Know Your Risk for Breast Cancer with Dr. Wendy S. Rubinstein<a href="">Dr. Wendy Rubinstein</a> takes questions on the genetics of <a href="">breast cancer</a>.Copyright 2016 NorthShore University HealthSystemPost at 11:54 AMKristin Philbin: Welcome to NorthShore University HealthSystem’s latest chat: Know Your Risk for Breast Cancer with Dr. Wendy S. Rubinstein. The chat will not start for another five minutes, but please start submitting questions to be answered shortly. AMPost at 11:55 AMDr. Wendy S. Rubinstein: Welcome to today's chat on reducing your risk. I'm the Director of the NorthShore Center for Medical Genetics. We provide medical consultation for hereditary conditions, such as cancer predisposition, with the intent of helping people to lead healthier lives. There are many ways to predict cancer risks, diagnose cancer at a much earlier stage, or prevent cancer altogether. Knowing your family history is key. Our team includes two physicians, Dr. Peter Hulick and myself, four genetic counselors, and a clinical research nurse. In addition to our chat today I hope you will visit our website for more information on clinical and research activities in our Center. Wendy S. Rubinstein, MD, PhD, FACMG, FACP Medical Director Center for Medical Genetics NorthShore University HealthSystem Associate Professor of Medicine Northwestern University Feinberg School of Medicine 1000 Central Street, Suite 620 Evanston, IL 60201 847.570.1029 <a href=""></a> AMPost at 11:58 AMKaren: I've read that the lifetime risk of developing breast cancer for women who have a family history of BC, but no known genetic mutation, is approximately 20-30%. I've tested neg. for the BRCA1 & BRCA2, but I'm trying to determine whether my family history puts me at higher risk. Which family relationships & # of impacted family members (maternal/paternal) are considered in determining whether there is an increased family history risk?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): The risk of breast cancer faced by women with a family history of breast cancer is indeed determined by factors beyond the BRCA1/2 genes. Your question points out an important issue, that a negative test, where a familial mutation is not known, does not rule out risk. Your risk would be related to the degree of relationship (closer = more risk to you), their ages of diagnosis (younger = more risk), and how many affected relatives (more relatives = more risk). There are several quantitative models that can be used to quantitate your risk a bit more accurately than the 20-30% you note in your question. If you are concerned, we could offer a consultation to discuss in further detail. AMPost at 12:01 PMJessica: How do people inherit breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): There are many genes which, when altered or mutated, contribute to the risk of breast cancer. People inherit a genetic susceptibility, not the cancer itself. Environmental exposures and lifestyle play and important role, so we think of genes and environment working in partnership. Most of these genes have not yet been discovered. Some genes, such as BRCA1/2 and a few others, have been found and can be tested for. The family history of cancer (not just breast cancer) provides clues as to whether testing may yield useful information. PMPost at 12:04 PMAngelica: What genes are related to breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): BRCA1/2: breast and ovarian cancer, and some others PTEN: breast, endometrial, thyroid cancers, benign skin findings CDH1: breast (often invasive lobular breast cancer), diffuse gastric cancer (not gastric adenocarcinoma which is more typical) Several others that are more rare. I'd suggest that you and others "listening in" try our web-based computer program called MyGenerations. You can enter information on your family history of cancer, personal risk factors for breast cancer, and get information on what cancer risks you may be facing and particular hereditary syndromes that may fit with your family history. <a href=""></a> PMPost at 12:08 PMKaren: How do you determine whether there is an increased familial risk of breast cancer and benefit to doing a risk reduction surgery on the breast with no cancer? (For someone that is BRCA 1 & BRCA 2 negative with some family history. Age 50).<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): I'd approach this as follows: 1) determine the quantitate risk through the models I mentioned. If the risk is lower than you think, you may not feel that preventive surgery is worthwhile. 2) review concerns about risk and medical options. 3) some women may be good candidates for chemoprevention, reducing risk through medication. Again, we use a very quantitative approach, trying to balance the health risks (breast cancer vs. risks of the medication) 4) discuss surgical options with a plastic surgeon This is best addressed by a personal visit. PMPost at 12:11 PMMichelle: Should I consider genetic testing to see if I have inherited any mutations?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): This depends on your family and personal history of cancer. Hereditary "red flags" would be: Early onset breast cancer Constellations of cancer e.g. breast and ovarian cancer in the same family, or especially in the same woman. Male breast cancer "too much" breast cancer" on the same side of the family Pancreatic cancer Ashkenazi Jewish ancestry. You could try our MyGenerations program to see how your own family history fits in. PMPost at 12:14 PMRachel: I am the first in a large family of women to get breast cancer, so I would assume that it is not inherited, though two of my maternal great-aunts died from breast cancer.<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Most women who develop breast cancer either have "sporadic" breast cancer (no clear genetic factors and no family history) or they have "familial" breast cancer, with no clear-cut gene involved. This knowledge may of course change over time--we and others are hunting for additional breast cancer susceptibility gene. If your mother is long-lived without cancer (or risk reducing surgeries such as early removal of her ovaries), and if there are other females linking you to your great-aunts, then their diagnoses may have little to do with your own diagnosis. However your own close relatives (sisters, daughters), would have a higher risk based on your diagnosis and possible shared genetic and environmental factors. PMPost at 12:18 PMLisa Aprati: I have been considering genetic testing since I was diagnosed with breast cancer at the age of 35 years old. My fear is finding out that I carry the gene and having insurance companies deny me coverage if I were to move to another job. Is this a fair assessment?