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Chemotherapy HER2-Mutant Immunotherapy Lung Cancer Non-Small Cell Lung Cancer Patient Stories Treatments

Samantha’s Stage 4 HER2 Non-Small Cell Lung Cancer Story

Samantha’s Stage 4 HER2-Lung Cancer Story

Interviewed by: Stephanie Chuang
Edited by: Katrina Villareal

Samantha M. feature profile

At 37, Samantha was diagnosed with HER2 non-small cell lung cancer. Her symptoms started with a cough and chest pressure, so she went to urgent care. A cancer diagnosis was one thing, but a lung cancer diagnosis with no smoking history was mind-numbing to her. This is Samantha’s story of navigating a lung cancer diagnosis young and discovering a rare biomarker too.


  • Name: Samantha M.
  • Age at Diagnosis:
    • 37
  • Diagnosis:
    • Non-Small Cell Lung Cancer (NSCLC)
  • Staging:
    • Stage 4
  • Mutation:
    • HER2
  • Symptoms:
    • Persistent cough
    • Chest pressure
    • Fatigue
    • Weight loss
  • Treatments:
    • Chemotherapy
    • Immunotherapy
Samantha M.

Bayer

Thank you to Bayer for its support of our patient education program! The Patient Story retains full editorial control over all content.

This interview has been edited for clarity and length. This is not medical advice. Please consult with your healthcare provider for treatment decisions.



I went on a women’s trip in March 2024. When I came back from the trip, I developed a cough and noticed some pressure on my chest.

Introduction

I was born in California, raised in Hong Kong and the UK, and went back to the US around 12 years ago. I’m an active, outdoor adventurer. I love hiking, backpacking, camping, and anything to do with nature and being outside.

My husband Justin and I have been married for seven years. He is my absolute world and soulmate. I also have a nine-year-old German Shepherd.

Samantha M.
Samantha M.

Pre-diagnosis

Initial Symptoms

I went on a women’s trip in March 2024. There were 20 of us going on this adventure together even though I had never met them before. We were going to travel to India for 10 days. Before the trip, everything felt completely normal.

When I came back from the trip, I developed a cough and noticed some pressure on my chest. The air is not the best in India. A lot of people developed a cough, so I didn’t think anything of it, but the chest pressure was bothering me.

Two weeks after my trip, I was still hiking 4 to 5 miles a day, but there was a lot of pressure going on. I went to urgent care where a doctor listened to my chest and said, “Let’s do a chest X-ray to see what’s going on.”

The results showed that my entire left lung was full of fluid and fully collapsed. He said, “You need to go to the emergency room immediately.” I was still very naive then, thinking it was something I contracted from my trip.

They said, ‘We had a chance to look at a biopsy of one of the lesions in your liver and the fluid in your lungs, and it’s looking to be more and more like cancer.’

Diagnosis

Getting a Cancer Diagnosis

I went to the emergency room and they admitted me right away. They put in a chest tube, which was not a pleasant experience, and ended up draining 3 liters of fluid from my lung. They took that off for testing and did multiple CT scans. Even though I was admitted to the hospital, I was getting information about my scans through the apps. My result came through before the doctor even spoke to me. It said multiple lesions on the liver and lungs.

The infectious disease doctor came in and started asking me a ton of questions. They thought I might have tuberculosis because I’d lived and traveled to a lot of foreign countries, so they were very confused and running tons of tests.

Unfortunately, on day three of the hospital admission, they said, “We had a chance to look at a biopsy of one of the lesions in your liver and the fluid in your lungs, and it’s looking to be more and more like cancer.” They couldn’t give me a guarantee at that point, but this was looking like it. They said, “We’re going to discharge you. We’ll wait for confirmation, but we’re lining up an oncology appointment for you right away.” That’s when my world spiraled.

Samantha M.
Samantha M.
Playing the Waiting Game

We were living in Missoula, Montana, where my husband was stationed. The wait for the general oncologist was two weeks. There was no specialist there. After all, it was such a small town. That period was awful. It was confirmed through the app that I did have cancer, but I had no doctor to bounce anything off or ask questions.

At that point, it didn’t say what stage I was, and not being too familiar, I didn’t know what stage 1 versus stage 4 meant. I had no idea. I didn’t know anything other than I had non-small cell lung cancer.

I was spiraling on Google, which is not your best friend at this time of diagnosis. I figured out I was stage 4 and learned the five-year survival rate. I was doing more digging and came across mutations all this information on mutations.

I was eventually diagnosed with HER2 mutation, which was one I had never heard of.

When I went into that initial oncology visit, I had a list of questions, but the number one was if I could get a biomarker test for genetic mutations. He said, “Absolutely. It was on my list. You’re good because I know a lot of oncologists in these smaller towns are still not aware of these biomarker testing and treat lung cancer when someone could have a targetable mutation.”

I learned a lot about mutations during that two-week waiting period. I was eventually diagnosed with HER2 mutation, which was one I had never heard of. I didn’t come across it on any websites. It was a two-week window of the unknown with the fear and concern that I didn’t have long to live.

At my first oncology appointment in Missoula, he told me that I was stage 4, I was terminal, and had nine months to live. He told me before he even knew what mutation I had. No one should be told how long they have to live like that. It doesn’t help anyone. It set my mind back a long way. It was devastating.

