- By Catherine Schultz, MS, CGC
- Posted March 23, 2023
Ambry Genetics Diagnostic Dilemma: +RNAinsight® Reveals Lynch Syndrome in Sisters
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 …
- By Jodi Tahsler
- Posted March 8, 2023
International Women’s Day: Spotlighting Cathrine Keller, MD, A Woman of Substance
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, …
- By Jaime Burguieres
- Posted September 29, 2022
An Attitude of Gratitude: Jaime Burguieres’ Previvor Cancer Journey Guided by Ambry Genetic Testing
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, …
- By Emily Huebsch
- Posted September 27, 2022
A Different Kind of Patient: Emily Huebsch Empowers Herself and Others Against Breast Cancer
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 …
- By Jessica Profato, MS, CGC
- Posted January 4, 2019
3 Common Questions from Healthcare Providers about Genetic Testing
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, …
- By Carrie Horton, MS, CGC
- Posted October 3, 2018
Science In 60: Looking Beyond BRCA 1/2 to Identify Women at Risk for Breast Cancer
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 …
- By Erin Danielle
- Posted June 4, 2018
Strength and Survivorship: Honoring National Cancer Survivor's Day
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 …
- By Eve Mart
- Posted November 20, 2017
Genetic Testing May Have Changed Things for My Mom
*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 …
- By Valerie Smart
- Posted October 24, 2017
An 18-Year Survivor of Breast Cancer Shares Her Story
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 …
- By Nicole Schweppe
- Posted October 18, 2017
My Breast Cancer Journey, Part 2- How I Prepared for Chemotherapy
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 …
- By Souzan El-Eid, MD, FACS
- Posted October 17, 2017
A Breast Cancer Surgeon Offers Perspective on Patient Care
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 …
- By Nicole Schweppe
- Posted October 12, 2017
My Breast Cancer Journey, Part 1- Your Thoughts are Your Reality
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 …
- By Karen Malkin Lazarovitz
- Posted September 21, 2017
How I Lost My Lady Parts But Gained So Much More
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 …
- By Eve Mart
- Posted June 22, 2017
Do-It-Yourself Support Systems for Cancer Survivors
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 …
- By Deepti Babu, MS, CGC
- Posted April 14, 2017
Ambry Genetics and Leading Academic Researchers Collaborate to Improve Knowledge of Genetic Risk Factors for Breast Cancer
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 …
- By Eve Mart
- Posted February 16, 2017
The Ebbs and Flows of Sexuality After Having Cancer
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 …
- By Tiana Adams, PA-C, MBA
- Posted January 26, 2017
There's Nothing Like The New Year To Take Charge Of Your Health
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 …
- By Theresa Smith
- Posted January 19, 2017
So My DNA Is Messed Up...What Do I Do Next?
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 …
- By Bill Rotter
- Posted December 29, 2016
Let's Not Forget The Cancer Caregivers
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 …
- By Jackie Connor
- Posted December 18, 2016
Congratulations to the 2016 Battle for the Breasts Winners!
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, …
- By Eve Mart
- Posted December 15, 2016
Not Just For the Holidays: Thoughtful Gifts for Breast Cancer Patients
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 …
- By Jackie Connor
- Posted December 14, 2016
Dr. Fergus Couch Talks with Ambry about Recent Study Findings
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 …
- By Jackie Connor
- Posted November 16, 2016
Quality Genetic Testing and Why it Matters on Lifetime's 'Access Health' Television
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, …
- By Theresa Smith
- Posted November 10, 2016
These Are My Genetic Test Results… Please Don’t Shoot the Messenger
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 …
- By Jacqueline Washle
- Posted October 27, 2016
Surfing for Breast Cancer Awareness
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 …
- By Jackie Connor
- Posted October 26, 2016
Research Shows BRCA2 may be Linked to Brain Tumors
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 …
- By Bill Rotter
- Posted October 20, 2016
A Male Breast Cancer Perspective (repost)
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 …
- By Jackie Connor
- Posted October 20, 2016
Ambry Supports Breast Cancer Awareness Month throughout October
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 …
- By Eve Mart
- Posted October 13, 2016
Metastatic Breast Cancer - A Lack of Awareness and The Hurt it Causes
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 …
- By Tiana Adams, PA-C, MBA
- Posted October 6, 2016
Metastatic Breast Cancer: More Common Than You Think
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 …
- By Eve Mart
- Posted August 30, 2016
Metastatic Breast Cancer – a Lack of Awareness and the Hurt it Causes
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 …
- By Kelly Fulk
- Posted August 25, 2016
What are the Odds of Having a Gene Mutation?
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. …
- By Eve Mart
- Posted August 18, 2016
Putting Yourself First
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 …
- By Bill Rotter
- Posted August 16, 2016
Attending Breast Cancer Symposiums, Conferences and Research and Advocacy Seminars will Help Keep You in the Forefront Of Your Cancer
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 …
- By Aaron Schmidt
- Posted August 11, 2016
How Can You Use Social Media
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 …
- By Eve Mart
- Posted August 9, 2016
Why Social Media Is Important For People With Breast Cancer
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, …
- By Michelle Jackson
- Posted August 4, 2016
And Now, A Little Something For the Men Facing Hereditary Cancer
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 …
- By Tara Namey, MS, LCGC
- Posted July 28, 2016
What to Expect Regarding Your Health Care Following the Identification of a BRCA1 or BRCA2 Gene Mutation
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 …
- By Bill Rotter
- Posted July 28, 2016
Ways The Ambry Genetics HBOC Patient Website Would Have Been Helpful After My Breast Cancer Diagnosis and Genetic Testing
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 …
- By Bill Rotter
- Posted July 25, 2016
Emotional Impact and Reactions to Diagnosis and Treatment
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. …
- By Eve Mart
- Posted July 19, 2016
Relearning to Balance
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 …
- By Tameron Harvell, MSN, RN, FNP-BC
- Posted July 14, 2016
You are Not To Blame
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 …
- By Tiana Adams, PA-C, MBA
- Posted July 7, 2016
You Need to Know These: Signs and Symptoms of Breast Cancer
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 …
- By Bill Rotter
- Posted July 5, 2016
What Does Cancer Feel Like?
