It's estimated that one in eight U.S women will develop breast cancer over the course of her life.
How does your genetics play a role in developing breast cancer?
Umangi Patel, MD, discusses how your genetics can increase your chances of developing cancer, who may be a candidate for genetic testing, and what decisions you may have to consider after receiving a genetic diagnosis.
Selected Podcast
The Genetics of Breast Cancer
Featured Speaker:
University and completed her residency in Internal Medicine at Catholic Medical Center of Brooklyn and Queens. She is fellowship trained in Hematology and Oncology, serving at Long Island Jewish Medical Center.
Umangi Patel, MD
Dr. Umangi Patel is board certified in Internal Medicine, Medical Oncology, and Hematology. She is the current Medical Director of St. Luke’s Cornwall Hospital Oncology Services. Dr. Patel received her medical degree from N.H.L. Municipal Medical College GujaratUniversity and completed her residency in Internal Medicine at Catholic Medical Center of Brooklyn and Queens. She is fellowship trained in Hematology and Oncology, serving at Long Island Jewish Medical Center.
Transcription:
The Genetics of Breast Cancer
Melanie Cole (Host): If you or one of your close relatives has been diagnosed with breast cancer, you may have concerns about whether breast cancer runs in your family. My guest today is Dr. Umangi Patel. She's the Medical Director of St. Luke's Cornwall Hospital's oncology services. So Dr. Patel, when we talk about risk for breast cancer and women hear various risk factors, speak a little bit about the specific genetic predisposition and what role inherited trait plays in developing breast cancer.
Dr. Umangi Patel, MD (Guest): So the good news is that the majority of the breast cancers are not considered genetic or inherited cancer. Close to 70% of the women unfortunately, when they get breast cancer, are actually not due to inherited causes. However, about 10% of the breast cancers are due to inherited causes, and especially the genetic mutations. The most common ones that we know are BRCA1 and BRCA2 genes that are mutated, and as such these mutations as I pointed out are rare, around one in four hundred people, but there are other uncommon mutations as well that can cause breast cancer and can be seen in families such as Pt10, ATM, JAK2 mutations. So there are other mutations also that are described are associated with genetic causes of the breast cancer.
Melanie: People have heard the word 'BRCA,' the BRCA1, BRCA2 genes. So speak about those genes specifically, and does everybody have them? Because this is something people say, "Oh, I have the BRCA gene." But really everybody has them, correct? And it's just a mutation that you would have that would determine whether you were at risk for breast cancer.
Dr. Patel: That is correct. We all have BRCA1 and BRCA2 genes, however when these genes are mutated then the cell groups are altered and then these patients can develop cancer. So patients who have BRCA1 and BRCA2 mutations are at much higher risk, especially with BRCA1 mutation, up to 80% in a lifetime patients can get breast cancer. And with BRCA2, a little bit less, but still there is a significantly higher risk of developing breast cancer over the period of life, and hence these women should be monitored completely differently by the physician when they have to undergo. So these women should be properly evaluated by the genetic counselor and should be followed by a gynecologist and a medical oncologist for risk reduction strategies.
Melanie: What other cancers have been linked to mutations in the BRCA1 and 2 genes?
Dr. Patel: The other cancers that are also linked to these things are ovarian cancer, pancreatic cancer, and even prostate cancer. So these gene mutations can occur in male or female, and can be transmitted to male or female children. And because this is autoimmune dominant, it can be transmitted one in two chance, 50% chance to inherit this either from your father's side or from your mother's side.
Melanie: So now we have to talk about testing, Dr. Patel. Who should get tested for this genetic mutation? Who should consider this? And then the big question is you get tested, what do you do with the information? So speak about who should get tested first, and then we'll get into what you do once you find out the results.
Dr. Patel: So when we discuss who should get tested, any young patient younger than age forty when diagnosed with a breast cancer should be- so early onset of breast cancer, those patients should be tested. Any patient with family members with cancer of the ovaries or fallopian tubes, those patients should be tested. Anybody who has a personal history of bilateral breast cancer should be tested. Anybody who has personal history of breast and ovarian cancer should be tested. Anybody who has one family member that has male breast cancer should be tested. If there are multiple family members with pancreatic cancer and prostate cancer at a younger age should be tested. Any known mutation in the family, in a family history that is already known, then those family members should be tested. Also if there are more than one first and second degree relatives are affected with breast cancer, then those patients should be tested. Patients who are diagnosed with triple negative breast cancer younger than sixty should be tested. So there are specific guidelines for who should be tested, and if you meet those specific guidelines, then insurance companies generally pay for this testing.