Samantha M.
Samantha M.
Reaction to the Diagnosis

My husband, who was a 19-year veteran at this point, used to be a combat medic in Iraq and Afghanistan, so he’s seen a lot and I had never seen him cry ever. When I got that diagnosis in Missoula, he went outside the hospital and broke down. That was hard to see and almost harder for me than receiving the news personally. We’re so young. It was heartbreaking because he’s my soulmate. Knowing that I’m not going to be around and be with him when we’re 80 years old is gut-wrenching.

It hit him hard. He’s been an incredible caregiver. He’s been to every single appointment. He now handles the app for me and looks at all of my results. He’s been exceptionally supportive. I couldn’t ask for a better caregiver, but I would say it’s probably had more of an impact on him than on me.

Honestly, I had a breakdown… I thought that was the end of my journey because there was no primary targeted treatment for HER2.

Seeing a Lung Cancer Specialist

My husband said, “We’ll see this oncologist here, but let’s get you to a research hospital. Let’s see if the army will move us.” Within a month, the army approved the move. We were 45 minutes away from the Huntsman Cancer Institute. They have been so supportive and my work has also been so supportive.

I’m very grateful because I know a lot of people are not in that situation, especially those who are young, have cancer, and work full-time jobs. We put our house up for sale and within a month of my diagnosis, we had fully moved to be settled and to see a lung oncologist in Salt Lake City.

I learned to advocate for myself constantly. I was pretty forceful in messaging the Huntsman saying, “I need to get in as soon as possible. The general oncologist referred me. This is their letter.”

Samantha M.
Samantha M.

I was fortunate to get the best thoracic oncologist at the Huntsman. They looked at my chart and saw the severity of my stage 4 diagnosis. They got me in very quickly and wanted to redo my scans. They did a CT scan and a PET scan, which I hadn’t had at that point. They said, “We’re sending biomarker testing off the blood and also take a sample from Missoula and submit that as a tissue sample.”

They didn’t want to start any treatment until my biomarker test results came back, which took about two weeks. Meanwhile, my lung was continuing to fill up with fluid, so I had to get drained regularly. I was still active and nothing was stopping me. I was hiking at 10,000-foot elevation and I had no issues, but I felt very, very tired.

My biomarker test results came back and said HER2. I had never heard of HER2 in my life. I thought, “What on earth is this? What am I going to do with this?”

Honestly, I had a breakdown because I had been part of groups that talked about EGFR and ALK, all these great drugs, and people doing so well as young people on these targeted therapies. I said, “This is it. I keep on getting hit over and over again with bad luck and this is the final straw.” I thought that was the end of my journey because there was no primary targeted treatment for HER2.

Learning About the HER2 Biomarker

I started researching on Google, which wasn’t the best idea because when you search lung cancer and HER2, it says you do not have a very good prognosis at all and that wasn’t what I wanted to hear. That and not seeing anything about a primary targeted therapy was heartbreaking.

Samantha M.
Samantha M.
Finding Hope While Learning from Other Patients’ Experiences

I was introduced to someone who is part of an exon 20 group. I spoke to her within 24 hours of knowing that I had HER2 and she spent about an hour explaining everything: what was on the horizon as far as treatment was concerned, what was currently under clinical trials, and all of this hope.

I went from absolute turmoil, thinking this was literally the end, and that I have the worst prognosis to there could actually be some hope here and that changed my entire attitude. A lot of HER2 patients, when they find out about their mutation, aren’t told about the hope. They aren’t told about what’s coming. People have no idea unless they’re educated by other people.

I wanted to start treatment, so we decided on traditional chemo and immunotherapy and started that within a week.

Treatment

Treatment Options for HER2 Mutation

My oncologist is incredible. He called me right away and said, “Look. This isn’t what I was expecting either, but this is what we have.” He was trying to find silver linings. He said, “You have to come in every three weeks to get treatment, but your mutation works with immunotherapy. Your mutation can work with traditional chemo.” He was giving me some hope and that’s all I needed to hear.

He wasn’t an expert in HER2. I don’t think he has any other HER2 patients, but I was also fortunate because my coworker’s husband’s best friend is a HER2 expert and he’s been an incredible resource who I can text and get information or reassurance. Having those two resources has been invaluable.

My oncologist laid out what chemotherapy and immunotherapy I would be on. He also offered up a clinical trial, which split chemo and immunotherapy separately by a week, instead of combining them for a couple of rounds. He thought that I would be a good candidate.

Samantha M.
Samantha M.

Meanwhile, the HER2 expert who I was talking to was telling me about an amazing clinical trial for a drug for HER2 that was looking for people who had not been treated yet. My oncologist didn’t know about that trial, so I brought it up with him and he was kind enough to look into the research, look into the statistics, and weigh the options for me.

He said, “At the end of the day, it’s up to you which one you would like to proceed with, but here are my thoughts.” He was leaning towards traditional chemo and immunotherapy because immunotherapy had foundational success in the long run. The clinical trial was still in its early days in knowing what the outcome would be in the long term.

I also didn’t want to wait. Joining a clinical trial in another hospital involved flying, getting scans again, etc. I wanted to start treatment, so we decided on traditional chemo and immunotherapy and started that within a week.

As weird as it is to say this as a stage 4 cancer patient, chemotherapy and immunotherapy can do wonders.

