Twenty Years after BRCA Discovery, Progress in Prevention and Early Detection

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By Andrea Peirce

Pictured: Kenneth Offit

Clinical Genetics Service Chief Kenneth Offit

To commemorate the 20th anniversary of the discovery of the BRCA1 gene, Kenneth Offit, Chief of Memorial Sloan Kettering’s Clinical Genetics Service, revisited last year’s Q&A on BRCA testing and cancer risk. See our updates and information on the latest advances in genetic testing below.

Actress Angelina Jolie ignited a national dialogue on breast cancer risk and genetic testing in May 2013 with an op-ed in the New York Times, in which she described her choice to undergo a preventive double mastectomy after learning she carries a mutation in a gene called BRCA1.

Certain inherited gene mutations are associated with an increased risk of breast and ovarian cancer. BRCA1 was first discovered 20 years ago; BRCA2 followed later. BRCA1 and BRCA2 mutations both are more common among people of Eastern European (Ashkenazi) Jewish ancestry. Memorial Sloan Kettering cancer geneticist and medical oncologist Kenneth Offit led the research team that identified the most common mutation in BRCA2, observed in those of Ashkenazi heritage.

Today, testing is available for mutations in BRCA2, as well as in BRCA1 and in other genes that have been linked to an increased risk for breast and ovarian cancer. Women can use the results of such genetic tests to make informed decisions — such as whether to surgically remove the breasts (preventive mastectomy) or ovaries (preventive oophorectomy) — to reduce their cancer risk.

In an interview, Dr. Offit notes that there have been great strides in prevention and early detection of breast cancer since the BRCA1 and BRCA2 mutations were identified. He encourages women and their families to take these factors into consideration when weighing their options.

Who should undergo genetic testing for breast cancer?

It’s very important that women speak to their physicians if they have a personal history of breast cancer or close relatives who have had breast, ovarian, or prostate cancer, or some other types of cancer. Other strong risk factors include having had breast cancer at an early age (before age 50), having both breast and ovarian cancer, having a male relative with breast cancer, and being of Eastern European Jewish ancestry. In addition all women with a personal history of ovarian cancer — regardless of their family history — should have BRCA testing.

While a significant number of women with breast cancer have a family history of the disease, only a small number may be advised to get genetic testing. Only about 5 to 10 percent of women with breast cancer will have an inherited risk of the disease due to BRCA mutations or other mutations.

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What is involved in getting tested?

Genetic testing is not just a blood test — it’s a process of genetic counseling that often involves the family. We like to see individuals with their sisters, their mothers, their significant others, both as a support and to enable women and their family members to make mutual decisions about screening and prevention.

Women meet with a genetic counselor to review all the options available should a test turn out to be positive, and also visit with a doctor to go over their family history of cancer and other risk factors in more detail. Only at that point is the actual test given (if a woman chooses to have it). Results take a few weeks to come back.

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What kind of information does genetic testing provide to women and their families?

If a woman tests positive for a BRCA mutation, she is not only at increased risk for breast cancer but also at increased risk for ovarian cancer. In fact, while the BRCA test is named after breast cancer, it is the ovarian cancer risk that we pay close attention to because we don’t have a means to screen for ovarian cancer to find it early, when it’s potentially curable.

When we first started doing genetic testing, we were very concerned about the negative impact that results might have. But we have found that genetic testing is in fact a very empowering experience both for women and their families, as there are now proven means for prevention and detection of some of the associated cancers.

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If a genetic test shows that a woman has an increased risk for breast or ovarian cancer, what are her options?

There are at least three options available upon testing positive for BRCA mutations. Surgery is one of them, and it’s the most effective means of breast cancer prevention. And while the surgical option for breast cancer is just that — an option — we strongly recommend surgical removal of the ovaries to reduce the risk of ovarian cancer for women who no longer expect to have children.

Doctors at Memorial Sloan Kettering and other hospitals now have a very powerful means of screening for cancerous changes in the breast with magnetic resonance imaging, or MRI, which is more precise than mammography in finding early breast cancers. While most women in the United States choose screening over surgery, this is a discussion that needs to be individualized.