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Early age of breast cancer diagnosis is a key feature of hereditary types of breast cancer, such as BRCA1/2. The medical implications may be that if you are carrying a BRCA1/2 mutation, you may face a high risk of ovarian cancer. This would be very important to know before receiving a diagnosis. Many hundreds of thousands of people have had genetic testing, and the scenario you describe has not come to light. Illinois state law protects you against the kind of genetic discrimination you describe. The new GINA law, Genetic Information Non-Discrimination Act, protects against discrimination for having a mutation or family history i.e. a preexisting condition. For employment, GINA goes into effect November 2009. The health insurance aspect of GINA goes into effect May 2009. Bottom line, the information could be life-saving and is well-balanced against the very small risk of health or employment discrimination. PMPost at 12:23 PMJessica: Thanks, doctor. You mentioned that a family history of overall cancer can have an impact. Are there some cancers in family members that could put me at a higher risk for developing cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): It's difficult to answer a very broad question. Some rare cancers have a strong genetic basis: pheochromocytoma, medullary thyroid cancer. For breast cancer, I might be more concerned about so-called triple receptor negative tumors or medullary breast cancer. Again, I'd say to use our MyGenerations program to put in the specific cancers in your family. PMPost at 12:25 PMMichelle: Thanks for your great advice! Can you tell me a bit more about genetic testing?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Genetic testing should always include genetic counseling, a face-to-face discussion with a genetics professional, both before and after the actual test. The important thing is the information you gain from the test, how you use the information, and having proper interpretation by a professional. Genetic testing is usually done via a blood test. No special fasting is needed. Insurance companies usually cover the cost when testing is indicated, and usually you would know what charges you'd face beforehand. Often it is better to first test someone in the family who has been affected by cancer, rather than starting with someone unaffected, for better information from the test result. PMPost at 12:28 PMKaren: Once you determine whether you are at an increased risk of breast cancer due to family history, how do you determine whether to do the BART Testing if the BRCA 1 & BRCA 2 genetic testing was negative?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): BART testing is an additional level of analysis which goes beyond DNA sequences of genes. BART looks for large rearrangements, deletions, and insertions of DNA material. A positive BART result has the same medical implications as a mutation found with more routine types of analysis. Anyone who has had comprehensive BRCA1/2 testing could go on for BART analysis. It is a matter of yield (chances of finding a mutation), and cost. For high-risk families (multiple cases of breast cancer; early-onset usually; often ovarian cancer in the family), the yield is 1-3%. The cost is $650. PMPost at 12:31 PMAngelica: How much higher is your risk of cancer if you have a BRCA mutation?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Women at average risk of breast cancer face about a 12% lifetime risk. Women with BRCA mutations face about a 50-85% lifetime risk. In addition, BRCA1/2 breast cancers can emerge very young in life, i.e. the 20s, well before breast cancer screening is routinely advised. It is also important to note that BRCA1/2 carriers face about a 40% risk of ovarian cancer. PMPost at 12:33 PMRachel: At what point should people start getting tested to see if they may be the first person to carry this genetically & pass it on to future generations of women?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): If you were diagnosed relatively early in life, say before age 50, then testing might reveal a mutation, but usually it won't unless the family history has additional genetic features or the diagnosis was particularly young (e.g. 30s or younger). PMPost at 12:34 PMMichelle: Are there several types of genetic breast cancers?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): I think I mentioned these before, e.g. BRCA1/2, CDH1, PTEN, others. PMPost at 12:35 PMMichelle: When genetic testing is performed, do they just check for cancers, or other diseases?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Genetic testing is available for about 1500 hereditary conditions, most rare, and going well beyond hereditary cancer. PMPost at 12:35 PMAngelica: If I have a history of breast cancer in the family, what age would you suggest I start routine screenings?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): If the pattern may be genetic, then genetic counseling and possible genetic testing would be the first place to start. If genetic testing is not indicated, not done, or not revealing, then your risk could be quantitated. This would help determine whether to add additional screening such as breast MRI, or to consider chemoprevention to reduce your risk. If you have a familial pattern of breast cancer, but no clear-cut gene that can be determined, then generally it is best to begin cancer screening 10 years earlier than the youngest breast cancer diagnosed in the family. Routine age to begin is 40, so this could mean starting in the 30s or even the 20s. PMPost at 12:39 PMJessica: If I do want genetic testing, is there a specific age or age range in which testing is optimal?