Response to Treatment

I was responding extremely well and I’m very fortunate that I don’t have that many side effects at all. I have a couple of days of low energy, but other than that, I have been able to live my life, hike, and work.

I spoke to my husband and as weird as it is to say this as a stage 4 cancer patient, chemotherapy and immunotherapy can do wonders. There’s a horrible misconception that chemo and immunotherapy are awful and they don’t do anything. I get very upset about that because it has changed my life and has done amazing things for my body. I haven’t felt this well in years.

Looking back, even though I didn’t have very apparent symptoms, I was tired all the time. I would take naps during the day. I would be exhausted after 10 hours of sleep. I lost five pounds when I’ve never lost weight in my life. There were very subtle signs and if you look at pictures of me, I didn’t look well.

I’m feeling great right now. It’s like a double-edged sword because I have stage 4 cancer, but the chemo and immunotherapy are reducing my cancer burden so much that I feel like normal Samantha again.

Samantha M.
Samantha M.

Having Hope with a HER2 Biomarker

There’s a lot of hope. A HER2 mutation is not an immediate death sentence by any means. We don’t have a targeted therapy right now but that doesn’t mean it’s the end of the line. There are options out there.

Knowing that there are targeted therapies coming out very soon through clinical trials with statistics that show that they work exceptionally well is invaluable.

There’s a lot of hope. A HER2 mutation is not an immediate death sentence by any means.

Words of Advice

You see online that if you eat healthy and you exercise, there’s a very low chance you’re going to get cancer and I don’t like that at all. It makes me very angry and very upset because that makes people who are fit and healthy and doing all the right things think that they’re not going to be touched by cancer.

People must be aware that cancer does not discriminate. It doesn’t care if you’re fit and healthy. It will be in whoever it wants to be and that’s a fact.

Listen to your body. Be in touch with changes. If you have a lump, if you have a weird cough that has continued for months, if you have a weird mole that you’re not sure about, don’t wait.

If your gut is telling you something is wrong and your doctor says it’s fine and not to worry about it, get a second opinion. Push and be that person and get the answers you need to get. You have to advocate for yourself.

Samantha M.

Bayer

Special thanks again to Bayer for its support of our independent patient education content. The Patient Story retains full editorial control.


Samantha M. feature profile
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More Non-Small Cell Lung Cancer Stories

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Symptom: No apparent symptoms

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Symptoms: Two bouts of severe pneumonia despite full health
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Terri C., Non-Small Cell Lung Cancer, KRAS+, Stage 3A



Symptoms: Respiratory problems
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Symptoms: Numbness in face, left arm and leg

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Categories
Chemotherapy Colon Colorectal dexamethasone Hemicolectomy Metastatic Patient Stories Steroids Surgery Treatments

Jessica’s Stage 4 BRAF Mutation Colon Cancer Story

Jessica’s Stage 4 BRAF Mutation Colon Cancer Story

Interviewed by: Taylor Scheib
Edited by: Katrina Villareal

Jessica T. feature profile

Jessica was diagnosed with stage 4 colon cancer at 26. Four months before her diagnosis, she began experiencing intense episodes of stomach cramps, diarrhea, and vomiting, which would last for 48 hours. She initially thought she had a gluten intolerance and visited emergency doctors several times. They misdiagnosed her with gastroenteritis and prescribed ineffective medication

Frustrated by the recurring symptoms, Jessica pushed for blood tests, suspecting something more serious. During a particularly severe episode of stomach cramps, she called an ambulance and was taken to the hospital. Blood tests revealed that she was severely anemic, requiring multiple blood transfusions. A subsequent CT scan suggested the presence of a tumor in her colon. Despite some reluctance from doctors to comment on the findings, a colonoscopy confirmed the diagnosis.

Jessica described the colonoscopy as a traumatic experience since she was awake during the procedure and could sense something was wrong. Afterward, she was told she had a tumor blocking part of her colon, causing her digestive issues. Although it wasn’t immediately confirmed as cancerous, Jessica underwent surgery to remove half of her colon (a hemicolectomy), during which 36 lymph nodes were tested. The results showed that the cancer had spread, confirming stage 4 colon cancer.

Jessica faced a roller coaster of emotions when told she had the BRAF genetic mutation, which is resistant to chemotherapy. However, a post-surgical PET scan revealed no remaining cancer in her body, which was a miracle. Despite the initial bleak prognosis, she completed six months of chemotherapy and has been in remission since November 2022.

Throughout chemotherapy, Jessica experienced manageable side effects, including fatigue and neuropathy. Mentally, she remained optimistic, having come to terms with living a fulfilling life regardless of her prognosis. Her treatment gave her a new perspective on life, changing her outlook on relationships and personal boundaries. She acknowledged grieving her old self but ultimately embraced her transformed identity.

Jessica’s message to others is that they are stronger than they realize. She encourages people to see difficult experiences as temporary and reminds them that life can look vastly different in a year, offering opportunities for growth and new perspectives.


  • Name: Jessica T.
  • Diagnosis:
    • Colon Cancer
  • Staging:
    • Stage 4
  • Mutation:
    • BRAF
  • Symptoms:
    • Severe stomach cramps
    • Diarrhea
    • Vomiting
    • Anemia (discovered later)
  • Treatments:
    • Surgery: hemicolectomy (removal of half the colon)
    • Chemotherapy
Jessica T.
Jessica T.
Jessica T.
Jessica T.
Jessica T.
Jessica T.
Jessica T.