In addition, we can offer preventive treatment with drugs such as tamoxifen that for some women can cut the risk of breast cancer in half.

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Do you foresee any new advances in genetic testing for breast or ovarian cancer?

Up until now, we have only been able to tell a woman who tests positive for a BRCA mutation that her risk for developing cancer ranges from 40 to 90 percent. But over the last several years, researchers at Memorial Sloan Kettering and elsewhere have discovered that there are genetic variations that will allow us to more closely pinpoint this risk. We hope to make these more-precise testing options available to women as part of our continued research.

Another research study now open at Memorial Sloan Kettering involves testing for genes other than BRCA1 and BRCA2 in women with family histories of breast and/or ovarian cancer who have already tested negative for BRCA1 and BRCA2. In this study we offer a “panel” of tests for other genes (for example PALB2, CHEK2, etc.) that have more recently been discovered, and about which little is known regarding preventive care that is required.  Individuals have the option in this study to get results only on genes they wish to learn about. As part of this research, there is no cost for the testing. Eventually, we anticipate that these “panel” tests will be more widely available and covered by insurance.

Finally, as part of longer-term research, we are also using next-generation DNA sequencing to discover new genes associated with hereditary risk for breast or ovarian cancer.

To make an appointment with our Clinical Genetics Service, call 646-888-4050.

To make an appointment with one of our breast cancer specialists, call 646-497-9064.

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Comments

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Sandy May

May 16, 2013 • 10:37 AM

I have been diagnosed with breast cancer and now I have mets. I am triple negative. I was wondering about any research or clinical trials that have helped with my type of breast cancer. I am really interested to see if any research is being done on triple negative. Thanks for your time.

Sandy May

May 16, 2013 • 10:38 AM

I need to clarify I have bone mets. Thanks

Mary Byrnes

May 29, 2013 • 7:36 PM

I am wondering if it would be a good decision to get genetic testing or the blood test for breast cancer. My father's mom, died 50 years ago at the age of 47 of breast cancer. Your feedback would be appreciated.

Catherine Sinopoli

May 31, 2013 • 8:44 PM

I recovered from ovarian cancer 13 years ago. Had a genetic test and was told I was negative for BRACA 1 and 2 and that the ovarian cancer was just a fluke.
I was also informed my two daughters didn't carry the gene if I didn't. Is that correct in your opinion? They are in their early fifties and I was 63 when I was diagnosed. We are all well.

Memorial Sloan Kettering

Jun 1, 2013 • 9:41 AM

Catherine, it is true that if you do not carry the genes, your daughters could not inherit them from you, but it is still possible they could have inherited them from their father, if his family has a history of these cancers. If you would like to learn more about hereditary cancers and our Clinical Genetics Service, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics. Thank you for your comment.

Liz McCraw

Jun 10, 2013 • 4:25 PM

What advice is there for women who receive a VUS result (Variant of Uncertain Significance) on their BRCA test? After my Breast Cancer diagnosis (Stage 0, unilateral mastectomy) I was tested & shown to have a VUS on my BRCA-1 that has only appeared in 4 other cases. It is assumed that I inherited the mutation from my father who died of Pancreatic Cancer before my Breast Cancer diagnosis (my mother was tested & does not have any mutations). I was also analyzed for the other non-BRCA ovarian tests & tested negative for those.

Suzanne Keay

Jun 10, 2013 • 6:37 PM

My brother recently died from pancreatic cancer. Is that a cancer linked with these genes?
Also, does insurance cover genetic testing?

Memorial Sloan Kettering

Jun 10, 2013 • 6:48 PM

Suzanne, we are sorry for the loss of your brother. A small percentage of pancreatic cancers are hereditary, but most of them occur due to chance. If you would like to speak to someone in our Clinical Genetics Service more about your family history, you can call 646-888-4050 or go to http://www.mskcc.org/cancer-care/hereditary-genetics. Insurance plans vary, so you would need to check with your insurance company about what testing would be covered. Thank you for your comment.

