- By Jodi Tahsler
- Posted April 11, 2023
Meet the Gene Team: Jeni Herrera-Mullar, MGC, CGC, DMA, presents the Gene of the Month, MSH3
Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our second installment, we would like to introduce Jeni Herrera-Mullar, MGC, CGC, DMA, Principal Clinical Scientist at Ambry Genetics. Jeni is …
- By Jodi Tahsler
- Posted November 10, 2022
A Q&A with My Faulty Gene founder Kathy Baker
My Faulty Gene is a nonprofit organization that provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. They believe that everyone in need of genetic testing should have access to it. We sat down with Kathy …
- By Jessica Profato, MS, CGC
- Posted June 8, 2018
I Survived Cancer, so Why do I Need Genetic Testing for it?
As a clinical genetic counselor, I saw many cancer survivors for genetic counseling. In some cases, it had been 30-40 years since they were diagnosed. Some of them were in their 60s-70s when I saw them, but they were young at the time of their cancer diagnosis. Years later, they were referred to me to talk about the possibility that their …
- By Laurie Curtis
- Posted September 28, 2017
How my Genetic Counselor Provided Guidance When I Needed it Most
I went in for genetic testing because cancer runs in my family: My maternal grandfather had prostate cancer; his sister had an unidentified cancer; my mother died from ovarian cancer; both her sisters have had breast cancer, one of which had bilateral breast cancer, 18 years apart; and 2 of my 3 female cousins have had breast cancer. One cousin …
- By Deepti Babu, MS, CGC
- Posted April 3, 2017
Current Genetic Testing Guidelines Miss Some Families with CDH1 Mutations
Hereditary diffuse gastric cancer (HDGC) is an inherited cancer syndrome caused by CDH1 gene mutations. It occurs most frequently in Japan and eastern Asia; current incidence in the U.S. is estimated at 10-40 individuals per 100,000.1 Individuals with mutations in the CDH1 gene have up to an 80% lifetime risk of diffuse gastric …
- By Bill Rotter
- Posted March 16, 2017
Why I Liquidated my Business to Advocate for Male Breast Cancer Awareness
Several years prior to my breast cancer diagnosis, I started to think about the right time to liquidate my business and sell the real estate. At the time, my brother and I owned two Ace hardware stores in the Milwaukee area with approximately 100,000-sq. ft. of retail space, warehouse and offices. I knew it would be a physically daunting undertaking …
- By Selvi Palaniappan, MS, CGC
- Posted March 9, 2017
Individual Genetic Test Results Lead to Individual Considerations
As a genetic counselor specializing in cancer genetics, I’m happy to be contributing to the Ambry patient blog during National Colorectal Cancer Awareness Month. Colorectal cancer can happen by chance, but it can also be inherited. Your doctor or genetic counselor can evaluate your family history to determine if you should consider genetic testing …
- By Georgia Hurst
- Posted January 5, 2017
Overcoming My Death Anxiety Related To Lynch Syndrome
The new year leaves me contemplating where I am now, and where I have been to get here. When I discovered I had Lynch syndrome more than five years ago, I was absolutely horrified and developed death anxiety. Every single aspect of my life became magnified. I could not help but feel as though a ticking time bomb had been strapped to my back – …
- 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 Deepti Babu, MS, CGC
- Posted July 20, 2016
It's Complicated: Sharing Your Genetic Test Results
I feel funny writing about sharing genetic test results with family when I’ve never done it myself, but don’t let that stop you from reading… I’ll draw upon my years in the clinic as a genetic counselor, speaking to many families about this topic, and offer thoughts from my side of the table. I have seen that it’s complicated for …
- 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 Georgia Hurst
- Posted May 9, 2016
No Mud, No Lotus
Zen master Thich Nhat Hanh believes if people face and embrace their suffering, they will eventually grow from it and possibly turn it into something beautiful and meaningful... Hence the phrase: No mud, no lotus. Five years ago after I was diagnosed with Lynch syndrome, I found myself mired in mud – I had no idea what would emerge …
- 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 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 Theresa Smith
- Posted April 22, 2016
Previvor’s Perspective – A Daughter’s Feelings
It was a year after I had tested positive for the BRCA2 gene mutation before I found out about the status of my three children. My oldest, my son, and my youngest daughter were both negative (huge relief). My middle daughter, Jenna, unfortunately tested positive for the same mutation I have. She is 23 years old now and is graduating …
- 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 Theresa Smith
- Posted April 7, 2016
What Can I Do Until My Children Can Be Tested?
Dealing with your own BRCA1 or BRCA2 genetic testing results is one thing, but worrying about testing for your children is another. Especially when they are under 18 years old. There is a very real possibility that people will have to wait for years for their kids to find out if they are positive or negative for the mutation. There …
- By Jessica Profato, MS, CGC
- Posted April 5, 2016
When should my children be tested for hereditary cancer?
When I was a clinical genetic counselor, each patient that I met with for genetic counseling had some different questions about how their positive genetic test results could impact their care or that of their family members. A common theme among patients who had children was that they wanted to know if, when, and how their children should …
- By Theresa Smith
- Posted March 22, 2016
Hang on a Minute, Let’s Think This Through
After testing positive for a mutation in my BRCA2 gene, I was on high alert. I rushed to all my doctor’s appointments and gathered a lot of information regarding preventive surgery options. I also did a lot of research on the statistics and newer medical studies regarding BRCA1 and BRCA2. I evaluated everything based …
- 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 Jessica Profato, MS, CGC
- Posted February 4, 2016
Coping with Cancer: 5 Lessons from my Patients
As a clinical genetic counselor, a big part of my job was educating my patients about the basics of genetics and hereditarycancer. Another equally, if not more, important part of my job was to talk to them about how a diagnosis of cancer, a positive genetic test result, or a combination of the two was impacting their life and those of their …
- 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 Dr. Robina Smith
- Posted January 28, 2016
Preventive Oncology
To this date, we cannot totally prevent cancer from forming; however, for certain cancers we can reduce the risk of it developing. Approximately one half of cancer cases can be prevented by modifying risk factors or by early detection of precancerous lesions. For breast and ovarian cancers, approximately 10% will develop due to hereditary predisposition. …
- By Theresa Smith
- Posted January 26, 2016
You want to take my ovaries out?
I was diagnosed with a BRCA2 gene mutation on August 1, 2013. My surgery for a complete preventive hysterectomy (to remove my ovaries, Fallopian tubes, cervix, and uterus) was just six weeks later on September 11. I requested to undergo BRCA1/2 genetic testing as a “tie breaker” to help me decide if I should have the surgery, …
- 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 …