This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


Jessica T. feature profile
Thank you for sharing your story, Jessica!

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More Metastatic Colorectal Cancer Stories

 
Raquel A. feature profile

Raquel A., Colorectal Cancer, Stage 4



Symptoms: Frequent bowel movements, pin-thin stools, mild red blood in stool
Treatments: Chemotherapy (oxaliplatin, 5-fluorouracil, and irinotecan)
Steve S., Colorectal Cancer, Stage 4

Symptoms: Blood in stool, changes in bowel habits, feeling gassy/bloated

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Kelsey’s Grade 3 Brain Cancer Story

Kelsey’s Grade 3 Brain Cancer Story

Interviewed by: Taylor Scheib
Edited by: Chris Sanchez

Kelsey, from Wisconsin, is a young mother and wife, a former dancer and an art and communications major from Coe College in Iowa. She experienced a life-changing brain cancer diagnosis at the age of 30.

Before her diagnosis, Kelsey was active and passionate about weightlifting. Life took an unexpected turn in May 2023 when Kelsey began experiencing numbness in her left arm. It was initially dismissed as anxiety or a potassium deficiency. After several episodes, Kelsey suffered a seizure, prompting an emergency CT scan. This revealed a 4-centimeter brain tumor in her parietal lobe.

The news was shocking, particularly as Kelsey’s grandfather had died from glioblastoma, a type of brain cancer. She was admitted to the hospital immediately and underwent successful brain surgery, with 98% of the tumor removed. However, the emotional toll during her recovery was immense. Kelsey felt numb and disconnected as she awaited pathology results. They confirmed she had a grade 3 astrocytoma with an IDH1 mutation—a type of brain cancer with a 5-year survival expectancy.

Kelsey’s treatment plan began with 33 rounds of radiation, followed by chemotherapy with the drug Temodar (temozolomide). She described handling side effects like nausea and fatigue well, though she dealt with extreme tiredness and brain fog. Throughout her journey, Kelsey has had an immense support system, including her family, husband, and in-laws. Her positive mental attitude has also been a crucial part of her coping mechanism, reinforced by her optimistic upbringing.

A major turning point came when molecular testing revealed that Kelsey’s cancer had a specific mutation that slowed its growth. This extended her life expectancy from five years to potentially 12–15 years. Additionally, a new FDA-approved drug, targeted to her specific mutation, offered hope of turning her cancer into a manageable chronic illness rather than a terminal one.

Kelsey has been documenting her cancer journey on TikTok, which has been both a form of video journaling and a way to connect with others in similar situations. She credits her transparency and openness with helping her process emotions and maintain a strong connection with her husband. Kelsey also advises others on the importance of mindset, advocating for maintaining hope and a positive outlook, even amidst the challenges of cancer.

In closing, Kelsey shares an impactful story from a woman who told her there was “magic in cancer,” referring to the perspective shift it brings. Despite its difficulties, Kelsey now values the profound sense of living in the present, which she considers to be one of cancer’s unintended gifts.


  • Name:
    • Kelsey S.
  • Age at Diagnosis:
    • 30
  • Diagnosis:
    • Brain cancer (astrocytoma with an IDH1 mutation)
  • Grade:
    • Grade 3
  • Initial Symptoms:
    • Tingling and numbness in left arm and hand
    • Sensation progressed to her leg
    • Seizures
  • Treatment:
    • Surgery (craniotomy)
    • Radiation
    • Chemotherapy (Temodar [temozolomide])
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This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.


Thank you for sharing your story, Kelsey!

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Categories
Breast Cancer DIEP Hormone Therapies Invasive Ductal Carcinoma Mastectomy Patient Stories Surgery tamoxifen Treatments

Krista’s Stage 1A IDC Breast Cancer with ATM Mutation Story

Krista’s Stage 1A IDC Breast Cancer with ATM Mutation Story

Interviewed by: Taylor Scheib
Edited by: Katrina Villareal

Krista B. feature profile

Krista’s stage 1A breast cancer journey is deeply connected to her family’s history. Her mother was diagnosed with stage 3 breast cancer at 48 and underwent various treatments like chemotherapy, radiation, and hormone therapy. She tested positive for a mutation in the ATM gene, which raises the risk of breast cancer. This finding led Krista to get genetic testing, revealing she also carried the same mutation, giving her a 69% risk of developing breast cancer.

Krista began following a rigorous screening schedule, alternating between mammograms and breast MRIs every six months. Despite a normal mammogram, her MRI detected an abnormality. Though specialists initially dismissed it as non-cancerous, Krista felt uneasy and insisted on a biopsy. This confirmed her breast cancer diagnosis just two weeks before her scheduled preventative surgery.

She chose to undergo a double mastectomy with DIEP flap reconstruction, using tissue from her abdomen to reconstruct her breasts. The process involved an initial eight-hour surgery followed by a revision surgery. After the procedure, Krista was relieved to avoid chemotherapy due to her low Oncotype DX score. Instead, she began a five-year course of tamoxifen, experiencing minor side effects like sleep disturbances and fatigue.