AuntieL

Jun 10, 2013 • 6:56 PM

My grandmother, mother and several females on my great grannie's side have all had breast cancer and a couple have had more than one bout or type. My mom has had breast cancer twice and ovarian cancer once. I had a lumpectomy in my 30's (50's now) and since then keep close track on it, always get my yearly mammo, do the self checks but I've been wondering if I should ask to be gene tested. I never knew my dad so that side of the family is a total black hole. Would it be worth it and will medicare cover it?

Memorial Sloan Kettering

Jun 10, 2013 • 7:02 PM

AuntieL, if you would like to learn more about our Clinical Genetics Service, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics. Families that have people in multiple generations with the same kind of cancer are more likely to carry a hereditary gene, so you may want to discuss being tested with one of our genetic counselors. They should also be able to advise you about insurance coverage. Thank you for your comment.

Laura

Jun 10, 2013 • 7:12 PM

I test positive for BRACA 1, had ovarian cancer 12 years ago-stage 3c, breast cancer 6 years ago stage 1, triple negative and have just finished treatment for a recurrence of ovarian cancer. I was told there were options in addition to chemo but my oncologist hasn't presented that option yet. What about Parp inhibitors for me?

Lori

Jun 10, 2013 • 7:40 PM

my mother died of osteosarcoma of the rib cage(age 71)...is there genetic testing for that at this time?

Memorial Sloan Kettering

Jun 10, 2013 • 10:59 PM

Lori, for most types of cancer, only about 5-10% are hereditary, and the rest are due to chance. If you would like to learn more about hereditary cancers and our Clinical Genetics Service, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics. Thank you for your comment.

Gail Srebnik

Jun 10, 2013 • 9:06 PM

I am of Eastern European Jewish ancestry. I was diagnosed with triple negative breast cancer in 2006. I was then diagnosed with CLL in 2008. At that time I had the BRCA testing which was negative. No breast cancer in my family but my dad died from Colon Cancer. I have had polyps removed and now it has been suggested I get tested for Lynch Syndrome. Are all these factors indicative of Lynch?

Judith Quinn

Jun 11, 2013 • 12:07 AM

I have ovarian cancer ( Stage IIIc), and I have been in remission for five years. Why would it be important for me to be tested? I don't have any children. If it would contribute to a body of research information that would lead to a cure or at least earlier detection I would certainly do it. How much does it cost? Thank you for disseminating this information.

Sonnie Grossman

Jun 11, 2013 • 1:41 AM

I was diagnosed with ovarian cancer in June 2011 stage 4. My
mother died of ovarian cancer when she was 65 and also had
color cancer. I am of Eastern European ancestry but tested negative
to the BRCA-1 and BRCA-2 tests. Are there other genes that have
been identified with ovarian cancer?

Memorial Sloan Kettering

Jun 11, 2013 • 8:38 AM

Sonnie, there can be families that are found to have a history of certain cancers who do not test positive for any known cancer-related genes. However, it’s important to remember that with most types of cancer, only 5-10% are inherited, and the rest occur by chance. If you would like to learn more about our Clinical Genetics Service, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics. Thank you for your comment.

Sonnie Grossman

Jun 11, 2013 • 12:41 PM

I believe there are other genes involved in ovarian cancer than just
the BRAC-1 & 2. Would appreciate knowing about this when there is
more research.

Maria Giardelli

Jun 11, 2013 • 5:09 PM

I received radiation therapy to my neck for a tumor when I was a child. Am I prone to either thyroid or breast cancer?

Victoria

Jun 14, 2013 • 4:24 PM

My grandmother on my mom's side passed away from infamatory breast cancer. my mohter's baby sister passed at the age of 40 from breast cancer. Now my sister who is 47 years old has been diagnosed and being treated for breast cancer. She also has been tested and does have the genetic gene. I am 53 years old and am wondering if I should be tested genetically?

Memorial Sloan Kettering

Jun 14, 2013 • 4:31 PM

Victoria, unfortunately we are not able to offer personal medical questions on our blog. If you would like to speak with one of our genetic counselors about being tested, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics for more information. Thank you for your comment.

