We recently met with Texas OB/GYN, Dr. Noel Boyd. We learned about her passion for caring for the whole patient and helping to identify those at increased risk for cancer so that they can make proactive choices to address their risk. Dr. Boyd’s practice implemented The CARE ProgramTM, which stands for “Comprehensive Assessment of Risk and …
Dr. Noel Boyd is an OB/GYN who has been in private practice in a suburb of Houston, TX, for 21 years. The patients seen in her practice, Her Healthcare, range in age from 9 to 99, and she cares for them through everything from routine exams to high-risk pregnancy, from contraception counseling to cancer screening. “I really love taking care …
When it comes to breast cancer, Runi Limary has more personal experience than average. She not only spent time working at a nonprofit for people with breast cancer, but she was diagnosed herself at the young age of twenty-eight. When ACLU lawyers reached out to her about the court case regarding BRCA1 and BRCA2 patents to …
In recognition of Colon Cancer Awareness Month, Ambry would like to share the story of Jane and Julie Smith (not their real names) – sisters and cancer survivors. Jane was diagnosed with colon cancer in 2004 at the age of 36. While she was concerned about her diagnosis and family history of ovarian cancer, genetic testing was not widely available …
Being a “woman of substance” requires a passion for benefitting the greater good. Dr. Cathrine Keller has it in abundance. “We believe the greater good is to put our patients’ health and safety at the epicenter of every decision we make.” A woman of substance seldom has a neutral position. As a leader in the fight against breast cancer, …
When Jaime Burguieres was young, her 43-year-old maternal aunt was diagnosed with breast cancer. Burguieres watched her vivacious aunt go through painful radiation and chemotherapy treatments that seemingly eradicated her cancer at the time. A few years later, her aunt was diagnosed with Non-Hodgkin’s Lymphoma in the breast, stomach, and hip, …
Previvor: A person who has not been diagnosed with cancer, but has survived the predisposition, or higher risk, due to certain genetic mutations.* Breast cancer. Spoken in hushed tones, these scary words are often compounded by the aftermath of breast cancer deaths, creating a stigma around discussing breast cancer in regular conversations. With …
An estimated 266,000 women and 2,500 men will be diagnosed with breast cancer this year alone, and up to 10% of these may be hereditary. That’s over 26,000 patients and families whose lives could be significantly impacted by genetic testing, which can help guide personalized risk counseling and medical management. Multigene panels, like BreastNext, …
The adoption of multi-gene panel testing (MGPT) has been a game changer in the hereditary breast cancer arena. As evidence surrounding the growing number of breast cancer predisposition genes has accumulated, ATM, CHEK2, and PALB2 have stood out and become undisputed susceptibility genes conferring a moderate risk for …
From the moment I was diagnosed with breast cancer I knew there was something bigger out there for me. I've always believed that. I trusted that my cancer journey would bring me just one step towards whatever that 'bigger' is in my life. I’m a 37 year-old single mom to an incredible, hockey-playing, boxing 10 year-old boy, and about three …
*Editor's Note: In honor of Family History Day, which is on Thanksgiving, Eve Mart is sharing the story how hereditary cancer has shaped her relationship with her mother, and how genetic testing may have been able to help change the course of her mother's health. I often tell women “be your own best advocate”, and I truly mean …
My name is Valerie Smart. I’m a wife and mother with three beautiful children, two boys and a girl. And I am an 18 year breast cancer survivor. This is my story. I was diagnosed with a stage II ductal carcinoma (a type of breast cancer) in August of 2000. I had eight cycles of chemotherapy and 30 days of radiation followed by Tamoxifin. I lost …
I like to prepare for the worst but hope for best. When I started chemotherapy for my breast cancer, I knew what it meant for my hair and body. I was aware of the side effects and what each cycle could bring. To physically get my body ready for chemo I did a few things that might sound trite or shallow, but I knew they would help me feel somewhat …
An estimated 252,710 women will be diagnosed with breast cancer in 2017.1 Early detection of breast cancer is critical for successful treatment of this disease - women who are diagnosed with early stage/localized breast cancer have a 5-year survival rate of 98.9% 1 We hope that this Breast Cancer Awareness Month will inspire more people to discuss …
My breast cancer journey started on March 31st, 2017. I sat in the doctor’s office for my follow-up appointment after my lumpectomy. Before the lumpectomy, I was told I had less than a 1% chance of the tumor being cancerous by three different doctors. I sat there and told my doctor about my workout regime and that the incision was a little …