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): People test at all ages, but we only test adults (age 18 and older) for BRCA1/2 because these genes do not cause childhood cancers. Women in their 20s would benefit from knowing whether they need high-risk screening (mammogram plus MRI plus physician exam every 6 months). Family planning may also be a consideration. Women in their 30s would benefit from understanding their ovarian and breast cancer risks. Women age 40 onward also face high risks of breast and ovarian cancer if they are BRCA1/2 carriers. Women of all ages may want to sort out their genetic risks to help their close relatives understand and face their own risks. PMPost at 12:42 PMMichelle: How far back in my family medical history should I go back to see if I can be affected by the genetics of breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): We think it is helpful to go back as far as you are able. Close relatives have more impact on your risk, but a genetic-looking cancer in a relative that is fairly distantly related would be useful to know about. Also, having many unaffected relatives is useful to know about. PMPost at 12:43 PMJessica: Aside from genetic testing, is there any other way a woman can know if she has inherited a genetic mutation that increases her risk of breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Family history tells us a lot about risk as well. PMPost at 12:43 PMSandy: Are there non-genetic causes of Breast Cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Yes. Although this discussion centers around genetics, perhaps 25% of breast cancer is attributable to genetic factors and the rest is "environmental". This could mean hormone exposure from our own bodies or through medication; pollution; tobacco; diet; exercise/lifestyle; and many other factors. Unfortunately we still have much to learn about these specific factors and how to control them. PMPost at 12:45 PMAngelica: What can someone with a family history of breast cancer do to take caution of developing breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): 1) learn about the degree of risk through genetic risk assessment 2) learn about related cancer risks 3) consider chemoprevention, depending on the numeric risk, your age, and other medical history issues 4) possibly have high-risk screening e.g. breast MRI, if you qualify 5) consider prophylactic mastectomy if the risk is high PMPost at 12:48 PMKristin Philbin: Thank you everyone for your great participation, but unfortunately we only have ten minutes left. Please submit any final questions you have. PMPost at 12:48 PMJessica: Thanks again, doctor. You mentioned family planning. I am actually in the process of this with my husband, and do have history of breast cancer in my family (my aunt on my father's side). What precautionary steps should I take against breast cancer when I want to conceive?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): See your doctor and discuss whether having a mammogram (if you haven't started yet) is a consideration. PMPost at 12:49 PMJessica: As a follow up to Sandy's question--does having other conditions like Type 2 Diabetes, High Blood pressure,etc., highten your risk of developing breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): We don't know of any close relationships between breast cancer and common medical conditions such as diabetes, high blood pressure, heart disease, stroke, etc. PMPost at 12:50 PMAngelica: Can you tell me more about chemoprevention?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Two medications are approved for breast cancer chemoprevention: tamoxifen and raloxifene. Raloxifene is approved only in post-menopausal women. Otherwise the medications are fairly similar. Each is given for a 5-year course, and is associated with a reduction in the risk of breast cancer by about 50%. Both can cause hot flashes. Both reduce the risk of bone fractures. The serious side effects are blood clots/pulmonary emboli, and endometrial cancer. These risks are age-related. Women in their 40s who face an elevated risk of breast cancer (which must be quantitated) may be very good candidates for chemoprevention, depending on their health histories. PMPost at 12:53 PMAngelica: If a mammogram screenings have shown that I'm okay, would it be okay to conceive even if there's breast cancer in the family history?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): There's no reason why a family history of breast cancer should keep you from going on to have a family. Having a full-term pregnancy is even associated with a reduction in the risk of breast cancer. PMPost at 12:55 PMKaren: Can you speak to the various drugs that are available for bone health and how they may have an impact on breast cancer preventation where there is some family history? Which ones do you recommend and why?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): Raloxifene is approved by the FDA for treatment and prevention of osteoporosis. As I mentioned raloxifene is also approved for chemoprevention. For women who are postmenopausal, and are at risk for both osteoporosis and breast cancer, raloxifene can be a useful option. I'd recommend that you discuss this further with your doctor. PMPost at 12:57 PMKristin Philbin: Thank you everyone for your great participation, but we only have time for one last question. PMPost at 12:57 PMMichelle: Thank you for all of your information! Are there any books that you can recommend that address the issues with genetics and breast cancer?<br/><br/>Dr. Wendy S. Rubinstein (NorthShore): I'd recommend that you try to see the documentary film, "In the Family", by Kartemquin films, available through PBS or the Kartemquin website. The film is being shown throughout the Chicago area. The film highlights the experiences of many families as they consider testing for BRCA1/2. The director Joanna Rudnick highlights her own experiences as well. PMPost at 12:58 PMKristin Philbin: Thank you everyone for participating in the chat. A complete transcript will be available shortly. More information about NorthShore’s breast cancer services can be found on the Breast Cancer Center’s website. PMPost at 1:00 PMDr. Wendy S. Rubinstein: Thank you all for your thoughful questions. I think we covered a lot of important ground. Wendy S. Rubinstein, MD, PhD, FACMG, FACP Medical Director Center for Medical Genetics NorthShore University HealthSystem Associate Professor of Medicine Northwestern University Feinberg School of Medicine 1000 Central Street, Suite 620 Evanston, IL 60201 847.570.1029 (voice) <a href=""></a> PM