Julie Salyers

Jun 17, 2013 • 6:17 PM

I have a concern for a group of people who are being excluded from this testing. I am adopted, therefore I do not have a history available to me. (leaving me more in the dark than others) I have had this viewed as I DO NOT have any history as opposed to Unknown. It concerns me that my next generations will be at a loss because I was adopted.

Memorial Sloan Kettering

Jun 18, 2013 • 10:08 AM

Hi, Julie, we forwarded your comment to Dr. Offit, who said, “We see adopted individuals commonly. There is no one-size-fits-all answer as each case is approached individually in terms of personal medical history, what little if anything is known about biological parents, etc. In some instances, we have done testing in the absence of known family history, for example, and insurers have been willing to consider this.” If you would like to learn more about clinical genetics at Memorial Sloan-Kettering, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics. Thank you for your comment.

Carol Keegan

Jun 22, 2013 • 11:09 AM

I am 5 years post Br ca ductal gr. 2 which both my mom and aunt had and they both had ovarian, they are both deceased. They say at my cancer clinic I will be discharged this summer. I am nervous about that I have been on letrozole for blocking the Estrogen and I am to stop what are your thoughts on that. And if I have to stop what can I do to help keeping healthy or I should say cancer free. Thankyou for your advise.

Carol Keegan

Jun 22, 2013 • 11:12 AM

I had genetic studies done my mom had BRCA 1 her sister was to afraid to get tested,I think she had the gene as well. I tested negative at the first time and then when I was diag. they tested me for both BRCA 1&2 and still had the variant like the lady above.

Sandy

Jun 28, 2013 • 11:32 AM

I was diagnosed with stage IIIc ovarian cancer in 2005. I had a total hysterectomy with debulking and chemotherapy; I had a recurrence (tumor close to diaphram) 2 years later. Laproscopic removal of the tumor and chemotherapy; Five years later I had a recurrence (3 tumors - close to diaphram and top of colon), laproscopic removal of tumors and chemotherapy.
I completed chemotherapy recently. I have no children, a sister and a niece. My maternal grandmother MIGHT have had ovarian cancer, no one talked about it and there is no one left to ask now. What would the benefits of BRAC testing for me with this history? Thank you.

Adina Tarshish

Jul 2, 2013 • 6:32 PM

I've been reading that trans-vaginal ultrasounds can detect ovarian cancer at its earliest stage, and that the reason women keep dying of ovarian cancer is that we can't detect it soon enough. I know women who have died of ovarian cancer. Why don't we recommend women get trans-vaginal ultrasounds yearly just like we recommend mammography? A number of false positives is a very small price to pay for thousands of lives that could be saved.

Memorial Sloan Kettering

Jul 3, 2013 • 10:22 AM

Adina, we sent your question to Richard Barakat, Chief of our Gynecology Service, and this was his response, “Unfortunately there is no known effective screening method for ovarian cancer that has been confirmed by large clinical trials. A patient can have a normal transvaginal sonogram one month and then present with advanced ovarian cancer a few months later. We continue to actively explore methods to detect ovarian cancer earlier. We hope to determine markers in the bloodstream that can lead to earlier detection. Until that time, women should see their gynecologists on a regular basis and report any persistent changes in symptoms including nausea, abdominal bloating, urinary or gastrointestinal symptoms, or pain.” Thank you for your comment.

Adina Tarshish

Jul 3, 2013 • 10:32 AM

Thanks for your response. What about a monthly jelly-on-the-belly sonogram for women at high risk? Would that not catch this cancer at earlier stages?Also, what would be the effect of prescribing 5 years of birth control pills for 15-year-old girls with strong family history of these cancers?

Memorial Sloan Kettering

Jul 3, 2013 • 11:55 AM

Adina, for more information about ovarian cancer screening, you might find it useful to read our screening guidelines for ovarian cancer. You can find them here: http://www.mskcc.org/cancer-care/screening-guidelines/screening-guideli…. If you would like to speak to someone at Memorial Sloan-Kettering more about hereditary cancer and individual risk, please call our Clinical Genetics Service at 646-888-4050. Thank you for your comment.