Melanie: So there are certain practical aspects to genetic testing. Genetic counseling, evaluation of the person's emotional status, preferences, family histories. So testing alone doesn't really give a sufficiently complete picture, right? For a life-altering decision that somebody might make on a prophylactic mastectomy, for example. So what do you want people to know about the genetic testing itself, and what should they think about, Dr. Patel, when they're considering taking this test?
Dr. Patel: Clearly, as you pointed out, that this is quite an emotionally charged situation for patients and the family members. So genetic counseling can be very essential to understand the ramifications of finding out the test results, or even going through the testing. One is that who should be tested? Two is that would this be covered by insurance companies? Three is if you have found out that yes you want to go through this testing and if it is positive, what can be done to reduce the chance, or to prevent it from happening? Sometimes there is health insurance coverage, jobs, future of the patient herself in terms of the younger women, their dating life, their marriage, their family life, procreation, all of that gets affected to some extent. And also surgeries that they have to go through if they consider prophylactic mastectomy. So guilt trip. Let's say there are three children in the family, and two are affected, and one is not affected. So that also creates a little family dynamic. Employment, health insurance, all of those could be potentially be affected. Certainly one does not qualify for life insurance once they are found out that they have genetic mutations. So all of those are certainly important factors that need to be discussed with the patient beforehand so that they can make an informed decision.
Melanie: You mentioned life insurance. So is there any sort of nondisclosure act, or insurance discrimination going on today? If somebody is found to have a mutation of the BRCA1 or 2 genes, is that going to preclude them from getting life insurance?
Dr. Patel: I think that that would be the case. Also this is like a model of life insurance, and disability insurance, and long-term insurance. There are no federal protections in place to prevent these companies from using genetic test results to deny coverage, unlike Genetic Information Non-Disclosure Act of 2008, where federal law started prohibiting the use of genetic test results as pre-existing conditions for health insurance coverage by the companies.
Melanie: Oh, so that was for health insurance, but not life insurance.
Dr. Patel: That's correct. However if you have a pre-existing policy for healthcare testing, then they're most likely to be protected.
Melanie: That's such an interesting point. So wrap up this whole genetic testing for us, Dr. Patel. Because if a woman does get tested, then they have to consider whether they're going to do something, a life-altering surgery, or be monitored very closely. What do you want women to know about getting tested, about what to do with these results, and who they should discuss these many, many questions with?
Dr. Patel: Yeah, so it's important to understand what are the benefits of genetic testing. It certainly ends the uncertainty. It clarifies the cancer risk for the individual person. It clarifies the responsibility. It's helping medical decision making, and to some extent relieving anxiety. So the negative test results could be falsely reassuring as I mentioned that about 70% of the breast cancer show up without even having genetic mutation. So one should not think that, "Oh I am negative, therefore I don't need to worry." Now once you have identified that you have unfortunately the mutation, then there are specific guidelines, there are self breast exams to be done starting at eighteen, breast exams to be done by physicians starting age fifty-five, and on a six-month basis if mammograms alternating with breast MRI starting age twenty-five. Some form of breast imaging happens every six months. Mammograms let's say happens in June, let's say in December would be MRI. So every six months, some form of imaging is done for your breasts. Then some patients who have already completed childbearing, they can undergo salpingo-oophorectomy, meaning they remove the ovaries and they remove the tubes. So the removal of the ovaries is using the formation of hormones that are hormone-driven cancer, which breast cancer is hormone-driven cancer. The risk reducing strategy both for reduction of the cancer of the ovary and breast.. And also the other thing one can consider is bilateral mastectomy, while it is a pretty significant deforming, so to speak, surgery for the patient, they can undergo bilateral reconstruction as well. But we do think reducing the risk of development of the breast cancer strategies would be to do mastectomy bilaterally, meaning of both breasts, or chemo-prevention with use of tamoxifen or with use of reloxicin, one can reduce the risk so that the risk is close to fifty percent but does not make it zero.