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. …
- By Deepti Babu, MS, CGC
- Posted June 30, 2016
What Healthcare Providers Learn from Their Patients
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 …
- By Eve Mart
- Posted June 28, 2016
What did Cancer Teach Me?
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 …
- By Alexandria Meyer
- Posted June 23, 2016
What Does a Family with Hereditary Cancer Look Like?
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. …
- By Bill Rotter
- Posted June 16, 2016
A Cancer Related Story of a Man's Best Friend
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 …
- By Eve Mart
- Posted June 14, 2016
What is the 'New Normal'?
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 …
- By Jessica Profato, MS, CGC
- Posted June 2, 2016
How We Can Increase Awareness Of Male Breast Cancer
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 …
- By Bill Rotter
- Posted May 30, 2016
Everything Pink...Maybe It's Time To Rethink
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. …
- By Eve Mart
- Posted May 24, 2016
Resiliency Is The Key To Life
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, …
- By Theresa Smith
- Posted May 19, 2016
Research & Clinical Trials, We all need to help!
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 …
- By Carin Espenschied
- Posted May 19, 2016
How Research Can Help
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 …
- By Dr. Robina Smith
- Posted May 12, 2016
Breast Cancer is Not Always Pink
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 …
- By Bill Rotter
- Posted May 10, 2016
My Doctor Ordered a Mammogram...But I'm A Guy
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 …
- By Eve Mart
- Posted May 5, 2016
Fear of Recurrence and Mortality
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 …
- By Eve Mart
- Posted May 3, 2016
Personal Impact of Peer Support
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 …
- By Theresa Smith
- Posted April 28, 2016
What About The Men? Time For Us To " Man Up"
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 …
- By Bill Rotter
- Posted April 26, 2016
Sharing My Diagnosis and Genetic Testing With Family and Friends
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 …
- By Eve Mart
- Posted April 19, 2016
Ride Marshaling at YSC Tour de Pink South
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 …
- By Michelle Jackson
- Posted April 14, 2016
Male breast cancer is rare, but it’s not that rarely inherited
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 …
- By Bill Rotter
- Posted April 12, 2016
A Male Breast Cancer Perspective
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 …
- By Eve Mart
- Posted March 29, 2016
Peer Support
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 …
- By Theresa Smith
- Posted March 8, 2016
These are my genetic test results... please don't shoot the messenger.
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 …
- By Eve Mart
- Posted March 1, 2016
Being a Survivor Doesn’t Mean You Can Ignore Me
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 …
- By Theresa Smith
- Posted February 23, 2016
What about my “foobies” surgery?
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 …
- By Dr. Robina Smith
- Posted February 18, 2016
Following Positive/High Risk Patients and Survivors
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 …
- By Eve Mart
- Posted February 16, 2016
Treatment to Survivor
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. …
- By Dr. Robina Smith
- Posted February 11, 2016
What to Expect from Surgery and Recovery
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 …
- By Theresa Smith
- Posted February 9, 2016
So I am supposed to chop off my breasts?
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 …
- By Eve Mart
- Posted February 2, 2016
Healthy Habits, Healthy Mind
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 …
- By Eve Mart
- Posted January 19, 2016
Giving Back and Paying it Forward
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 …
- By Theresa Smith
- Posted January 14, 2016
Watching and Waiting for Cancer
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 …
- By Dr. Robina Smith
- Posted January 13, 2016
Understanding Screening Guidelines
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 Deepti Babu, MS, CGC
- Posted January 8, 2016
3 reasons why this blog is worth your time
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 …
- By Dr. Robina Smith
- Posted January 7, 2016
6 questions to ask your doctor about your cancer diagnosis
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 …
- By Eve Mart
- Posted January 6, 2016
Being Your Own Healthcare Advocate
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 …
- By Dr. Robina Smith
- Posted December 31, 2015
How can I reduce my risk or prevent cancers?
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 …
- By Theresa Smith
- Posted December 29, 2015
Now that I know my DNA is messed up, what do I do next?
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 …
- By Jessica Profato, MS, CGC
- Posted December 24, 2015
What does it even mean to have a BRCA gene mutation?
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 …
- By Eve Mart
- Posted December 22, 2015
The Results of Genetic Testing Impacts Lives
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 …
- By Jessica Profato, MS, CGC
- Posted December 18, 2015
What do Genetic Counselors Do? (Original)
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, …
- By Theresa Smith
- Posted December 16, 2015
I tested positive for a gene mutation?
"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 …
- By Dr. Robina Smith
- Posted December 11, 2015
Knowing your hereditary cancer risks may save your life.
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 …
- By Eve Mart
- Posted December 9, 2015
"Five minutes ago, I was having lunch... and now I have cancer?"
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 …
- By Michelle Jackson
- Posted December 4, 2015
What is hereditarycancer.com and how can it benefit me?
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, …
- By Theresa Smith
- Posted December 4, 2015
The little voice inside me was whispering, "Something isn't right..."
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 …