, 2007
The BRCA1 and BRCA2 gene products complex with Rad51 and other proteins involved in repair of double-stranded DNA breaks (DSBs) by homologous recombination (175,176).
Kutluk Oktay, MD, FACOG is one of the world's foremost experts in fertility preservation as well as ovarian stimulation and in vitro fertilization for infertility treatments. He developed and performed the world's first ovarian transplantation procedures as well as pioneered new ovarian stimulation protocols for embryo and oocyte freezing for breast and endometrial cancer patients.
Life; one of man’s inalienable rights is directly threatened by these sorts of patents that seek to make $ on illnesses & procedures that they didn’t create, and have ABSOLUTELY NO right to claim.
Patents are essentially glorified DIBS. These tests weren’t created by them, or exclusively used by them. They were just the 1st to call dibs. NOW they can legally inflate the price shoddy testing that is not accurate, AND prevent others from doing a better job. GO USA!
on reps who try to get doctors to prescribe their drugs over their competitors, and I don’t think medication is an area where persuasion on any basis other than effectiveness, in conjunction with consideration as to side effects, and lastly, cost to the patient should be a part of the decision making process doctors use to determine which ones to prescribe to their patients. Also, the FDA is in bed with PHARMA, & their decisions reflect this, which means less protection for the consumer.
What’s wrong with finding out what mutates these gene’s? Is it possible that the genetic material in vaccines is part of what makes a gene mutate? Is it possible that there are specific radiation levels that make genes mutate….Lets figure out what makes the genes mutate.
Hi Natalie, You made me smile,love your can do attitude. I have the same gene,just finished my radiotherapy after chemo and lumpectomy. Thanks for sharing the details in your tests etc. I was wondering what will happen going forward. Pray tou never have to go through it. Much love!!
Healthcare and capitalism are at direct odds with one another.
One seeks to save lives and control cost, and the other seeks to maximize profits. The end goal of these two things are so incongruous that anyone who says that capitalism will naturally fix the problems with healthcare (advancements in science, price gouging by hospitals/pharm. COs) by creating competition is seriously an idiot. Like seriously. Capitalism does not care about lives, only annual profits.
Thank you for this informative video! I am BRCA1 positive, my mother passed away from ovarian cancer 3 years ago at the age of 59. A lot of the things you get checked, we do not get checked here in the Netherlands, so I’m a bit surprised! But it does sound very interesting and I’m curious why we have different guidelines here than in the US.
I have always been told that screening for ovarian cancer is ineffective (the ultrasound and CA125). I haven’t heard about vitamin D! Another advice that’s different from the Netherlands is the one about taking birth control. They told me that taking birth control with hormones heightens your chance on breast cancer but it does diminish your chance on ovarian cancer a bit. But taken together, they don’t recommend using birth control with hormones over 25. Which ones are you using exactly?
The only tests I get done every year is an MRI (and an additional mammography from the age of 30) of my breasts. The guideline here is to remove your ovaries (but not your uterus) by the age of 35-40 for BRCA1+ and between 40-45 for BRCA2+. They don’t have strict guidelines for removing your breasts, because of what you said: they can treat it much better. But they do recommend it.
There is an international facebook group for BRCA1/2 carriers where they share information and experiences: “BRCA1 or BRCA2 Genetic Ovarian & Breast Cancer Gene”.
Yes, sadly, all the evidence I have seen indicates that last thing the evil drug companies not want to do is discover cures, but instead just want to find ways for customers to be reliant on taking medications, for life. I have even read and heard credible information that they will buy possible cures, & shelve them, so that cure cannot make their daily medications obsolete. Yep, they really are that evil. Makes my blood boil. Wondering when the people r ever gonna get a clue and say, No more!”
I think it’s time we turn our focus from cancer “awareness” (seriously, we are all aware of it) to situations like this. I understand why patents exist, but this is a matter of ethical corporate behavior.
This is an incredibly important issue, yet this video has 14,000 views or so… yet Beyonce’s pepsi advert already has 4 million odd views… and there in lies the problem. This is why society doesn’t clamor for change.. they don’t know or don’t care… and the powers that be are quite happy to keep it that way…
I recently found out I have the BRCA 2 gene this past year. I’m the first in my family to get tested. My mother had breast cancer 5 years ago she’s a survivor. However, her younger sister die from it at the age of 40 (2 years ago). No one else in my family has been tested and I don’t personally know anyone else who has it. Thanks for sharing your story!
It’s still amazing to be that simple human progress towards curing disease and preventing suffering is not only indirectly but now overly being deliberately held back by corporate greed the fact that they’re throwing wads and wads of cash in the face of our law makers.