Her treatment plan also included daily exercise, which helped manage the side effects. Krista’s nutrition strategy focused on a plant-heavy diet, aiming for 8 to 10 servings of fruits and vegetables daily with a balanced intake of high-quality, low-quantity meat.

Mentally, Krista dealt with stress by spending quiet time, running, and leaning on her husband’s support. She emphasizes the importance of making informed, personal treatment decisions and encourages others to consider genetic testing and explore all their options.

Krista’s motivation to share her story comes from a desire to empower others with the knowledge she has gained. She hopes to help others make informed decisions and potentially prevent cancer. She advocates for taking one’s time to navigate the overwhelming journey of cancer, stressing the importance of making decisions that bring peace of mind.


  • Name: Krista B.
  • Diagnosis:
    • Breast Cancer
    • Invasive ductal carcinoma (IDC)
    • HR+, HER2-
  • Staging:
    • Stage 1A
  • Mutations:
    • ATM
  • Symptoms:
    • None; abnormality detected in breast MRI
  • Treatments:
    • Surgery: double mastectomy with DIEP flap reconstruction
    • Selective estrogen receptor modulator (SERM): tamoxifen
Krista B.
Krista B.
Krista B.
Krista B.
Krista B.
Krista B.

This interview has been edited for clarity. This is not medical advice. Please consult with your healthcare provider for treatment decisions.

Expand to read the AI-generated YouTube Video Transcript

[00:01] Hi, I’m Krista, and I am a nurse and a patient advocate and a breast cancer survivor. My story really begins with my mom’s cancer diagnosis. She was diagnosed at age 48 with stage 3 breast cancer. At that time, she was only tested for two gene mutations linked to breast cancer, which were the BRCA1 and BRCA2 mutations. She was negative.

[00:36] Fast forward, she did every type of treatment—chemo, radiation, hormone therapy, everything. She put up a strong fight for about 12 years. Shortly before she passed away, she was unfortunately offered expanded genetic testing for other genes linked to breast cancer. She did test positive for a mutation in her ATM gene, which was a pathogenic mutation and higher risk than the average ATM gene.

[01:15] She shared that with all of her children because we then had a 50% chance of inheriting that from her, so we had the option to also test for that mutation. A few months after she passed away, I decided to move forward with my own genetic testing and found out I was also a carrier of the same mutation. So, I had a 69% risk of breast cancer, a 5 to 10% risk of pancreatic cancer, and also a 2 to 3% risk of ovarian cancer.

[01:56] Because I was at high risk for these cancers, I started to follow the recommendations for more thorough and frequent screenings, which meant on top of mammograms, I was also doing breast MRI, alternating every six months. I started that process and also began considering different surgical options for preventative surgeries.

[02:20] During this time, my mammogram was normal, but my breast MRI showed an abnormality. We did some follow-up testing—ultrasound and diagnostic mammogram. At that time, they said that it did not look like cancer. I was nervous about that with my risk, so I followed up and had three specialists tell me that it was not cancer. They advised me to take my time, make my decisions, and move forward with the surgical plan that I had in place.

[03:01] So, I did that, but because it started to have a possibility of affecting the process of my surgery, I requested a biopsy. It came back two weeks before my preventative surgery and showed a diagnosis of breast cancer. It was a little bit of a shock. I went into my biopsy thinking, “Oh, I’m good. This is just a routine check to make sure it’s okay to move forward with my surgery in the order we had planned.” So, I was really surprised at the diagnosis, but I was grateful to have that plan in place already and that I wasn’t scrambling to make decisions.

[03:42] I had my first surgery, a double mastectomy with flap reconstruction, on January 30th of this year, followed by a second surgery in April. Luckily, I really believe that I owe this all to my mom and advances in genetics. I’m grateful every day for the fact that she did genetic testing because, to this day, at this point in time, I don’t think I would still have a diagnosis based on my screening schedule. I’m very grateful I was able to avoid chemotherapy and a lot of the other things that I watched her go through. I’m grateful for that every day. It saved my life.

[04:36] If you’re interested in doing genetic testing, the first step would be to talk to your medical provider. This can sometimes be your primary care provider, an OB-GYN, or any specialist in the field of cancer that you may or may not have a family history with. You’re going to want to request a hereditary cancer panel, which screens for somewhere around 79 different genes that are now linked to cancer. The first step would be to request that from your provider, and most of the time, they’ll recommend that you see a genetic counselor, which is a great idea in my opinion. They’re amazing and have the most up-to-date information on the different genes and the risks associated with each. They do a deep dive into your family history and then make recommendations for different testing.

[05:31] From that point, it has really changed my life. I have three little girls, and I just think how different it’s going to be for them and how much they can avoid. But when it comes down to choices for reconstruction, there are typically three main choices that are offered to patients or should be offered to patients. One of them is esthetic flat closure, the second one is breast implants, and the third is flat base reconstruction. Flat base reconstruction is one that’s a little less known. It was my choice, and rather than having an implant, they take tissue from a part of your body and basically transplant it with all the vessels and use that in place of the implant for your reconstruction.

[06:26] It’s pretty amazing the way that they do it, and there are different places that they can take the tissue from. One of the most common is the one that I chose called deep flap reconstruction. They take tissue from your abdomen and use that for the reconstruction. It’s a little bit of a longer surgery upfront, and it was a two-phase surgery for me. That’s very common for patients who choose this reconstruction option. It is around an eight-hour surgery usually, so a little longer.