My story begins more than 9 years ago, when my father called me to say was having genetic testing. His cousin had just been diagnosed with ovarian cancer and had a known BRCA mutation. Many people I’ve spoken with have no idea that they can inherit this from their father, but I did. It is vitally important to meet with a genetic counselor before …
When I was originally diagnosed with breast cancer in 2008, I sought out a multidisciplinary approach to battle my illness, after learning that outcomes tend to be more favorable when compared to following traditional approach. As part of this dynamic approach, I met with various medical and social services professionals. I met with a social …
New clinical evidence collected from >65,000 women with breast cancer demonstrates 83% of positive test results are found in genes that impact clinical management Multi-gene germline genetic testing allows for efficient analysis, maximizing risk assessment while minimizing the time needed for results. This has been particularly effective …
I’ve put off discussing this topic because I didn’t know how or where to start. But two days after Valentine’s Day or otherwise, it’s relevant. I want to come from a place of positivity, but truthfully, I can’t seem to get there right now. It was more than 8 years ago that I went through treatment for early stage breast cancer, which …
What better time than now to take charge of your health? This time of year can be very busy for many people, but it’s also a great opportunity to start the year out right by seeing your doctor and scheduling an annual mammogram. The United States Preventive Services Task Force recommends that women at average risk for breast cancer who are …
Editor’s Note: At a time when we might consider the year ahead, we thought it helpful to re-post this entry from Theresa Smith, patient advocate, who offered her "next steps" after learning at age 45 that she carried a BRCA2 mutation. Sharing the news about my genetic test results with my immediate family was tough. I'll offer …
Having been diagnosed as a male with breast cancer almost three years ago to the day, I often reflect on how that diagnosis has changed my life forever. There was an immediate emotional impact that I felt that day, one I will never forget. I am quite sure that unless you have experienced the cancer journey, its many steps along the way are difficult …
The Mauli Ola Foundation has announced the winning team of their 3rd annual Battle for the Breasts (B4TB) online surf contest, as of the end of October, which was also Breast Cancer Awareness month. As a proud sponsor of the competition, Ambry would like to congratulate the winning team of professional surfer, Dimity Stoyle of Maroochydore, Queensland, …
This past year I had the honor of being selected as a Miami “Model of Courage” (MOC) for the Ford Warriors in Pink (WIP) campaign. As their mission statement says, “Ford Warriors in Pink is dedicated to helping those touched by breast cancer,through actions that support, inspire and empower patients, survivors and co-survivors throughout …
At Ambry we had the exciting opportunity to talk with Dr. Fergus Couch, Mayo Clinic Researcher, about his involvement with our Mayo Clinic research collaboration. “Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients,” which was the largest hereditary …
Genetic testing has become an impactful method for clinicians to help their patients confirm their chances of inheriting a genetic disease. Testing quality is an imperative element in determining a patient’s next steps and whether their family members should also be tested. On November 16th, Ambry CEO Aaron Elliott, PhD and Robina Smith, …
Editor’s Note: We are re-posting Theresa Smith’s entry to tie in with National Family History Day on Thanksgiving in two weeks in the U.S. Theresa was kind enough to update her piece on the importance of sharing family history and genetic test results, as challenging as it may be at times. Check back here in two weeks …
It seems as though breast cancer awareness is all over the media these days. Pink ribbons are exceptionally easy to find, and it is with good reason. About 1 in 8 women in the U.S. is diagnosed with breast cancer. Let that sink in for a minute. That really puts it into perspective! At Ambry Genetics, we are determined to lower that statistic …
In 2016, it is estimated that 246,660 new cases of breast cancer will be diagnosed in women and 2,600 cases in men and out of those cases, only about 5-10% will be hereditary. The most common cause for hereditary breast cancer cases are due to mutations in the BRCA1 and BRCA2 genes. Thanks to recent research at Ambry, it …
Editor’s Note: We are re-posting Bill Rotter’s entry in honor of Breast Cancer Awareness Month. It also coincides with an important time in Bill’s home state of Wisconsin; it is Male Breast Cancer Awareness Week from October 16-22, 2016. Bill was kind enough to update his piece to help raise the profile of men with breast cancer. Cancer …
In honor of Breast Cancer Awareness month, Ambry is proud to support many non-profit foundations and organizations, including the Mauli Ola Foundation’s 3rd annual Battle for the Breasts (B4TB). The B4TB is an online surf contest featuring 16 professional women surfers who are each paired with cancer clinics and/or foundations. Each …