Melanie: It's such good information, Dr. Patel. Thank you so much for clearing up some of the confusion surrounding genetic testing and breast cancer. If you have questions about genetic testing for breast cancer, speak with your physician, or for more information you can visit www.StLukesCornwallHospital.org. That's www.StLukesCornwallHospital.org. This is Doc Talk presented by St. Luke's Cornwall Hospital. I'm Melanie Cole, thanks so much for tuning in.
The Genetics of Breast Cancer
Melanie Cole (Host): If you or one of your close relatives has been diagnosed with breast cancer, you may have concerns about whether breast cancer runs in your family. My guest today is Dr. Umangi Patel. She's the Medical Director of St. Luke's Cornwall Hospital's oncology services. So Dr. Patel, when we talk about risk for breast cancer and women hear various risk factors, speak a little bit about the specific genetic predisposition and what role inherited trait plays in developing breast cancer.
Dr. Umangi Patel, MD (Guest): So the good news is that the majority of the breast cancers are not considered genetic or inherited cancer. Close to 70% of the women unfortunately, when they get breast cancer, are actually not due to inherited causes. However, about 10% of the breast cancers are due to inherited causes, and especially the genetic mutations. The most common ones that we know are BRCA1 and BRCA2 genes that are mutated, and as such these mutations as I pointed out are rare, around one in four hundred people, but there are other uncommon mutations as well that can cause breast cancer and can be seen in families such as Pt10, ATM, JAK2 mutations. So there are other mutations also that are described are associated with genetic causes of the breast cancer.
Melanie: People have heard the word 'BRCA,' the BRCA1, BRCA2 genes. So speak about those genes specifically, and does everybody have them? Because this is something people say, "Oh, I have the BRCA gene." But really everybody has them, correct? And it's just a mutation that you would have that would determine whether you were at risk for breast cancer.
Dr. Patel: That is correct. We all have BRCA1 and BRCA2 genes, however when these genes are mutated then the cell groups are altered and then these patients can develop cancer. So patients who have BRCA1 and BRCA2 mutations are at much higher risk, especially with BRCA1 mutation, up to 80% in a lifetime patients can get breast cancer. And with BRCA2, a little bit less, but still there is a significantly higher risk of developing breast cancer over the period of life, and hence these women should be monitored completely differently by the physician when they have to undergo. So these women should be properly evaluated by the genetic counselor and should be followed by a gynecologist and a medical oncologist for risk reduction strategies.
Melanie: What other cancers have been linked to mutations in the BRCA1 and 2 genes?
Dr. Patel: The other cancers that are also linked to these things are ovarian cancer, pancreatic cancer, and even prostate cancer. So these gene mutations can occur in male or female, and can be transmitted to male or female children. And because this is autoimmune dominant, it can be transmitted one in two chance, 50% chance to inherit this either from your father's side or from your mother's side.
Melanie: So now we have to talk about testing, Dr. Patel. Who should get tested for this genetic mutation? Who should consider this? And then the big question is you get tested, what do you do with the information? So speak about who should get tested first, and then we'll get into what you do once you find out the results.
Dr. Patel: So when we discuss who should get tested, any young patient younger than age forty when diagnosed with a breast cancer should be- so early onset of breast cancer, those patients should be tested. Any patient with family members with cancer of the ovaries or fallopian tubes, those patients should be tested. Anybody who has a personal history of bilateral breast cancer should be tested. Anybody who has personal history of breast and ovarian cancer should be tested. Anybody who has one family member that has male breast cancer should be tested. If there are multiple family members with pancreatic cancer and prostate cancer at a younger age should be tested. Any known mutation in the family, in a family history that is already known, then those family members should be tested. Also if there are more than one first and second degree relatives are affected with breast cancer, then those patients should be tested. Patients who are diagnosed with triple negative breast cancer younger than sixty should be tested. So there are specific guidelines for who should be tested, and if you meet those specific guidelines, then insurance companies generally pay for this testing.