[07:06] My advice to anyone who is facing these choices is that they’re very hard choices, right? They’re life-changing decisions that you have to make. Sometimes you aren’t given a lot of time, but the thing that I hope everyone understands is that there are different options out there. Regardless of what anyone else thinks—whether it’s your provider, your family members, or someone who has been through it—ultimately, it’s your decision, and it’s what you have to live with. It should be the choice that makes you feel the most at peace moving forward.

[07:50] I have a lot of patients who I talk to who get very frustrated because they were not offered all the options. That’s one of the reasons I like to share my story because even for me as a nurse, in the beginning, I did not have a clue that this was an option. My biggest advice would be to take your time. Even with a cancer diagnosis, you have time to make an informed decision. Consider all of your options and choose the one that makes you feel the most at peace moving forward.

[08:25] The recommendation for me, treatment-wise moving forward, was that I had a very low risk of recurrence. My Oncotype score was one out of 100, so no chemo was recommended. But I was hormone receptor-positive, HER2-negative. The recommendation for me was tamoxifen, and that would be over a five-year period. I am at this point only three months in, but very happy to say that my side effects have been very minimal so far. I know that can change, but so far, not bad—just a little bit of sleep disturbance and fatigue, but nothing that is not manageable.

[09:10] One of the things that my oncologist, who I love, recommended was making sure you exercise every day. That was going to make the biggest difference in my side effects on that medication, so he said, “Don’t stop.” So I increased it, and I’m going to keep doing that and hope for the best moving forward. I know that side effects can be really hard sometimes, and it’s always a hard choice. It was something that I never wanted to do, which is why I chose the preventative surgery. But here we are. Just try to make the best of it and take it day by day.

[09:52] I think I tend to carry stress well somehow, but after everything was finished, I felt this huge weight lifted off my shoulders. I remember saying to my husband, “I didn’t even realize how much I was carrying until I was done with the surgery part.” It’s a huge stressor, but I did try to do a few things during the last year as I was going through all of this that helped a lot.

[10:31] For me, I’m not necessarily a meditation person, but that is very helpful for a lot of people. For me, I have a swing on my back porch, and that’s kind of my space where I spend a lot of time. I guess it could be similar to meditation, but that was very helpful to me. I would just go out and have quiet—turn off the phone, have time to just kind of process things, and swing on my swing. Grounding is also really good.

[11:10] Having somebody to talk to is important. I’m very lucky. My husband is very supportive, and he listened to me. I’m an out-loud processor, so he listened as I made all these hard decisions and changed my mind 500 times. Just the back-and-forth, talking about all the things I’m learning about food—you have to have a person who is willing to listen and not necessarily give advice. That was very helpful.

[11:42] I’m also back to the exercise, but running is a huge stress relief for me. That was one of the things I also tried to focus on—making sure I was getting in running and doing some deep breathing.

[11:55] One of the biggest things that feels overwhelming to a lot of people who have just been diagnosed with cancer or are at high risk is, “What do I eat?” That was one of the first things that I said to my doctor, “What should I eat? Is there a specific diet that I should be on?” I talk to women every day who are asking the same questions. It is one of the most impactful things that we can do, but also one of the most overwhelming, especially if you’re trying to navigate all of these things being thrown at you with a new diagnosis and high-risk genes.

[12:34] I am in a Master’s of Medical Nutrition program right now, which I love. I get to focus a lot on the research with cancer prevention and all of the new studies that are coming out. I love it. I’m very passionate about it, but I will also say that there is no perfect plan. There’s no perfect diet that we can all do to prevent cancer, right? There’s no 100% guarantee with anything when it comes to cancer. It does what it wants.

[13:10] Some of the best recommendations I can give are to eat a lot of plants. One of the best things you can do is eat lots of fruits and vegetables. I think the recommendation is 5 or 6 servings. I try to go for 8 to 10 every day, which sounds like a lot, but once you start incorporating them and finding different ways to do it, there are so many things—fruits, vegetables, nuts, legumes, whole grains—that have so many benefits for cancer and trying to prevent cancer and reduce your risk as much as possible.

[13:47] The reason that I like to share this kind of information is because, for me personally, moving from this place of overwhelm and trying to navigate everything into a space where I felt more empowered was huge for me. I remember thinking, “I’m a nurse, and how much of this did I not know from the start, and how much have I had to learn?” I felt very fortunate to have access to a lot of courses and certifications that not everyone has.

[14:26] I feel like I owe my life to my mom and genetic testing, and I would be in a very different place without that. After I went through all of this, I felt this huge responsibility to share with others because I know there are so many people who could benefit from this information. Even if it makes a difference for one person or helps one person feel more empowered in their decision-making and informed about the options that are available, even genetic testing—if it helps one person or prevents one cancer diagnosis—it’s totally worth it.

[15:12] No matter what phase you’re going through, it’s scary, and it’s overwhelming. Whether you have been diagnosed with cancer already or are a provider who is just starting out on your journey, just know that it’s not always going to feel like it feels right now.


