Health Chats
Breast Cancer Genetics
Wednesday Sep 23, 2009, 12:00PM - 01:00PM (EST)
Department Chair and Founding Director
Cleveland Clinic
Genomic Medicine Institute, Cleveland, OH
Can your genes predict your future?<br><br> Join Dr. Charis Eng, Chairwoman and Director of the Genomic Medicine Institute at the Cleveland Clinic, for a live chat and get answers about how genetics impacts the likelihood of being predisposed to breast cancer from one of the world's foremost experts in cancer genetics.<br><br> The Genomic Medicine Institute is poised to significantly change the way we practice medicine as we know it today. It builds on current knowledge by performing ground-breaking innovative genomics (all your genes together) and focused genetic research (one or a few genes), results of which can be utilized to tailor healthcare to each individual. If they are successful, in the future it will be possible to accurately predict who is at risk for certain diseases, such as breast cancer, so that clinical screening and lifestyle changes can be instituted, and be able to choose specific drugs with the highest likelihood of response and least likelihood for side effects.<br><br> Dr. Eng is leading the charge to dramatically change the way medicine is practiced at the Cleveland Clinic. Dr. Eng grew up in Singapore and Bristol, UK, and entered the University of Chicago at the age of 16. After completing a PhD and an MD at its Pritzker School of Medicine, she specialized in internal medicine at Beth Israel Hospital, Boston, trained in medical oncology at Harvard's Dana-Farber Cancer Institute and was formally trained in clinical cancer genetics at the University of Cambridge and the Royal Marsden NHS Trust, UK.<br><br> Dr. Eng and her outstanding team analyze the links between family medical history and disease predisposition. For example, each woman in the general population in this country is at 11% lifetime risk of developing breast cancer, however if a breast cancer gene is mutated (changed or has faults), the lifetime risk of developing breast cancer can be up to 8 times as high (80%). Currently, 8 breast cancer disposition genes have been identified.<br><br> The focus of this Health Chat will be on understanding genetics and genomics and their impact on prevention and treatment of breast cancer.
Welcome to today's health chat on breast cancer genetics with Dr. Charis Eng. This chat will begin at 9 AM Pacific/12 PM Eastern, but feel fee to submit your questions now.
Welcome, Dr. Eng. Thank you for taking time to answer questions today on breast cancer genetics. We're very excited to have you here.
I was diagnosed with Metaplastic Carcinoma and am concerned that my daughter might be at risk for this same type of breast cancer.  Am I right to be concerned and where can I go for more information on this form of breast cancer?  Thank you.  pedinurse
Charis Eng, MD, PhD:
Metaplastic carcinoma of the breast usually does not have a genetic component.
I did genetic test and the result came back negative but what are the chances to have the cancer back? I did double mastactomy.
Charis Eng, MD, PhD:
It depends: usually we start testing with an affected person, and when we find the family-specific mutation then we offer single site testing to the other unaffected relatives.  This type of testing is 100% accurate.  If testing was started in an unaffected then it is less accurate and if the wrong breast cancer gene is tested, then there will be a false negative. Thus it is VITAL that testing be performed in the setting of genetics professionals.
What other cancers, besides breast and ovarian, are linked to BRCA 1 mutation?
Charis Eng, MD, PhD:
BRCA1 germline mutations are associated with breast and ovarian cancers, as well as prostate cancer in male. But for the prostate, there is not an earlier age unlike the breast and ovarian cancer risk
Do you beleive that TNBC also has a genetic predisposition?  If so how do you explain TNBC in a patient with no know family history of BC?  
Charis Eng, MD, PhD:
TNBC = triple negative breast cancer, I assume.  BRCA1/2 gene mutations are often associated with TNBC.  BUT not all (not even most) TNBC is associated with genetic breast cancer.
Two of my sisters died of breast cancer, and I was just recently diagnosed also.  I am assuming there is a genetic component here that probably came from my paternal grandfather who was born in a Jewish village in Poland and whose native language was Yiddish.  My question is why would this not also have appeared in others in my extended family of aunts and cousins on the same side of the family?  I have a lot of aunts and cousins on that side of the family. To the best of my knowledge only my siblings and I have been affected.  
Charis Eng, MD, PhD:
Yes, having several relatives with breast cancer and being Jewish almost certainly suggests you are at high genetic risk here
I'm 32 years old. My mom was diagonised with breast cancer (triple negative node positive) a year ago at the age of 57. After that I learnt that both her paternal aunts had breast cancer in their 50s and passed away because the cancer had metastized. One of the daughter of her paternal aunts who is now in her 50s is also suffering with breast cancer. Also I have mutliple fibroadenomas in both of my breasts and recently had an excisional biopsy for a suspicious area that turned out to be mild hyperplasia. Should I be worried even though everyone was diagonised in their 50s? If this suggests a strong family history, I'd rather alert my other female cousins. My mom has 5 brothers and she is the only girl in the family. All her brothers have daughters. I do not have any sisters. Should I get the BRCA testing done? My mom doesn't live is the U.S and cannot get the BRCA testing done. I do not want to live in fear and at the same time do not want to ignore if there is any elevated risk factor
Charis Eng, MD, PhD:
Your family history suggests a genetic component and the best thing to do is to see cancer genetics professionals.  There is a list at the NSGC web site.
