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5 beyond RISK THE OHIO STATE UNIVERSITY COMPREHENSIVE CANCER CENTER – ARTHUR G. JAMES CANCER HOSPITAL AND RICHARD J. SOLOVE RESEARCH INSTITUTE Waiting for Cancer to Come continued from page 4 . . . themselves after testing. Again, this is why it’s important to see a genetic counselor. •Genetic testing can often lead to isolation and stigmatization within a family and therefore it’s not always beneficial. This has been the case within my own family. •Women with HBOC who have a desire to have prophylactic surgery tend to marry earlier and have children sooner. •Most women get genetically tested simply to “beat” cancer. Well, I know I did, in hopes of beating ovarian cancer. •Countless circumstances determine whether or not a woman will undergo testing: age, children, employment, ethnicity, and education level; most women do it for their families, specifically their children—they want to be around for their children. At the same time, they hold tremendous guilt for unknowingly passing this onto their children. •Various cultural influences play a role in a decision to get tested; for example, some Orthodox Jewish fathers prefer their daughters do not undergo genetic testing prior to marriage; Jewish law mandates that women should only “seek knowledge” if she is capable of dealing with it. •When one woman within a family tests positive for BRCA, many other female members of their family are more likely to be tested. •Who gets tested? 90 percent were Caucasian, 80 percent identified themselves as middle-class, and none of them deemed themselves lower class; the socio-economical disparities in genetic testing amongst women is appalling. •Women who are not white, well-educated, and well-off are less likely to be tested. Poor women are less likely to receive genetic counseling, good medical treatment, and visit oncologists. •Some women find their diagnosis to be the impetus for them to make serious changes in their lives; for example, one woman decided to get that much-needed divorce which she had been putting off for so long. Some feel if their time is limited then they should make the most out of it and be happy as possible. •If someone has not seen someone die of the cancer within their family which they’re possibly at risk for, it can definitely negatively affect their decision making process in regards to genetic testing and prophylactic surgeries. I could go on and on with the salient points of Waiting for Cancer to Come, but I won’t because I want you to read it. Professor Hesse-Biber does a remarkable job of discussing the various issues which influence how, why, when, and who gets genetically tested and takes prophylactic measures to prevent malignancy to their organs. The one thing I wish she had gone into greater detail about was forced menopause at an early age and the hells which may follow it. She does not emphasize this enough. But my beloved Mick Jagger reminds me of the fact, “You Can’t Always Get What You Want!” Kudos to her for mentioning BRCA in men and how the removal of body parts (in this case, of breasts) can make a woman feel defeminized; something which I frequently discuss as a result of my oophorectomy. The bottom line: most women are illprepared for these prophylactic surgeries, the conversation regarding genetic testing, and that genetic testing for mutations need to be more inclusive of various groups — the voices of the marginalized need to be heard, too. I highly recommend this book to doctors, genetic counselors, advocates, and anyone else interested in truly understanding the complexity behind the variables of genetic testing. Though this solely focuses on BRCA, many of these observations are relevant and mirror many issues regarding other deleterious gene mutations. The book may be found at: http://www.amazon.com/WaitingCancer-Come-Experiences-Decision/dp/0472052195. It is a great book to add to your hereditary cancer collection and use as a reference. VOL 7 The Ohio State University Division of Human Genetics 2001 Polaris Parkway Columbus, Ohio 43240 Waiting for Cancer to Come by Sharlene Hesse-Biber Reviewed and excerpt reprinted with permission from: Georgia Hurst on her blog ihavelynchsyndrome.com Save the Date! 7th Annual Beyond Risk Conference Saturday, April 25 10 a.m.-2:00 p.m. (Lunch will be provided) Nationwide and Ohio Farm Bureau 4-H Center 2201 Fred Taylor Dr. Columbus, OH 43210 www.ohio4-hcenter.org/features.html Check your mailboxes in the next few weeks for a registration brochure or contact us at [email protected] for more information. Our seventh annual Beyond Risk Conference for individuals with Hereditary Breast Ovarian Cancer (HBOC) syndrome is fast approaching! As in previous years, we will provide information and management updates for carriers of BRCA mutations to promote early cancer detection and cancer risk reduction. Topics to be addressed include impact of social media on family communication, healthcare legislation and genetics, what to expect when you have an abnormal breast exam and research updates. We also hope to have time for you to make connections with others so you can meet other families affected by BRCA mutations, share your stories and support one another. Waiting for Cancer to Come: Women’s Experience with Genetic Testing and Medical Decision Making for Breast and Ovarian Cancer was written by Sharlene Hesse-Biber; a Professor of Sociology and Director of Women’s Studies & Gender Studies Program at Boston College in Chestnut Hill, Massachusetts. I read, and read, and read; constantly, looking for vital information, which gives me a different perspective and teaches me new things on genetic testing, other genetic disorders, and life in general. Reading medical journals is great and all but I love reading actual books where the author has first hand experience with the topic being discussed—she is a breast cancer survivor. Books provide me with a deeper understanding that things, which besiege that issue, are not necessarily so black and white; various shades of grey emerge. The book discussed the dilemmas, hopes, and concerns of 64 women who undergo genetic testing for the BRCA mutation. These are the major points I’ve extracted from the book: •The “one size fits all” approach should not apply to those who require genetic testing; genetic testing situations are as diverse as the individuals who undergo it. continues on page 4 1 Waiting for Cancer to Come 1 NCCN Breast Cancer Screening Guidelines 2 Patient Story: Janette Cole 3 Current Management Guidelines for BRCA Carriers 6 Save the Date! 7th Annual Beyond Risk Conference NCCN Breast Cancer Screening Guidelines The National Comprehensive Cancer Network (NCCN) is a consortium of the leading cancer treatment and research centers in the U.S., including the James Cancer Hospital. The NCCN publishes annually updated guidelines covering screening and management recommendations for people with BRCA mutations. One significant change in the guidelines for 2014 was a recommendation that BRCA carriers no longer undergo mammograms before age 30. They call for annual MRI for breast imaging between ages 25 and 29, and then mammograms along with MRI annually from age 30. This