There is a reason why they have far more lobbyists than any other industry, I could go on & on about their evil ways. Like, why do they have an army of sales people who ply doctors w/ expensive lunches, iPads, iPhones, vacations 2 exotic & very desirable locales, etc., etc., etc. Cause aren’t medications something that a dr should prescribe solely based on which 1 is best (most effective, and safe, and affordable.) 4 their patient, as opposed 2 which company’s rep has buttered them up the best?
Well said Kittee
Life; one of man’s inalienable rights is directly threatened by these sorts of patents that seek to make $ on illnesses & procedures that they didn’t create, and have ABSOLUTELY NO right to claim.
Patents are essentially glorified DIBS. These tests weren’t created by them, or exclusively used by them. They were just the 1st to call dibs. NOW they can legally inflate the price shoddy testing that is not accurate, AND prevent others from doing a better job. GO USA!
on reps who try to get doctors to prescribe their drugs over their competitors, and I don’t think medication is an area where persuasion on any basis other than effectiveness, in conjunction with consideration as to side effects, and lastly, cost to the patient should be a part of the decision making process doctors use to determine which ones to prescribe to their patients. Also, the FDA is in bed with PHARMA, & their decisions reflect this, which means less protection for the consumer.
What’s wrong with finding out what mutates these gene’s? Is it possible that the genetic material in vaccines is part of what makes a gene mutate? Is it possible that there are specific radiation levels that make genes mutate….Lets figure out what makes the genes mutate.
Hi Natalie, You made me smile,love your can do attitude. I have the same gene,just finished my radiotherapy after chemo and lumpectomy. Thanks for sharing the details in your tests etc. I was wondering what will happen going forward. Pray tou never have to go through it. Much love!!
Healthcare and capitalism are at direct odds with one another.
One seeks to save lives and control cost, and the other seeks to maximize profits. The end goal of these two things are so incongruous that anyone who says that capitalism will naturally fix the problems with healthcare (advancements in science, price gouging by hospitals/pharm. COs) by creating competition is seriously an idiot. Like seriously. Capitalism does not care about lives, only annual profits.
Thank you for this informative video! I am BRCA1 positive, my mother passed away from ovarian cancer 3 years ago at the age of 59. A lot of the things you get checked, we do not get checked here in the Netherlands, so I’m a bit surprised! But it does sound very interesting and I’m curious why we have different guidelines here than in the US.
I have always been told that screening for ovarian cancer is ineffective (the ultrasound and CA125). I haven’t heard about vitamin D! Another advice that’s different from the Netherlands is the one about taking birth control. They told me that taking birth control with hormones heightens your chance on breast cancer but it does diminish your chance on ovarian cancer a bit. But taken together, they don’t recommend using birth control with hormones over 25. Which ones are you using exactly?
The only tests I get done every year is an MRI (and an additional mammography from the age of 30) of my breasts. The guideline here is to remove your ovaries (but not your uterus) by the age of 35-40 for BRCA1+ and between 40-45 for BRCA2+. They don’t have strict guidelines for removing your breasts, because of what you said: they can treat it much better. But they do recommend it.
There is an international facebook group for BRCA1/2 carriers where they share information and experiences: “BRCA1 or BRCA2 Genetic Ovarian & Breast Cancer Gene”.
Thanks again! ❤
Yes, sadly, all the evidence I have seen indicates that last thing the evil drug companies not want to do is discover cures, but instead just want to find ways for customers to be reliant on taking medications, for life. I have even read and heard credible information that they will buy possible cures, & shelve them, so that cure cannot make their daily medications obsolete. Yep, they really are that evil. Makes my blood boil. Wondering when the people r ever gonna get a clue and say, No more!”
I think it’s time we turn our focus from cancer “awareness” (seriously, we are all aware of it) to situations like this. I understand why patents exist, but this is a matter of ethical corporate behavior.
This is an incredibly important issue, yet this video has 14,000 views or so… yet Beyonce’s pepsi advert already has 4 million odd views… and there in lies the problem. This is why society doesn’t clamor for change.. they don’t know or don’t care… and the powers that be are quite happy to keep it that way…
I recently found out I have the BRCA 2 gene this past year. I’m the first in my family to get tested. My mother had breast cancer 5 years ago she’s a survivor. However, her younger sister die from it at the age of 40 (2 years ago). No one else in my family has been tested and I don’t personally know anyone else who has it. Thanks for sharing your story!
It’s still amazing to be that simple human progress towards curing disease and preventing suffering is not only indirectly but now overly being deliberately held back by corporate greed the fact that they’re throwing wads and wads of cash in the face of our law makers.
There is a reason why they have far more lobbyists than any other industry, I could go on & on about their evil ways. Like, why do they have an army of sales people who ply doctors w/ expensive lunches, iPads, iPhones, vacations 2 exotic & very desirable locales, etc., etc., etc. Cause aren’t medications something that a dr should prescribe solely based on which 1 is best (most effective, and safe, and affordable.) 4 their patient, as opposed 2 which company’s rep has buttered them up the best?