Melanie: So there are certain practical aspects to genetic testing. Genetic counseling, evaluation of the person's emotional status, preferences, family histories. So testing alone doesn't really give a sufficiently complete picture, right? For a life-altering decision that somebody might make on a prophylactic mastectomy, for example. So what do you want people to know about the genetic testing itself, and what should they think about, Dr. Patel, when they're considering taking this test?
Dr. Patel: Clearly, as you pointed out, that this is quite an emotionally charged situation for patients and the family members. So genetic counseling can be very essential to understand the ramifications of finding out the test results, or even going through the testing. One is that who should be tested? Two is that would this be covered by insurance companies? Three is if you have found out that yes you want to go through this testing and if it is positive, what can be done to reduce the chance, or to prevent it from happening? Sometimes there is health insurance coverage, jobs, future of the patient herself in terms of the younger women, their dating life, their marriage, their family life, procreation, all of that gets affected to some extent. And also surgeries that they have to go through if they consider prophylactic mastectomy. So guilt trip. Let's say there are three children in the family, and two are affected, and one is not affected. So that also creates a little family dynamic. Employment, health insurance, all of those could be potentially be affected. Certainly one does not qualify for life insurance once they are found out that they have genetic mutations. So all of those are certainly important factors that need to be discussed with the patient beforehand so that they can make an informed decision.
Melanie: You mentioned life insurance. So is there any sort of nondisclosure act, or insurance discrimination going on today? If somebody is found to have a mutation of the BRCA1 or 2 genes, is that going to preclude them from getting life insurance?
Dr. Patel: I think that that would be the case. Also this is like a model of life insurance, and disability insurance, and long-term insurance. There are no federal protections in place to prevent these companies from using genetic test results to deny coverage, unlike Genetic Information Non-Disclosure Act of 2008, where federal law started prohibiting the use of genetic test results as pre-existing conditions for health insurance coverage by the companies.
Melanie: Oh, so that was for health insurance, but not life insurance.
Dr. Patel: That's correct. However if you have a pre-existing policy for healthcare testing, then they're most likely to be protected.
Melanie: That's such an interesting point. So wrap up this whole genetic testing for us, Dr. Patel. Because if a woman does get tested, then they have to consider whether they're going to do something, a life-altering surgery, or be monitored very closely. What do you want women to know about getting tested, about what to do with these results, and who they should discuss these many, many questions with?
Dr. Patel: Yeah, so it's important to understand what are the benefits of genetic testing. It certainly ends the uncertainty. It clarifies the cancer risk for the individual person. It clarifies the responsibility. It's helping medical decision making, and to some extent relieving anxiety. So the negative test results could be falsely reassuring as I mentioned that about 70% of the breast cancer show up without even having genetic mutation. So one should not think that, "Oh I am negative, therefore I don't need to worry." Now once you have identified that you have unfortunately the mutation, then there are specific guidelines, there are self breast exams to be done starting at eighteen, breast exams to be done by physicians starting age fifty-five, and on a six-month basis if mammograms alternating with breast MRI starting age twenty-five. Some form of breast imaging happens every six months. Mammograms let's say happens in June, let's say in December would be MRI. So every six months, some form of imaging is done for your breasts. Then some patients who have already completed childbearing, they can undergo salpingo-oophorectomy, meaning they remove the ovaries and they remove the tubes. So the removal of the ovaries is using the formation of hormones that are hormone-driven cancer, which breast cancer is hormone-driven cancer. The risk reducing strategy both for reduction of the cancer of the ovary and breast.. And also the other thing one can consider is bilateral mastectomy, while it is a pretty significant deforming, so to speak, surgery for the patient, they can undergo bilateral reconstruction as well. But we do think reducing the risk of development of the breast cancer strategies would be to do mastectomy bilaterally, meaning of both breasts, or chemo-prevention with use of tamoxifen or with use of reloxicin, one can reduce the risk so that the risk is close to fifty percent but does not make it zero.
Melanie: It's such good information, Dr. Patel. Thank you so much for clearing up some of the confusion surrounding genetic testing and breast cancer. If you have questions about genetic testing for breast cancer, speak with your physician, or for more information you can visit www.StLukesCornwallHospital.org. That's www.StLukesCornwallHospital.org. This is Doc Talk presented by St. Luke's Cornwall Hospital. I'm Melanie Cole, thanks so much for tuning in.