arose from a number of pieces of evidence. Firstly there is evidence that women in the general public (without known BRCA mutations) have an increased risk for breast cancer if they have significant earlier radiation exposure in childhood and early adulthood.1 There has also been ongoing theoretical concern that BRCA carriers may be more susceptible continues on page 4 2 beyond RISK 3 Janette Cole My name is Janette Cole and I have been a registered nurse for 20 years. My career has taken several turns to include home health case management, pediatric office, Children’s Hospital, dermatology and finally an oncology nurse specializing in melanoma here at The James. Working with oncology patients has been the most rewarding yet challenging path I have taken. This is what I love and where I belong. I have always known that cancer runs in my family. I really started to pay closer attention when my aunt and cousin both got breast cancer at about the same time. They were the third and fourth family members with breast cancer diagnosed on my dad’s side. It was right around this time that I started working at The James. Several times during my orientation, there was explanation and presentation of genetic testing. Every time it was mentioned, something inside me seemed to lead me toward finding out more. With the strong family history, I met with a genetic counselor. I had to do a very complete family history with details of cancers, ages of onset and mortality. During this time, my cousin and my aunt tested positive for a BRCA2 mutation. With that information and my family history, it was decided that I qualified for the testing. They only tested for the very specific mutation that was positive in my cousin and aunt. My test came back that I also have the BRCA2 mutation. The most difficult thought that passed through my mind wasn’t that I was positive, it was that each of my two daughters has a 50 percent chance of getting this BRCA2 mutation from me. beyond RISK Current Management Guidelines for BRCA Carriers I then proceeded with a series of appointments with physicians to determine what options I had. There was a 50-85 percent chance that I would develop breast cancer and up 27 percent chance of getting ovarian cancer. I knew ovarian cancer is difficult to detect at an early stage. I could alternate every six months with an MRI and mammogram and hopefully find the breast cancer at an early stage. The other option was surgical. I could also have a total hysterectomy with bilateral salpingooophorectomy to greatly decrease the ovarian cancer risk as well as reduce the breast cancer risk by eliminating the amount of estrogen circulating. After weighing my options, I firmly decided to take the surgical approach. This decision was met with quite opinionated remarks from both friends and family alike. Some in agreement with my decision and some that didn’t agree at all. This was a very personal decision on many levels. The hysterectomy would put me in instant menopause without relief from estrogen replacement due to its triggering breast cancer for my condition, and a bilateral mastectomy for its physical reasons. Surgery itself is not without its risks. Thankfully, my husband was in full support of my decision throughout the process. The first surgery scheduled was the total hysterectomy in September 2011. The surgery went well but not without its post-operation complication. Three weeks after the operation I developed adhesions and this caused a volvulus (an obstruction caused by twisting of the stomach or intestine) resulting in emergency surgery and a resection of 14 inches of my small bowel. This recovery took a couple months to regain my strength. Because of this complication, I delayed my bilateral mastectomy with tissue expanders until September 2012. Then the next six months I had frequent appointments to fill the tissue expanders. This process was much easier than anticipated. The last step was the final surgical procedure of replacing the expanders with silicone implants. I had the procedure in October 2013 on a Thursday and was back to work the following Tuesday. I was not a suitable candidate for Tamoxifen due to the increased incidence of blood clots in my familial history. Looking back at the entire process, I realize all I have been through. There was never really a question of what needed to be done when I was diagnosed. I knew my goal was to be around for a long time for my two beautiful daughters and loving husband. It was my decision and I knew what needed to be done to decrease my risk. I thank my surgeons at The James, the OR, my coworkers, family, friends and my church for helping me and my family through this entire process. This has taught me to not take life for granted and has helped me to develop a better appreciation of what my patients endure daily. *Please note that the recent United States Preventative Services Task Force recommendations against doing screening mammography between ages 40 and 50 do not apply to BRCA carriers and other high-risk women. Men: • Breast self-exam training and education starting at age 35. •Clinical breast examination every 6-12 months beginning at age 35. Women: •Consider baseline mammogram at age 40; annual mammogram if you have a lot of breast tissue or dense breast tissue on baseline mammogram. •Prostate cancer screening starting at age 40 for BRCA2 mutation carriers (and consider for BRCA1 mutation carriers as well) with annual PSA blood tests and digital rectal exams. •Breast awareness beginning at age 18. Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-exam (BSE) may facilitate breast self awareness. Premenopausal women may find BSE most informative when performed at the end of menses. Men and Women: •Clinical breast examination every 6-12 months beginning at age 25. •Be aware of the signs and symptoms of cancer(s), especially those associated with BRCA gene mutations. • Breast screening •No specific guidelines exist for pancreatic cancer and melanoma, but screening may be individualized based on cancers observed in the family. Consider full-body skin exam for melanoma and investigational protocols for pancreatic cancer. – Age 25-29 or 10 years earlier than the youngest breast cancer diagnosis in the family, whichever is earlier, annual breast MRI (preferably on days 7-15 of the menstrual cycle for premenopausal women) or mammogram if MRI is unavailable. – Age 30-75, annual mammography and breast MRI. – Age >75, management should be considered on an individual basis. • Consider risk-reducing mastectomy. •Risk-reducing bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) is recommended after child bearing and ideally between 35-40 years of age. •For women who have not elected bilateral salpingooophorectomy, consider transvaginal ultrasound with color-Doppler (preferably day 1-10 of menstrual cycle) and CA-125 (preferably after day 5 of menstrual cycle) every 6 months for premenopausal women. This should begin at age 30, or 5-10 years prior to the earliest age at which ovarian cancer was diagnosed in family, whichever is earlier. •Consider chemoprevention options such as Tamoxifen and oral contraceptives. •Consider investigational imaging and screening studies, when available, in