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More Breast Cancer Stories

Amelia

Amelia L., IDC, Stage 1, ER/PR+, HER2-



Symptom: Lump found during self breast exam

Treatments: TC chemotherapy; lumpectomy, double mastectomy, reconstruction; Tamoxifen

Rachel Y., IDC, Stage 1B



Symptoms: None; caught by delayed mammogram

Treatments: Double mastectomy, neoadjuvant chemotherapy, hormone therapy Tamoxifen
Rach smiling against fall leaves

Rach D., IDC, Stage 2, Triple Positive



Symptom: Lump in right breast

Treatments: Neoadjuvant chemotherapy, double mastectomy, targeted therapy, hormone therapy
Caitlin

Caitlin J., IDC, Stage 2B, ER/PR+



Symptom: Lump found on breast

Treatments: Lumpectomy, AC/T chemotherapy, radiation, hormone therapy (Lupron & Anastrozole)

Joy R., IDC, Stage 2, Triple Negative



Symptom: Lump in breast

Treatments: Chemotherapy, double mastectomy, hysterectomy

Categories
FAQ Lung Cancer

Biomarker Testing

Biomarker Testing

You may have heard your care team mention the possibility of biomarker testing when trying to develop a plan of action for diagnosis or a potential diagnosis of cancer. While biomarker testing has been around since the 1950s, it’s not a term you come across often if you aren’t in the medical field. 

Biomarker testing is an effective tool for doctors to help identify targeted therapies for driver mutations or issues with the immune system for cancer patients. 

In this article, we will help you better understand what biomarker testing is and answer any questions that you may have about biomarker testing. This way you can make an informed decision about what is best for you and your body. 

What is Biomarker Testing?

Biomarker testing, also known as molecular or genomic testing, is the use of a laboratory test to measure biomarkers found in your bodily fluids or tissue. A biomarker is a biological molecule found in any bodily fluid that may indicate a sign of abnormality as in a disease or a condition. 

Doctors are able to use the tissue of a tumor to test for abnormalities in its DNA and levels of specific proteins in the tumor in order to identify what is causing the tumor to grow. In turn, they can then apply targeted therapy that will help remove the cancerous cells without damaging healthy cells. 

Why is Biomarker Testing Useful for Cancer Patients?

Biomarker testing is a great tool for cancer patients because it allows your care team to diagnose the type of cancer. This in turn can help your doctor determine the best treatment plan.

According to the National Cancer Institute (NCI), biomarker testing can also be used to identify genes the may lead to cancer or see how your treatment plan is progressing. 

“It’s helped us on three different occasions not only with diagnosis, but on each time that he had progression of his cancer, the liquid biopsy was able to say, here’s the mutation, here’s the new mutation, and here’s the direction the clear plot path that you need to take for survival.”

Read more about Rhonda’s success with Biomarkers

When Should I Consider Biomarker Testing?

The National Institutes of Health recommends biomarker testing for all patients with non-small cell lung cancer. Biomarker testing can also be useful for several other types of cancer including melanoma and breast cancer.

Three key times you should consider asking your doctor about biomarker testing are:

  • When your doctor suspects cancer and you are getting a biopsy done.
  • If you have been diagnosed with cancer but did not get biomarker testing done.
  • If lung cancer reoccurs after treatment

Essentially, if you are diagnosed with lung cancer you should discuss the potential for biomarker testing with your doctor.

“I wish I had actually asked for the full biomarker testing to see what their report was and ask questions about it. Cancer runs in my family, but I had done genetic testing. I didn’t understand this was different testing.”

Read More about Terri’s lung cancer story

Which Types of Biomarker Testing Should I Be Asking For?

There are two types of biomarker testing that should be done if you’ve been diagnosed with or your doctor suspects lung cancer:

  • Driver Mutations – an error in a gene’s DNA
  • Expression of PD-L1 – an immunotherapy biomarker

Let’s dive further into the two types of biomarker testing to understand what they indicate and how they impact your treatment plan.

Driver Mutations

In order to understand driver mutations, it’s important to understand the basics of how genes and DNA work. 

DNA makes up genes. When everything is working normally each gene has its proper DNA code which then results in the production of proteins. 

mutation occurs when a gene has an error in its DNA. Mutations are normal and happen often. A single mutation likely won’t cause cancer; however, the accumulation of multiple mutations over time is what typically results in cancer. 

Mutations are often sorted into two general categories:

  • Somatic (acquired) – The mutation is limited to just the tumor and is not passed to offspring.
  • Germline (inherited) – The mutation is present in all cells of the body and can be passed to offspring. 

There are several different types of driver mutations that can result in cancer. Some of the most common ones include:

  • Activating Mutation – The protein is always active.
  • Fusion – The fusion of one gene with another.
  • Amplification – More copies of a gene than normal.
  • Deletion – Part of or the entire gene is missing. 

Research has so far found 20 different driver mutations commonly found in non-small cell lung cancer treatment and small cell lung cancer treatment. Much more research is needed to continue identifying the potential mutations and develop targeted therapies. 

Expression of Programmed Death Ligand 1 (PD-L1)

The testing of your PD-L1 levels is what helps identify if you need immunotherapy. According to the National Library of Medicine, a PD-L1 test helps measure the amount of PD-L1 on cancer cells. 

This is important because PD-L1 proteins are what prevent your T-cells, otherwise known as immune cells, from attacking the cancer cells. Essentially, the abnormal cancer cells are hiding behind the PD-L1 proteins to stop your body from doing its job.

To learn more about immunotherapy visit our FAQ page.