Editor’s Note: In honor of Metastatic Breast Cancer Awareness Day, we are re-posting Eve Mart's piece on metastatic breast cancer to share her perspective as a patient advocate. Please share to help spread awareness. During the past 30 years, there has been a cultural shift in breast cancer advocacy and awareness activities. An …
Editor’s Note: In honor of Breast Cancer Awareness Month, we asked a Physician Assistant with years of experience in the field to tell us about a little-known form of breast cancer from the healthcare provider’s perspective. Next week’s post will focus on this issue from the patient advocate’s side of things. Please share to help …
During the past 30 years, there has been a cultural shift in breast cancer advocacy and awareness activities. An abundance of education efforts, as well as information and news coverage, have made breast cancer a familiar disease. There have also been significant strides made in early detection, research, treatment and patient empowerment during …
We all know that cancer is, unfortunately, a very common disease. You may have also noticed that certain types, like breast or colon cancer, are more common in some families than others. Some of this family clustering is caused by various hereditary cancer syndromes that are caused by gene mutations that can be found with genetic testing. …
When it comes to putting yourself first, I’d say to anyone else, ‘DO IT!’ particularly to someone who’s been through treatment for breast cancer, which is the equivalent of being put through hell and back. Truth be told, I need to practice more of what I preach. I often overextend myself on projects or requests made by others, and …
Soon after completing all of my treatment for male breast cancer I knew I was determined to stay on top of my cancer going forward. I know there are many advancements in finding cures for all types of cancers and I am committed to learning everything possible about my cancer diagnosis. Whether it happens to be in the area of new drugs …
Today, thanks to hectic work schedules and other increasing demands on everyone’s time, we are turning to social media for human interaction outside of the workplace. In turn, social media has become an important place for many to find others they can bond with over shared interests and experiences. As blogger Eve Mart pointed out earlier this …
I’ll be the first to admit, I don’t read many blogs or follow people’s cancer experiences on social media, but I do see the value in them. Networks built around cancer – whether through Facebook, Twitter, blogs or hosted communities – have a particularly active presence in healthcare social media. During the past few years, through Facebook, …
As a female genetic counselor, I can say I have counseled many men regarding their risk for hereditary cancer. I have seen the different reactions and responses they have had. I have looked for different information (from what I provided to females) to give to them, if it will help. I cannot say I have any idea what it is like to be a man …
When you learn that you have a BRCA1 or BRCA2 gene mutation, there are naturally questions as to what this will mean for your ongoing medical care and what you will need to do differently. The initial conversation with your healthcare provider will likely include a discussion about the options available to more carefully …
I was diagnosed with breast cancer in December of 2013, and soon after learned I had inherited a gene mutation that was passed on from my father’s side of my family. This overwhelming news was cause for great concern as much of what I had just learned was a lot to absorb. I was the first in my family to be tested for BRCA1/2 gene mutations even …
My diagnosis of breast cancer was extremely difficult to accept especially as a male with what typically affects women in 99% of all breast cancer cases. Where did this come from? Why me, having no known male breast cancer in my family? This shocking diagnosis left me with way too many questions in a world where I had so little knowledge. …
After cancer treatment, I was so relieved to be finished with the demands of treatment and ready to put the experience behind me. Ironically, I found myself feeling uncertain with what my future held. I was so fixated on a magic number… five years. In my mind, if I could just get five years out from treatment, I would be magically cured and the …
You’ve just received your genetic testing results and no mutation was detected! What a relief to know that your risk for cancer is no greater than that of the average population. Then you look over to your sister who has been told that she does carry a mutation which significantly increases her lifetime risk for cancer. She is faced with …
My name is Tiana Adams, and I am a practicing Physician Assistant with 18 years of clinical experience. During this time I have worked in many specialties, including Family Practice, Urgent Care, Occupational Medicine, Orthopedics and Breast Cancer Surgery. Currently, I am the Oncology Operations Specialist at Ambry. Moving into this role is …