the context of a clinical trial. •Follow general population screening guidelines for other cancers. Risk to Relatives: •Inform family members about inherited cancer risk to relatives, options for risk assessment and management. •Recommend genetic counseling and consideration of genetic testing for at-risk relatives. Reproductive Options: •For those individuals who seek to avoid having a child with a BRCA mutation, consider genetic counseling to discuss options for prenatal diagnosis and assisted reproductive technologies. Become informed about the risks, limitations and benefits of these technologies. •Genetic counseling for BRCA2 mutation carriers, to discuss the risk of a rare (recessive) Fanconi anemia/brain tumor phenotype in offspring. This occurs when both parents are carriers of a BRCA2 mutation and both pass the mutation to their offspring. This situation is extremely rare. beyond RISK 4 NCCN Breast Cancer Screening Guidelines continued from page 1 . . . than most women to the DNA-damaging effects of radiation since BRCA1 and BRCA2 are involved in repairing some types of DNA damage. The small number of previous studies looking at mammograms and breast cancer risk in BRCA carriers had come to mixed conclusions, with two finding no increased risk, and two finding increased risks, particularly in women exposed at a young age. Several recent studies, while not large enough to be completely conclusive, provided enough evidence for NCCN to recommend against mammograms in women before age 30. Pijpe and colleagues2 published findings from a European collaborative study of almost 2,000 BRCA mutation carriers, which found that exposure to diagnostic radiation before age 30 was associated with an increased breast cancer risk. Interestingly, no association was found with radiation exposure between ages 30 and 39. Chubiz and colleagues3 performed a computer simulation model on radiation risk in BRCA carriers, and found the greatest benefit from doing MRI only before age 30, and combined MRI and mammograms after. Similarly, computer modeling done by de Bock and colleagues4 predicted the greatest gain in survival and greatest costeffectiveness for the same approach. Based on this evidence, the NCCN guidelines were changed to limit exposure in younger women. 1.Ronckers CM, Erdmann CA, Land CE. Radiation and breast cancer: a review of current evidence. Breast Cancer Res 2005;7:21-32. 2.Pijpe, A et al., Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). Br Med J 2012;345:e5660. 3.Chubiz JE et al., Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer 2013;119:1266-76. 4.De Bock GH et al., Which screening strategy should be offered to women with BRCA1 or BRCA2 mutations? A simulation of comparative cost-effectiveness. Br J Cancer 2103;108:1579-86. Waiting for Cancer to Come continued from page 1 . . . •Many factors determine whether or not someone gets genetically tested, but mostly, a sibling or parent’s cancer narrative usually determines if one gets tested. •Life for people after genetic testing for BRCA is not the same — this information can transform one’s life and it’s not always positive. • Currently, genetic testing offers tests for 1,200 different diseases. •The book discusses the provocative politics behind the practices of some genetic testing companies and the implications for when a genetic testing company refuses to share genetic information from diagnostic tests. It basically prevents other scientists from making progress in furthering research and possibly saving lives. •The book raises interesting questions regarding the ethical responsibility of genetic testing companies; for example, where does their involvement in order to help someone reduce their risk of developing cancer stop? What kind of resources does that genetic testing company offer a patient for emotional support or for further information? •The book includes the plethora of reasons why some people won’t get tested including: employment or insurance discrimination, emotional or psychological damages, poor reactions from family members, and the uncertainty of a false-positive test result. •The book addresses the issues when a genetic testing company markets a genetic test to general practitioners instead of using a genetic counselor; these doctors usually have very little experience with cancer and genetic counseling, which in turn may leave a patient in limbo with their diagnosis along with a high level of uncertainty and anxiety. •She reinforces the importance to meet and have your testing through a genetic counselor; they are highly capable of interpreting your results and then will guide you through your next appropriate steps. •This notion of “knowledge is power” is not entirely true— many genetic testing companies do not provide patients with the resources for patients to medically empower continues on page 5 2 beyond RISK 3 Janette Cole My name is Janette Cole and I have been a registered nurse for 20 years. My career has taken several turns to include home health case management, pediatric office, Children’s Hospital, dermatology and finally an oncology nurse specializing in melanoma here at The James. Working with oncology patients has been the most rewarding yet challenging path I have taken. This is what I love and where I belong. I have always known that cancer runs in my family. I really started to pay closer attention when my aunt and cousin both got breast cancer at about the same time. They were the third and fourth family members with breast cancer diagnosed on my dad’s side. It was right around this time that I started working at The James. Several times during my orientation, there was explanation and presentation of genetic testing. Every time it was mentioned, something inside me seemed to lead me toward finding out more. With the strong family history, I met with a genetic counselor. I had to do a very complete family history with details of cancers, ages of onset and mortality. During this time, my cousin and my aunt tested positive for a BRCA2 mutation. With that information and my family history, it was decided that I qualified for the testing. They only tested for the very specific mutation that was positive in my cousin and aunt. My test came back that I also have the BRCA2 mutation. The most difficult thought that passed through my mind wasn’t that I was positive, it was that each of my two daughters has a 50 percent chance of getting this BRCA2 mutation from me. beyond RISK Current Management Guidelines for BRCA Carriers I then proceeded with a series of appointments with physicians to determine what options I had. There was a 50-85 percent chance that I would develop breast cancer and up 27 percent chance of getting ovarian cancer. I knew ovarian cancer is difficult to detect at an early stage. I could alternate every six months with an MRI and mammogram and hopefully find the breast cancer at an early stage. The other option was surgical. I could also have a total hysterectomy with bilateral salpingooophorectomy to greatly decrease the ovarian cancer risk as well as reduce the breast cancer risk by eliminating the amount of estrogen circulating. After weighing my options, I firmly decided to take the surgical approach. This