I have an extensive family history of Cancer on both my father's and my mother's side. My father has had Prostate Cancer. His father died of Colon Cancer; one of his sisters died of Leukemia; another sister died of Kidney Cancer and His brother died of Non-Hodgkins Lymphoma. As for my mother, she has both Hodgkins Disease and Non-Hodgkins Lymphoma. Plus, she has 2 sisters who've had Breast Cancer. And, my sister has had Ovarian and Kidney Cancer.
Charis Eng, MD, PhD:
It certainly seems like a lot of different cancers.  I suggest  you see a cancer genetics professional / genetic counselor locally.
Does genetic breast cancer present itself differently from other breast cancers?
Charis Eng, MD, PhD:
My mother was the first female in our family to be diagnosed with breast cancer.  her type of cancer was HER2Neu positive, but negative for the BRCA1 gene mutation.  Aside from yearly mammograms, what type of genetic tests are available for me to help determine my risk of developing breast cancer?  Is the HER2Neu type of breast cancer hereitary?  Thank you Dr. Eng for taking the time to answer my question.
Charis Eng, MD, PhD:
Yes, it can but not always.  Some red flags that suggest heredity: early age of onset, bilateral disease, multifocal disease, associated cancers (eg breast and ovarian) and/or familial clustering
My sister and I have tested for BRCA mutation and have both come back negative. I had stage 3 invasive lobular carcinoma, 10 cm, two nodes. She had non hodgkins lymphoma at the same time as my BC. Mother died of small cell lung cancer. Maternal Grandmother died of ovarian cancer. Two grand - maternal aunts died of breast cancer. We have melanoma in the family as well. So with all the cancer we have in our family. what would be the risk for my sisters and brother to have breast cancer and/or ovarian cancer? Thank you.
Charis Eng, MD, PhD:
The family history of breast, ovarian and lung cancers plus melanoma does suggest BRCA1/2 but the best thing is for you/your family to be evaluated by cancer genetics professionals/genetic counselors (because there are 8 breast cancer genes)
My maternal aunt had an aggressive form of breast cancer.  She died from it, too.:-(  How do I find out if my double first cousins and I are at high risk of developing this breast cancer?  My primary care doctor tries to tell me that I'm not at that high of risk, but if any of my double first cousins (her children) gets this cancer I'm sure I'm at higher risk than if any of my other first cousins.  I only had one maternal aunt.  I am forty years old.  The only time I had a mamogram was prior to having a breast reduction.  Why didn't my doctor think I was at a higher than normal risk of developing this breast cancer?  Suppose one of her daughters (my double first cousins) gets this breast cancer, aren't I at a higher risk, too, since they're related through both sets of parents and are the same blood line as siblings?
Charis Eng, MD, PhD:
If your maternal aunt h ad breast cancer relatively late, there may not be a genetic risk. May I assume your mum is therefore alive and well?  If you are in doubt at all, then I suggest best thing is for you/your family to be evaluated by cancer genetics professionals/genetic counselors
In the past twelve months, I have been diagnosed with DCIS, high grade and then papillary thyroid cancer that has metastasized to my neck, my bones, and over thirty-five places in my lungs.  I am a 61 year old female, who has three sisters, one of which was diagnosed with DCIS and lobular breast cancer at age 60 which had spread to the lymph nodes.  Our other sisters are ten years younger and do not show any signs of cancer yet.  What is your medical recommendation as far as genetic testing for our family.  I also have a brother, and two sons.  Neither of my parents show any cancer.  My mother died at 76 of a MI, and my father is living and thriving at 94. My grandmothers lived to 80 and 99, and my grandfathers died in their 60s.  No one previously has been known to have cancer in our families.
Charis Eng, MD, PhD:
It's a bit difficult to tell however the good news is that you have no other family members with cancer.  Nonetheless, when I see breast and thyroid, I usually think of Cowden syndrome caused by mutations in PTEN (the gene I discovered).  Therefore, the best thing is for you/your family to be evaluated by cancer genetics professionals/genetic counselors
Hello. I have a VERY strong family history of Breast Cancer (maternal grandmother had it 3 times; mother had it twice -- at age 54 with the second one recurring only 3 years after the first, in both breasts and resulting in a double mastectomy). Are there any clinical trials or studies you know about that I may be eligible for? (I'm 39 years old, if that matters). Thank you for your time!
Charis Eng, MD, PhD:
I am assuming  you mean therapeutic trials vs genetic trials. The NCI has a web site at for therapy trials.
What are the chances of having breast cancer return if I am brca1+ and I've had a double mastectomy?
Charis Eng, MD, PhD:
The likelihood is very low - by having double mastectomy (prophylactically) you have reduced your risk by >90% of having BRCA1-related breast cancer
Does race or ethnicity have a bearing on the likelihood of getting breast cancer or is it more inclined to be just familial?
Charis Eng, MD, PhD:
Both: eg, Ashkenazi Jews and Icelandics have founder mutations in BRCA1/2 that increase the risk of breast/ovarianc cancer.  Family history of breast cancer does increase the risk as well.
I'm currently awaiting the results of a BRAC Analysis Multisite 3 test due to my Ashkenazi heritage and very limited knowledge of my family medical history. I have read that women who have had breast reduction reduce their risk of getting breast cancer. Can you tell me if this is true and, if so, would it also reduce the risk for a woman who has a BRACA gene mutation? Thank you very much.