Sarah Bialik

Jul 15, 2013 • 9:25 PM

My sister was diagnosed with ovarian cancer last year.As far as I know she is the only one in my family tree that has had ovarian cancer.I am 49 and have been having a foew female health issues.I will be going to the Dr. soon should I ask to be BRAC tested?
Thank you

Hillary Sutherland

Oct 21, 2013 • 10:34 AM

Hello,

I am 23 years old but have a very high risk of breast cancer in my family. Every woman on my mother's side has had breast cancer except for my mom, up to date. I am having the BRAC Analysis done in December to determine whether or not I am positive for the gene. I am supposed to have a mammogram when I turn 25, but if I am positive for the gene I will have one done immediately. Any advice on treatment options and next steps for me if I do have the breast cancer gene?

Thank you

Barbara Z

Nov 1, 2013 • 2:54 PM

I had Stage one breast cancer that was successfully removed with no spread and BRAC negative. Was about to do radiation and pills to limit estrogen reception (chemo not necessary) to reduce the risk of new or recurrent breast cancer. At the last moment one can delay the start of radiation, genetic test result came in showing CHEK2 positive. CHEK2 doubles or more the risk of developing breast cancer. Two questions: 1. Does the CHEK2 risk for a second cancer after one breast cancer has occured: decrease, stay the same, or increase? 2. Is there any studies - published or unpublished - as to how pills that block estrogen positive breast receptors work with the CHEK2 mutation: no effect, increase effectiveness, or decrease the blocking effect?

Have to make a decision in a few days as to whether to have radiation and these pills (no chemo needed) or double mastectomy. Your information will help. Thanks

Memorial Sloan Kettering

Nov 1, 2013 • 3:02 PM

Hi Barbara, we are not able to answer individual medical questions on our blog. We recommend you speak with your doctor more about this. You might also want to call the National Cancer Institute’s Cancer Information Service at 800-4CANCER. If you’d like to speak with a doctor at MSKCC, you can call 800-525-2225 or go to http://www.mskcc.org/cancer-care/appointment for more information on making an appointment. Thank you for your comment.

Sharon Murphy

Jan 15, 2014 • 7:05 PM

Under what circumstances do you test BRCA negative breast cancer patients for CHEK2 mutations? What lab do you use? If a breast cancer patient of polish ancestry shows a pathology report similar to current breast cancer tumor pathology reports in CHEK2 positive patients in Poland would you offer testing of the CHEK2 gene?

Memorial Sloan Kettering

Jan 16, 2014 • 11:40 AM

Sharon, we forwarded your questions to one of our genetic counselors, and she said, “Additional genetic testing is available to patients who have received negative test results for BRCA1/2 mutations (eg no mutations or large rearrangements identified in BRCA1 or BRCA2) and have a personal or family history of cancer that is suggestive of a cancer predisposition syndrome. CHEK2 is one gene that is a part of some of the cancer genetic testing panels performed at commercial laboratories. We are happy to meet with you to evaluate your personal and family histories of cancer or to provide you with the contact information for a local genetics provider near your home.” For more information, please call our Clinical Genetics Service at 646-888-4050. Thank you for your comment.

Jennifer Furie

Mar 3, 2014 • 9:44 PM

I have tested positive for BRCA2 mutation. My mother and Aunt are positive but have never had cancer and are almost 70. I am 44 and premenopausal. I had a ca-125 and a transvaginal ultrasound and both were normal. Do you think it is reasonable to wait a few months to get my ovaries removed? I will have a transvaginal ultrasound every month until I take them out.

Memorial Sloan Kettering

Mar 4, 2014 • 8:10 AM

Jennifer, we are not able to answer individual medical questions on our blog. If you’d like to speak with a Memorial Sloan Kettering doctor about this, you can call 800-525-2225 or go to http://www.mskcc.org/cancer-care/appointment for more information on making an appointment. You might also want to speak with someone from our Clinical Genetics Service. They can be reached at 646-888-4050. Thank you for your comment.