decision was met with quite opinionated remarks from both friends and family alike. Some in agreement with my decision and some that didn’t agree at all. This was a very personal decision on many levels. The hysterectomy would put me in instant menopause without relief from estrogen replacement due to its triggering breast cancer for my condition, and a bilateral mastectomy for its physical reasons. Surgery itself is not without its risks. Thankfully, my husband was in full support of my decision throughout the process. The first surgery scheduled was the total hysterectomy in September 2011. The surgery went well but not without its post-operation complication. Three weeks after the operation I developed adhesions and this caused a volvulus (an obstruction caused by twisting of the stomach or intestine) resulting in emergency surgery and a resection of 14 inches of my small bowel. This recovery took a couple months to regain my strength. Because of this complication, I delayed my bilateral mastectomy with tissue expanders until September 2012. Then the next six months I had frequent appointments to fill the tissue expanders. This process was much easier than anticipated. The last step was the final surgical procedure of replacing the expanders with silicone implants. I had the procedure in October 2013 on a Thursday and was back to work the following Tuesday. I was not a suitable candidate for Tamoxifen due to the increased incidence of blood clots in my familial history. Looking back at the entire process, I realize all I have been through. There was never really a question of what needed to be done when I was diagnosed. I knew my goal was to be around for a long time for my two beautiful daughters and loving husband. It was my decision and I knew what needed to be done to decrease my risk. I thank my surgeons at The James, the OR, my coworkers, family, friends and my church for helping me and my family through this entire process. This has taught me to not take life for granted and has helped me to develop a better appreciation of what my patients endure daily. *Please note that the recent United States Preventative Services Task Force recommendations against doing screening mammography between ages 40 and 50 do not apply to BRCA carriers and other high-risk women. Men: • Breast self-exam training and education starting at age 35. •Clinical breast examination every 6-12 months beginning at age 35. Women: •Consider baseline mammogram at age 40; annual mammogram if you have a lot of breast tissue or dense breast tissue on baseline mammogram. •Prostate cancer screening starting at age 40 for BRCA2 mutation carriers (and consider for BRCA1 mutation carriers as well) with annual PSA blood tests and digital rectal exams. •Breast awareness beginning at age 18. Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-exam (BSE) may facilitate breast self awareness. Premenopausal women may find BSE most informative when performed at the end of menses. Men and Women: •Clinical breast examination every 6-12 months beginning at age 25. •Be aware of the signs and symptoms of cancer(s), especially those associated with BRCA gene mutations. • Breast screening •No specific guidelines exist for pancreatic cancer and melanoma, but screening may be individualized based on cancers observed in the family. Consider full-body skin exam for melanoma and investigational protocols for pancreatic cancer. – Age 25-29 or 10 years earlier than the youngest breast cancer diagnosis in the family, whichever is earlier, annual breast MRI (preferably on days 7-15 of the menstrual cycle for premenopausal women) or mammogram if MRI is unavailable. – Age 30-75, annual mammography and breast MRI. – Age >75, management should be considered on an individual basis. • Consider risk-reducing mastectomy. •Risk-reducing bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) is recommended after child bearing and ideally between 35-40 years of age. •For women who have not elected bilateral salpingooophorectomy, consider transvaginal ultrasound with color-Doppler (preferably day 1-10 of menstrual cycle) and CA-125 (preferably after day 5 of menstrual cycle) every 6 months for premenopausal women. This should begin at age 30, or 5-10 years prior to the earliest age at which ovarian cancer was diagnosed in family, whichever is earlier. •Consider chemoprevention options such as Tamoxifen and oral contraceptives. •Consider investigational imaging and screening studies, when available, in the context of a clinical trial. •Follow general population screening guidelines for other cancers. Risk to Relatives: •Inform family members about inherited cancer risk to relatives, options for risk assessment and management. •Recommend genetic counseling and consideration of genetic testing for at-risk relatives. Reproductive Options: •For those individuals who seek to avoid having a child with a BRCA mutation, consider genetic counseling to discuss options for prenatal diagnosis and assisted reproductive technologies. Become informed about the risks, limitations and benefits of these technologies. •Genetic counseling for BRCA2 mutation carriers, to discuss the risk of a rare (recessive) Fanconi anemia/brain tumor phenotype in offspring. This occurs when both parents are carriers of a BRCA2 mutation and both pass the mutation to their offspring. This situation is extremely rare. beyond RISK 4 NCCN Breast Cancer Screening Guidelines continued from page 1 . . . than most women to the DNA-damaging effects of radiation since BRCA1 and BRCA2 are involved in repairing some types of DNA damage. The small number of previous studies looking at mammograms and breast cancer risk in BRCA carriers had come to mixed conclusions, with two finding no increased risk, and two finding increased risks, particularly in women exposed at a young age. Several recent studies, while not large enough to be completely conclusive, provided enough evidence for NCCN to recommend against mammograms in women before age 30. Pijpe and colleagues2 published findings from a European collaborative study of almost 2,000 BRCA mutation carriers, which found that exposure to diagnostic radiation before age 30 was associated with an increased breast cancer risk. Interestingly, no association was found with radiation exposure between ages 30 and 39. Chubiz and colleagues3 performed a computer simulation model on radiation risk in BRCA carriers, and found the greatest benefit from doing MRI only before age 30, and combined MRI and mammograms after. Similarly, computer modeling done by de Bock and colleagues4 predicted the greatest gain in survival and greatest costeffectiveness for the same approach. Based on this evidence, the NCCN guidelines were changed to limit exposure in younger women. 1.Ronckers CM, Erdmann CA, Land CE. Radiation and breast cancer: a review of current evidence. Breast Cancer Res 2005;7:21-32. 2.Pijpe, A et al., Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). Br Med J 2012;345:e5660. 3.Chubiz JE et al., Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer 2013;119:1266-76. 