Cancer affects us in many ways and can be difficult to detect until symptoms appear causing us to see a doctor. Many cancers grow inside of us and may take longer to detect. Other cancers, such as in my case with breast cancer, can be felt as a small lump. Knowing what cancer feels like may be important in detecting cancer at its earlier stages. …
When you go to an appointment with your healthcare provider, what do you expect? Information. Discussion. Compassion. Maybe a plan. And for good measure, a joke or two? That’s what I expect, anyway, when things are going well. That combination definitely shifts if things aren’t going well with my health. Then I expect to learn facts, offered …
It might seem difficult to comprehend, but I think cancer taught me a number of profound life lessons that few people realize until it’s too late. I don’t think I stand alone in that thought. In the face of breast cancer, I’ve seen many women show remarkable strength and do things even they never thought they could do. “You never know …
It’s easy and natural to assume that if you have a family history of something, then that something may be genetic. I think this is especially the case when it comes to cancer, as nearly everything we hear in the media and in our culture hammers home the idea that if you have a family history of cancer, you are at an increased risk for it. …
Only weeks after I completed all of my treatments for breast cancer in the fall of 2014, my wife and I decided to get a dog to replace the one we had to put down the previous April for medical reasons. We had always had dogs in our family and we felt the void of not having one. We decided on a rescue dog and not a puppy as we both worked and …
What is the new normal after you've been diagnosed with cancer and spent a year of your life, if not more, going through treatment and you've come out on the other side a little worse for the wear, but alive and seemingly in tact? Often you talk in clichés or read something that resonates and repeat it to yourself almost like a mantra: "What doesn't …
It has been mentioned in previous posts that there is limited awareness about the fact that men can get breast cancer, and that this limits the options men have for support. It only makes sense for us to consider how we in the medical community, as well as society in general, can do a better job of this – raising the profile for male breast …
Having breast cancer as a male is challenging enough without having all references to breast cancer recognized in the color pink. Since my diagnosis 2-1/2 years ago, I have been asked to take part in fundraisers and to raise awareness for breast cancer. I don’t object to participating in either, however, my struggle is that everything is pink. …
I was diagnosed with breast cancer at a relatively young age. I had just turned 35 years old. I went to the gym every day and was seemingly healthy and fit, and now I had been diagnosed with breast cancer. What was I going to do? I never considered myself a vain person until faced with decisions that would mean losing my hair and my breasts, …
Being BRCA2 positive has been challenging for the entire family. After figuring out my plan of action as far as surgeries, lifestyle changes, and surveillance, I was left with a strong feeling of what else can I do to help other families and contribute to medical advancement. I hope this blog is helping other families navigate through …
Clinical research can take many forms and can have several different outcomes. In some cases, researchers are studying whether there is a link between a particular exposure, gene, or other risk factor and a certain disease, such as cancer. In other cases, researchers may study whether a certain drug or treatment works for a certain disease …
Did you know that the third week in October is Male Breast Cancer Week and the male breast cancer ribbon is pink and blue? Most people do not, just as most are surprised to learn that men can even have breast cancer. Unlike female breast cancer, male breast cancer (MBC) is rare, accounting for about 1% of all cancers diagnosed in men. For men …
In my opinion, every guy should have the experience of having a mammogram at a women’s clinic… never. When I think back in my lifetime to all the uncomfortable experiences I have encountered, few can rival walking into a clinic designed for women to have a mammogram. From the moment I walked in, I knew this would be a life-altering series …
I would imagine it’s normal to face some degree of depression, anxiety, and fear when cancer becomes a part of your life. I have always felt lucky that my cancer was caught early enough that the doctors were able to get it all out with my surgery and 8 chemotherapy treatments. I continued to undergo ovarian cancer screening until having …
As a breast cancer survivor I think I experience a bit of Survivor Guilt. I occasionally wonder, “Why me and not them?” Or rather, why hasn’t this disease been eradicated yet and why aren’t we ALL survivors? It hurts me to the core to know that I will lose more friends and possibly even my mother to the same disease that I have been …
For a woman being diagnosed with a BRCA2 gene mutation, there is a ton of information specific to cancers for women, but what if you are a man? The amount regarding male breast cancer, hereditary prostate cancer, and hereditary pancreatic cancer is limited. In addition, public awareness about these conditions is limited. Considering …
While it’s difficult for anyone to come to grips with a cancer diagnosis, it becomes more challenging having to share the news with family and friends. Especially when you are a man telling them you have breast cancer. People may look at you with a deer in the headlights stare….men get breast cancer? This was the reaction from many, as …
As I said in my last post: ”Breast cancer survivors share a connection, and I’ve come to learn that in some unconscious way by helping others, I’m helping myself to heal and spin a positive out of something that was negative.” This past weekend, I had the honor of ride marshaling at the Young Survival Coalition’s (YSC’s) inaugural Tour …
When I was a clinical genetic counselor, I met with many men who had been diagnosed with breast cancer for genetic counseling and genetic testing. Counseling male breast cancer patients about genetics was often very different for me than counseling female breast cancer patients. I think the main reason for that is men and women are different and …
Cancer is a difficult and tricky disease that tries to destroy us but now we are better prepared to fight back due to a stronger understanding of the disease. Cancer does not discriminate. As a male, the day I learned I had breast cancer was one of total disbelief and overwhelming shock. A diagnosis I was not prepared for. Sure, I knew men …
I hadn’t set out to be the “go-to-girl” for all things breast cancer, but when you’re faced with a challenge and come out on the other side fairing pretty well, I think people trust you. Maybe they’re just looking for positive support wherever they can, when they find themselves in a similarly difficult spot. It starts with a phone …
The initial shock from receiving my positive results for the BRCA2 gene mutation was now turning into "a low grade fever" of concern, which was my new reality. I already explained the news to my immediate family, but I started thinking about all the extended family members my result could affect, too. My extended family is large - over …
My mom was first diagnosed with breast cancer in 1989, when breast cancer was still whispered about and long before Angelina Jolie put genetic testing on the Hollywood map. My mom complied with the treatment recommended for her at the time, which included a lumpectomy, chemotherapy and radiation. Eighteen years later, in 2007, I was 34 years old …
I did finally come to terms with my decision to have a preventive bilateral mastectomy to lower my risk of breast cancer from my BRCA2 gene mutation. I was scheduled with my surgeon, but I was put on a rolling schedule, which meant my date was not set in stone. I asked at what point I got to keep my surgery date, instead of my date being …
According to the National Cancer Institute SEER (Surveillance, Epidemiology, and End Results) stat fact sheet on female breast cancer there were an estimated 12.3% of women living with breast cancer in the United States in 2012. 98.6% of breast cancer survivors diagnosed with early stage breast cancer are alive after 5 years or more. As early …
Being a breast cancer survivor isn’t a static label. For me, being a breast cancer survivor has added another layer to the person I am and have become, and that has been an evolutionary process. It took time to get my energy back, but I now happily maintain a very active lifestyle. Again, it took time, and patience was not my strong suit. …
Whether a woman is facing the decision to have breast surgery as a treatment option for cancer or she is being proactive and having a preventive procedure done to reduce the risk of ever having cancer, the decision is not an easy one. Surgery can be a frightening experience for some people, and rightfully so. Although surgery is designed to physically …
When I was offered the option of having a preventive bilateral mastectomy, it was so overwhelming. I couldn’t think about. I couldn’t talk about it with anyone. I didn’t research the procedure. I just put off thinking about it entirely. I couldn’t handle it emotionally, and the thought of what it would do to me physically was very scary …
The funny thing about ‘healthy habits’ is that you can do everything ‘right’, but there are no guarantees in life. For me, breast cancer is hereditary. he·red·i·tar·y Something (like a health problem, like cancer) that is due to inherited genetic changes (mutations), which can be passed from parent to child. I have a BRCA1 gene …
Having been directly affected by breast cancer, it would be impossible to expect that it hasn’t altered my perspective on the important, and not so important, things in life. I feel an intense need to pay it forward or, shall I say, give back. I’ve lost several friends to the very same disease, and now my mother lives with metastatic breast …