4.De Bock GH et al., Which screening strategy should be offered to women with BRCA1 or BRCA2 mutations? A simulation of comparative cost-effectiveness. Br J Cancer 2103;108:1579-86. Waiting for Cancer to Come continued from page 1 . . . •Many factors determine whether or not someone gets genetically tested, but mostly, a sibling or parent’s cancer narrative usually determines if one gets tested. •Life for people after genetic testing for BRCA is not the same — this information can transform one’s life and it’s not always positive. • Currently, genetic testing offers tests for 1,200 different diseases. •The book discusses the provocative politics behind the practices of some genetic testing companies and the implications for when a genetic testing company refuses to share genetic information from diagnostic tests. It basically prevents other scientists from making progress in furthering research and possibly saving lives. •The book raises interesting questions regarding the ethical responsibility of genetic testing companies; for example, where does their involvement in order to help someone reduce their risk of developing cancer stop? What kind of resources does that genetic testing company offer a patient for emotional support or for further information? •The book includes the plethora of reasons why some people won’t get tested including: employment or insurance discrimination, emotional or psychological damages, poor reactions from family members, and the uncertainty of a false-positive test result. •The book addresses the issues when a genetic testing company markets a genetic test to general practitioners instead of using a genetic counselor; these doctors usually have very little experience with cancer and genetic counseling, which in turn may leave a patient in limbo with their diagnosis along with a high level of uncertainty and anxiety. •She reinforces the importance to meet and have your testing through a genetic counselor; they are highly capable of interpreting your results and then will guide you through your next appropriate steps. •This notion of “knowledge is power” is not entirely true— many genetic testing companies do not provide patients with the resources for patients to medically empower continues on page 5 2 beyond RISK 3 Janette Cole My name is Janette Cole and I have been a registered nurse for 20 years. My career has taken several turns to include home health case management, pediatric office, Children’s Hospital, dermatology and finally an oncology nurse specializing in melanoma here at The James. Working with oncology patients has been the most rewarding yet challenging path I have taken. This is what I love and where I belong. I have always known that cancer runs in my family. I really started to pay closer attention when my aunt and cousin both got breast cancer at about the same time. They were the third and fourth family members with breast cancer diagnosed on my dad’s side. It was right around this time that I started working at The James. Several times during my orientation, there was explanation and presentation of genetic testing. Every time it was mentioned, something inside me seemed to lead me toward finding out more. With the strong family history, I met with a genetic counselor. I had to do a very complete family history with details of cancers, ages of onset and mortality. During this time, my cousin and my aunt tested positive for a BRCA2 mutation. With that information and my family history, it was decided that I qualified for the testing. They only tested for the very specific mutation that was positive in my cousin and aunt. My test came back that I also have the BRCA2 mutation. The most difficult thought that passed through my mind wasn’t that I was positive, it was that each of my two daughters has a 50 percent chance of getting this BRCA2 mutation from me. beyond RISK Current Management Guidelines for BRCA Carriers I then proceeded with a series of appointments with physicians to determine what options I had. There was a 50-85 percent chance that I would develop breast cancer and up 27 percent chance of getting ovarian cancer. I knew ovarian cancer is difficult to detect at an early stage. I could alternate every six months with an MRI and mammogram and hopefully find the breast cancer at an early stage. The other option was surgical. I could also have a total hysterectomy with bilateral salpingooophorectomy to greatly decrease the ovarian cancer risk as well as reduce the breast cancer risk by eliminating the amount of estrogen circulating. After weighing my options, I firmly decided to take the surgical approach. This decision was met with quite opinionated remarks from both friends and family alike. Some in agreement with my decision and some that didn’t agree at all. This was a very personal decision on many levels. The hysterectomy would put me in instant menopause without relief from estrogen replacement due to its triggering breast cancer for my condition, and a bilateral mastectomy for its physical reasons. Surgery itself is not without its risks. Thankfully, my husband was in full support of my decision throughout the process. The first surgery scheduled was the total hysterectomy in September 2011. The surgery went well but not without its post-operation complication. Three weeks after the operation I developed adhesions and this caused a volvulus (an obstruction caused by twisting of the stomach or intestine) resulting in emergency surgery and a resection of 14 inches of my small bowel. This recovery took a couple months to regain my strength. Because of this complication, I delayed my bilateral mastectomy with tissue expanders until September 2012. Then the next six months I had frequent appointments to fill the tissue expanders. This process was much easier than anticipated. The last step was the final surgical procedure of replacing the expanders with silicone implants. I had the procedure in October 2013 on a Thursday and was back to work the following Tuesday. I was not a suitable candidate for Tamoxifen due to the increased incidence of blood clots in my familial history. Looking back at the entire process, I realize all I have been through. There was never really a question of what needed to be done when I was diagnosed. I knew my goal was to be around for a long time for my two beautiful daughters and loving husband. It was my decision and I knew what needed to be done to decrease my risk. I thank my surgeons at The James, the OR, my coworkers, family, friends and my church for helping me and my family through this entire process. This has taught me to not take life for granted and has helped me to develop a better appreciation of what my patients endure daily. *Please note that the recent United States Preventative Services Task Force recommendations against doing screening mammography between ages 40 and 50 do not apply to BRCA carriers and other high-risk women. Men: • Breast self-exam training and education starting at age 35. •Clinical breast examination every 6-12 months beginning at age 35. Women: •Consider baseline mammogram at age 40; annual mammogram if you have a lot of breast tissue or dense breast tissue on baseline mammogram. •Prostate cancer screening starting at age 40 for BRCA2 mutation carriers (and consider for BRCA1 mutation carriers as well) with annual PSA blood tests and digital rectal exams. •Breast awareness beginning at age 18. Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-exam (BSE) may facilitate breast self awareness. Premenopausal women may find BSE most informative when performed at the end of menses. Men and Women: •Clinical breast examination every 6-12 months beginning at age 25. •Be aware of the signs and symptoms of cancer(s), especially those associated with BRCA gene mutations. • Breast screening •No specific guidelines exist for pancreatic cancer and melanoma, but screening may be individualized based on cancers observed in the family. Consider full-body skin exam for melanoma and investigational protocols for pancreatic cancer. – Age 25-29 or 10 years earlier than the youngest breast cancer diagnosis in the family, whichever is earlier, annual breast MRI (preferably on days 7-15 of the menstrual cycle for premenopausal women) or mammogram if MRI is unavailable. – Age 30-75, annual mammography and breast MRI. – Age >75, management should be considered on an individual basis. • Consider risk-reducing mastectomy. •Risk-reducing bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) is recommended after child bearing and ideally between 35-40 years of age. •For women who have not elected bilateral salpingooophorectomy, consider transvaginal ultrasound with color-Doppler (preferably day 1-10 of menstrual cycle) and CA-125 (preferably after day 5 of menstrual cycle) every 6 months for premenopausal women. This should begin at age 30, or 5-10 years prior to the earliest age at which ovarian cancer was diagnosed in family, whichever is earlier. •Consider chemoprevention options such as Tamoxifen and oral contraceptives. •Consider investigational imaging and screening studies, when available, in the context of a clinical trial. •Follow general population screening guidelines for other cancers. Risk to Relatives: •Inform family members about inherited cancer risk to relatives, options for risk assessment and management. •Recommend genetic counseling and consideration of genetic testing for at-risk relatives. Reproductive Options: •For those individuals who seek to avoid having a child with a BRCA mutation, consider genetic counseling to discuss options for prenatal diagnosis and assisted reproductive technologies. Become informed about the risks, limitations and benefits of these technologies. •Genetic counseling for BRCA2 mutation carriers, to discuss the risk of a rare (recessive) Fanconi anemia/brain tumor phenotype in offspring. This occurs when both parents are carriers of a BRCA2 mutation and both pass the mutation to their offspring. This situation is extremely rare. beyond RISK 4 NCCN Breast Cancer Screening Guidelines continued from page 1 . . . than most women to the DNA-damaging effects of radiation since BRCA1 and BRCA2 are involved in repairing some types of DNA damage. The small number of previous studies looking at mammograms and breast cancer risk in BRCA carriers had come to mixed conclusions, with two finding no increased risk, and two finding increased risks, particularly in women exposed at a young age. Several recent studies, while not large enough to be completely conclusive, provided enough evidence for NCCN to recommend against mammograms in women before age 30. Pijpe and colleagues2 published findings from a European collaborative study of almost 2,000 BRCA mutation carriers, which found that exposure to diagnostic radiation before age 30 was associated with an increased breast cancer risk. Interestingly, no association was found with radiation exposure between ages 30 and 39. Chubiz and colleagues3 performed a computer simulation model on radiation risk in BRCA carriers, and found the greatest benefit from doing MRI only before age 30, and combined MRI and mammograms after. Similarly, computer modeling done by de Bock and colleagues4 predicted the greatest gain in survival and greatest costeffectiveness for the same approach. Based on this evidence, the NCCN guidelines were changed to limit exposure in younger women. 1.Ronckers CM, Erdmann CA, Land CE. Radiation and breast cancer: a review of current evidence. Breast Cancer Res 2005;7:21-32. 2.Pijpe, A et al., Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). Br Med J 2012;345:e5660. 3.Chubiz JE et al., Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer 2013;119:1266-76. 4.De Bock GH et al., Which screening strategy should be offered to women with BRCA1 or BRCA2 mutations? A simulation of comparative cost-effectiveness. Br J Cancer 2103;108:1579-86. Waiting for Cancer to Come continued from page 1 . . . •Many factors determine whether or not someone gets genetically tested, but mostly, a sibling or parent’s cancer narrative usually determines if one gets tested. •Life for people after genetic testing for BRCA is not the same — this information can transform one’s life and it’s not always positive. • Currently, genetic testing offers tests for 1,200 different diseases. •The book discusses the provocative politics behind the practices of some genetic testing companies and the implications for when a genetic testing company refuses to share genetic information from diagnostic tests. It basically prevents other scientists from making progress in furthering research and possibly saving lives. •The book raises interesting questions regarding the ethical responsibility of genetic testing companies; for example, where does their involvement in order to help someone reduce their risk of developing cancer stop? What kind of resources does that genetic testing company offer a patient for emotional support or for further information? •The book includes the plethora of reasons why some people won’t get tested including: employment or insurance discrimination, emotional or psychological damages, poor reactions from family members, and the uncertainty of a false-positive test result. •The book addresses the issues when a genetic testing company markets a genetic test to general practitioners instead of using a genetic counselor; these doctors usually have very little experience with cancer and genetic counseling, which in turn may leave a patient in limbo with their diagnosis along with a high level of uncertainty and anxiety. •She reinforces the importance to meet and have your testing through a genetic counselor; they are highly capable of interpreting your results and then will guide you through your next appropriate steps. •This notion of “knowledge is power” is not entirely true— many genetic testing companies do not provide patients with the resources for patients to medically empower continues on page 5 5 beyond RISK THE OHIO STATE UNIVERSITY COMPREHENSIVE CANCER CENTER – ARTHUR G. JAMES CANCER HOSPITAL AND RICHARD J. SOLOVE RESEARCH INSTITUTE Waiting for Cancer to Come continued from page 4 . . . themselves after testing. Again, this is why it’s important to see a genetic counselor. •Genetic testing can often lead to isolation and stigmatization within a family and therefore it’s not always beneficial. This has been the case within my own family. •Women with HBOC who have a desire to have prophylactic surgery tend to marry earlier and have children sooner. •Most women get genetically tested simply to “beat” cancer. Well, I know I did, in hopes of beating ovarian cancer. •Countless circumstances determine whether or not a woman will undergo testing: age, children, employment, ethnicity, and education level; most women do it for their families, specifically their children—they want to be around for their children. At the same time, they hold tremendous guilt for unknowingly passing this onto their children. •Various cultural influences play a role in a decision to get tested; for example, some Orthodox Jewish fathers prefer their daughters do not undergo genetic testing prior to marriage; Jewish law mandates that women should only “seek knowledge” if she is capable of dealing with it. •When one woman within a family tests positive for BRCA, many other female members of their family are more likely to be tested. •Who gets tested? 90 percent were Caucasian, 80 percent identified themselves as middle-class, and none of them deemed themselves lower class; the socio-economical disparities in genetic testing amongst women is appalling. •Women who are not white, well-educated, and well-off are less likely to be tested. Poor women are less likely to receive genetic counseling, good medical treatment, and visit oncologists. •Some women find their diagnosis to be the impetus for them to make serious changes in their lives; for example, one woman decided to get that much-needed divorce which she had been putting off for so long. Some feel if their time is limited then they should make the most out of it and be happy as possible. •If someone has not seen someone die of the cancer within their family which they’re possibly at risk for, it can definitely negatively affect their decision making process in regards to genetic testing and prophylactic surgeries. I could go on and on with the salient points of Waiting for Cancer to Come, but I won’t because I want you to read it. Professor Hesse-Biber does a remarkable job of discussing the various issues which influence how, why, when, and who gets genetically tested and takes prophylactic measures to prevent malignancy to their organs. The one thing I wish she had gone into greater detail about was forced menopause at an early age and the hells which may follow it. She does not emphasize this enough. But my beloved Mick Jagger reminds me of the fact, “You Can’t Always Get What You Want!” Kudos to her for mentioning BRCA in men and how the removal of body parts (in this case, of breasts) can make a woman feel defeminized; something which I frequently discuss as a result of my oophorectomy. The bottom line: most women are illprepared for these prophylactic surgeries, the conversation regarding genetic testing, and that genetic testing for mutations need to be more inclusive of various groups — the voices of the marginalized need to be heard, too. I highly recommend this book to doctors, genetic counselors, advocates, and anyone else interested in truly understanding the complexity behind the variables of genetic testing. Though this solely focuses on BRCA, many of these observations are relevant and mirror many issues regarding other deleterious gene mutations. The book may be found at: http://www.amazon.com/WaitingCancer-Come-Experiences-Decision/dp/0472052195. It is a great book to add to your hereditary cancer collection and use as a reference. VOL 7 The Ohio State University Division of Human Genetics 2001 Polaris Parkway Columbus, Ohio 43240 Waiting for Cancer to Come by Sharlene Hesse-Biber Reviewed and excerpt reprinted with permission from: Georgia Hurst on her blog ihavelynchsyndrome.com Save the Date! 7th Annual Beyond Risk Conference Saturday, April 25 10 a.m.-2:00 p.m. (Lunch will be provided) Nationwide and Ohio Farm Bureau 4-H Center 2201 Fred Taylor Dr. Columbus, OH 43210 www.ohio4-hcenter.org/features.html Check your mailboxes in the next few weeks for a registration brochure or contact us at [email protected] for more information. Our seventh annual Beyond Risk Conference for individuals with Hereditary Breast Ovarian Cancer (HBOC) syndrome is fast approaching! As in previous years, we will provide information and management updates for carriers of BRCA mutations to promote early cancer detection and cancer risk reduction. Topics to be addressed include impact of social media on family communication, healthcare legislation and genetics, what to expect when you have an abnormal breast exam and research updates. We also hope to have time for you to make connections with others so you can meet other families affected by BRCA mutations, share your stories and support one another. Waiting for Cancer to Come: Women’s Experience with Genetic Testing and Medical Decision Making for Breast and Ovarian Cancer was written by Sharlene Hesse-Biber; a Professor of Sociology and Director of Women’s Studies & Gender Studies Program at Boston College in Chestnut Hill, Massachusetts. I read, and read, and read; constantly, looking for vital information, which gives me a different perspective and teaches me new things on genetic testing, other genetic disorders, and life in general. Reading medical journals is great and all but I love reading actual books where the author has first hand experience with the topic being discussed—she is a breast cancer survivor. Books provide me with a deeper understanding that things, which besiege that issue, are not necessarily so black and white; various shades of grey emerge. The book discussed the dilemmas, hopes, and concerns of 64 women who undergo genetic testing for the BRCA mutation. These are the major points I’ve extracted from the book: •The “one size fits all” approach should not apply to those who require genetic testing; genetic testing situations are as diverse as the individuals who undergo it. continues on page 4 1 Waiting for Cancer to Come 1 NCCN Breast Cancer Screening Guidelines 2 Patient Story: Janette Cole 3 Current Management Guidelines for BRCA Carriers 6 Save the Date! 7th Annual Beyond Risk Conference NCCN Breast Cancer Screening Guidelines The National Comprehensive Cancer Network (NCCN) is a consortium of the leading cancer treatment and research centers in the U.S., including the James Cancer Hospital. The NCCN publishes annually updated guidelines covering screening and management recommendations for people with BRCA mutations. One significant change in the guidelines for 2014 was a recommendation that BRCA carriers no longer undergo mammograms before age 30. They call for annual MRI for breast imaging between ages 25 and 29, and then mammograms along with MRI annually from age 30. This arose from a number of pieces of evidence. Firstly there is evidence that women in the general public (without known BRCA mutations) have an increased risk for breast cancer if they have significant earlier radiation exposure in childhood and early adulthood.1 There has also been ongoing theoretical concern that BRCA carriers may be more susceptible continues on page 4 5 beyond RISK THE OHIO STATE UNIVERSITY COMPREHENSIVE CANCER CENTER – ARTHUR G. JAMES CANCER HOSPITAL AND RICHARD J. SOLOVE RESEARCH INSTITUTE Waiting for Cancer to Come continued from page 4 . . . themselves after testing. Again, this is why it’s important to see a genetic counselor. •Genetic testing can often lead