So I met all the doctors. What now? All the information and options were given to me, and it was overwhelming, to say the least. I was considering both preventive surgeries (full hysterectomy and preventive bilateral mastectomy (PBM) with reconstruction). I was playing the “odds versus timing” game in my head: “If I wait until I’m X years …
Cancer is smarter than man. It develops whenever it wants to without asking for permission from us. That is a fact. However, medicine has evolved over centuries to the point that we can predict which population is at risk for certain cancers. We have also developed processes that allow for us to check for the presence of cancer. This is the process …
By now, I hope some of you are coming to hereditarycancer.com regularly to poke around, and to check for new "BRCA & Beyond" posts. If you're not a regular, welcome! If you are familiar with our blog, you'll notice that I'm a new voice to the mix. My name is Deepti Babu, and I am a genetic counselor. After working with families in a hospital …
Doubt, anger and confusion. These are understandable feelings to have, if you or someone close to you discovers that you/they have cancer, or may carry genes that increase the risk for cancer. What does that mean? What happens now? What is cancer? You may have been given unexpected news and may not know where to turn, who to see, or what to …
There is no manual to this cancer thing. I quickly learned that I would have to be my own best advocate. In my case, my primary healthcare physician wasn't involved in the course of my cancer treatment. Maybe my situation was atypical, given that my radiologist was the father of a close friend. I had been diagnosed with breast cancer and the pathology …
These two questions are commonly asked when someone realizes that they (or their family member) have an increased risk to develop a particular cancer in their lifetime. It should be understood that every living person has a small chance to develop various cancers throughout his/her life. Cancers are a group of more than 100 diseases that occur …
Sharing the news about my test results with my immediate family was tough. I'll offer some thoughts here based on my experience, but you'll know what works best for you. The adult conversations I had ended up with me being asked a lot of questions, and I didn't even yet know the answers. If this happens to you, you could consider sending adult …
Our "BRCA & Beyond" blog continues to be a place where we discuss and share information about important topics surrounding BRCA1/2 mutations, and we hope you find it helpful. For this post, I wanted to share some scientific background with you about what it actually means to have a BRCA1/2 (often referred to as "BRCA") gene mutation that …
Before my breast cancer diagnosis, I had a brief conversation with my OB/GYN physician regarding my potentially increased breast cancer risk. I was coming up on my 35th birthday, and thought it might be responsible to schedule a baseline mammogram. I don't recall anything remarkable about that conversation with my doctor. She provided me with …
My name is Jessica Profato-Partlow. I am a relatively new member of the Ambry Genetics family, and very excited to be a part of Hereditarycancer.com. As a clinical genetic counselor prior to joining Ambry, I spent several years providing hereditary cancer genetic counseling services to many families at a busy cancer hospital. In that setting, …
"You have tested positive for a BRCA2 gene mutation. .." Really? Are you sure? "Yes," the geneticist says, "...here are your results." You have a mutation in your DNA, "6503delTT." Although I knew I may be positive for the BRCA genetic mutation, I convinced myself over the eight weeks I had to wait for the results, that I probably …
As a breast cancer surgeon, it is obvious to see where my commitment and compassion lie. Serving and saving the lives of women (and men) affected by breast cancer is why I pursued a breast surgery fellowship and specialized solely in Breast Surgical Oncology. Besides treating patients diagnosed with breast cancer, I also managed and treated women …
My name is Eve and I am a breast cancer survivor. Sounds like an introduction at an AA meeting. Let's try this again... my name is Eve and I am a vivacious, animal loving, bicycle riding, paddle boarding, educated professional who happens to also be a 7-year breast cancer survivor at the age of 42. Sound better? Being a breast cancer survivor …
My name is Michelle Jackson. I am a genetic counselor that began working at Ambry Genetics after years providing genetic counseling to many families in a busy cancer hospital. I know firsthand how cancer has affected my family, but also how it has impacted the thousands of families I saw before I came to Ambry. I am also a mother, a wife, …
My name is Theresa Smith, and I grew up in beautiful Laguna Niguel, CA. I am part of a large, loving family where many members have been affected by hereditary breast and ovarian cancer. I plan to share with you my experiences and hope, which may help you on your journey. My stories and experiences may be very similar to what you are going …