to isolation and stigmatization within a family and therefore it’s not always beneficial. This has been the case within my own family. •Women with HBOC who have a desire to have prophylactic surgery tend to marry earlier and have children sooner. •Most women get genetically tested simply to “beat” cancer. Well, I know I did, in hopes of beating ovarian cancer. •Countless circumstances determine whether or not a woman will undergo testing: age, children, employment, ethnicity, and education level; most women do it for their families, specifically their children—they want to be around for their children. At the same time, they hold tremendous guilt for unknowingly passing this onto their children. •Various cultural influences play a role in a decision to get tested; for example, some Orthodox Jewish fathers prefer their daughters do not undergo genetic testing prior to marriage; Jewish law mandates that women should only “seek knowledge” if she is capable of dealing with it. •When one woman within a family tests positive for BRCA, many other female members of their family are more likely to be tested. •Who gets tested? 90 percent were Caucasian, 80 percent identified themselves as middle-class, and none of them deemed themselves lower class; the socio-economical disparities in genetic testing amongst women is appalling. •Women who are not white, well-educated, and well-off are less likely to be tested. Poor women are less likely to receive genetic counseling, good medical treatment, and visit oncologists. •Some women find their diagnosis to be the impetus for them to make serious changes in their lives; for example, one woman decided to get that much-needed divorce which she had been putting off for so long. Some feel if their time is limited then they should make the most out of it and be happy as possible. •If someone has not seen someone die of the cancer within their family which they’re possibly at risk for, it can definitely negatively affect their decision making process in regards to genetic testing and prophylactic surgeries. I could go on and on with the salient points of Waiting for Cancer to Come, but I won’t because I want you to read it. Professor Hesse-Biber does a remarkable job of discussing the various issues which influence how, why, when, and who gets genetically tested and takes prophylactic measures to prevent malignancy to their organs. The one thing I wish she had gone into greater detail about was forced menopause at an early age and the hells which may follow it. She does not emphasize this enough. But my beloved Mick Jagger reminds me of the fact, “You Can’t Always Get What You Want!” Kudos to her for mentioning BRCA in men and how the removal of body parts (in this case, of breasts) can make a woman feel defeminized; something which I frequently discuss as a result of my oophorectomy. The bottom line: most women are illprepared for these prophylactic surgeries, the conversation regarding genetic testing, and that genetic testing for mutations need to be more inclusive of various groups — the voices of the marginalized need to be heard, too. I highly recommend this book to doctors, genetic counselors, advocates, and anyone else interested in truly understanding the complexity behind the variables of genetic testing. Though this solely focuses on BRCA, many of these observations are relevant and mirror many issues regarding other deleterious gene mutations. The book may be found at: http://www.amazon.com/WaitingCancer-Come-Experiences-Decision/dp/0472052195. It is a great book to add to your hereditary cancer collection and use as a reference. VOL 7 The Ohio State University Division of Human Genetics 2001 Polaris Parkway Columbus, Ohio 43240 Waiting for Cancer to Come by Sharlene Hesse-Biber Reviewed and excerpt reprinted with permission from: Georgia Hurst on her blog ihavelynchsyndrome.com Save the Date! 7th Annual Beyond Risk Conference Saturday, April 25 10 a.m.-2:00 p.m. (Lunch will be provided) Nationwide and Ohio Farm Bureau 4-H Center 2201 Fred Taylor Dr. Columbus, OH 43210 www.ohio4-hcenter.org/features.html Check your mailboxes in the next few weeks for a registration brochure or contact us at [email protected] for more information. Our seventh annual Beyond Risk Conference for individuals with Hereditary Breast Ovarian Cancer (HBOC) syndrome is fast approaching! As in previous years, we will provide information and management updates for carriers of BRCA mutations to promote early cancer detection and cancer risk reduction. Topics to be addressed include impact of social media on family communication, healthcare legislation and genetics, what to expect when you have an abnormal breast exam and research updates. We also hope to have time for you to make connections with others so you can meet other families affected by BRCA mutations, share your stories and support one another. Waiting for Cancer to Come: Women’s Experience with Genetic Testing and Medical Decision Making for Breast and Ovarian Cancer was written by Sharlene Hesse-Biber; a Professor of Sociology and Director of Women’s Studies & Gender Studies Program at Boston College in Chestnut Hill, Massachusetts. I read, and read, and read; constantly, looking for vital information, which gives me a different perspective and teaches me new things on genetic testing, other genetic disorders, and life in general. Reading medical journals is great and all but I love reading actual books where the author has first hand experience with the topic being discussed—she is a breast cancer survivor. Books provide me with a deeper understanding that things, which besiege that issue, are not necessarily so black and white; various shades of grey emerge. The book discussed the dilemmas, hopes, and concerns of 64 women who undergo genetic testing for the BRCA mutation. These are the major points I’ve extracted from the book: •The “one size fits all” approach should not apply to those who require genetic testing; genetic testing situations are as diverse as the individuals who undergo it. continues on page 4 1 Waiting for Cancer to Come 1 NCCN Breast Cancer Screening Guidelines 2 Patient Story: Janette Cole 3 Current Management Guidelines for BRCA Carriers 6 Save the Date! 7th Annual Beyond Risk Conference NCCN Breast Cancer Screening Guidelines The National Comprehensive Cancer Network (NCCN) is a consortium of the leading cancer treatment and research centers in the U.S., including the James Cancer Hospital. The NCCN publishes annually updated guidelines covering screening and management recommendations for people with BRCA mutations. One significant change in the guidelines for 2014 was a recommendation that BRCA carriers no longer undergo mammograms before age 30. They call for annual MRI for breast imaging between ages 25 and 29, and then mammograms along with MRI annually from age 30. This arose from a number of pieces of evidence. Firstly there is evidence that women in the general public (without known BRCA mutations) have an increased risk for breast cancer if they have significant earlier radiation exposure in childhood and early adulthood.1 There has also been ongoing theoretical concern that BRCA carriers may be more susceptible continues on page 4