“If you catch a patient stage one, you can have a greater than 90% chance of curing that patient from lung cancer. So that’s what it’s all about.”

– Dr. Michael Gieske

Read more about Dr. Gieske’s fight for early lung cancer screening.

Are There Different Types of Biomarker Testing?

Yes, there are several different biomarker tests that can be done. The type of biomarkers and test that is performed depends on the type of cancer that you may have. 

Some common tests include:

  • Single Biomarker Test – Only looking for one single biomarker.
  • Multigene Test – Looking at a panel of several different biomarkers.
  • Whole-Exome Sequencing – Looking at all of the genes in your cancer.
  • Whole-Genome Sequencing – Looking at all of the DNA in your cancer.
  • Tumor Mutational Burden Testing – Looking at genetic changes in your cancer to determine if you need immunotherapy.
  • Liquid Biopsies – Assessing blood or other bodily fluids for biomarkers.

The type of biomarker that is run depends on your cancer type and what your doctor is trying to learn from the test. 

How is Biomarker Testing Done?

An important part of deciding if biomarker testing is right for you may be how the actual test is performed. The test can be done in one of three ways depending on the type of biomarkers that are being tested for:

  • If you are having surgery, the surgeon can take a sample of your tumor during the operation.
  • They may need to take a biopsy of your tumor if you aren’t having surgery.
  • Some biomarker tests can be completed using just a blood draw.

In some instances, you may need to get an additional biopsy done if the cancer is reoccurring, or they didn’t get enough tissue to complete the test.

What Will My Biomarker Test Reveal?

The results of your biomarker test may help identify the best course of treatment by indicating what type of mutation is causing your cancer or if you are a candidate for immunotherapy. If there is an FDA-approved drug to treat your results you may be able to avoid chemotherapy or even potentially surgery.

“Research is going to biomarker testing that’s going towards targeted therapy. That’s the future of cancer care. That’s not just about lung cancer. So as we make it more people more aware of biomarker testing that goes across all cancers, that’s an education that is critical research.”

Read more about Chris Draft’s experience with lung cancer and his efforts to build awareness.

Biomarker Testing Patient Stories

Learn about how biomarkers impact a cancer diagnosis and treatment from real-life patients.

Lung Cancer

Chris Draft



Background: Chris' wife Keasha passed away from stage 4 lung cancer one month after they married. He's been a passionate lung cancer advocate ever since.
Focus: Leading with love, making connections to grow lung cancer community, NFL liaison

Rhonda & Jeff Meckstroth



Background: Jeff was diagnosed with stage 4 lung cancer and given months to live, but his wife, Rhonda, fought for a specialist that led to biomarker testing and better treatment options
Focus: Education of biomarker testing for driver mutations, patient and caregiver self-advocacy

Terri C., Non-Small Cell Lung Cancer, KRAS+, Stage 3A



Symptoms: Respiratory problems
Treatment: Chemotherapy (cisplatin & pemetrexed), surgery (lobectomy), microwave ablation, SBRT radiation

Stephen H., Non-Small Cell, ALK+, Stage 4 (Metastatic)



Cancer details: ALK+ occurs in 1 out of 25 non-small cell lung cancer patients
1st Symptoms: Shortness of breath, jabbing pain while talking, wheezing at night
Treatment: Targeted therapy (alectinib), stereotactic body radiation therapy (SBRT)

Shyreece P., Non-Small Cell, ALK+, Stage 4



Cancer details: ALK+ occurs in 1 out of 25 non-small cell lung cancer patients
1st Symptoms: Heaviness in arms, wheezing, fatigue
Treatment: IV chemo (carboplatin/pemetrexed/bevacizumab), targeted therapy (crizotinib, alectinib)
Breast Cancer
Francina B.


Francina B., Breast Cancer, Stage 2B



Initial Symptoms: None
Treatment: Surgery (lumpectomy, removal of cancerous sentinel nodes); Chemotherapy (doxorubicin, paclitaxel); Radiation

Abigail J., Metastatic Breast Cancer, HER2-low, PIK3CA+



Symptoms: Back and leg pain, lump in breast



Treatments: Surgery, chemotherapy, radiation, CDK4/6 inhibitors
Leukemia
Mary Clare

Mary Clare B., Acute Myeloid Leukemia (AML)



Cancer details: Relapsed but in remission after 2nd transplant
1st symptoms: Extreme fatigue, upset stomach, bad & persistent headaches
Treatment: Chemotherapy, radiation, 2 bone marrow transplants

Medical Experts on Biomarkers

Dr. Saad Usmani

Saad Z. Usmani, MD



Dr. Saad Usmani, Chief of Myeloma Service at Memorial Sloan Kettering, talks about CAR T-cell therapy, bispecific antibodies, novel therapies and combination therapies.

Deciding Best Myeloma Treatment for a Patient Using a New Strategy



Focus: Possible way of determining optimal treatment for patients without them having to go through treatment first, via using new approaches of studying tumors outside the body, gene expression, and computational data.
Featuring: Praneeth Sudalagunta, Ph.D, Moffitt Cancer Center

Tim Fenske, MD, MS



Role: Hematologist-Oncologist
Focus: chronic lymphocytic leukemia (CLL) & leukemia and lymphoma | CAR T, targeted therapy
Provider: Medical College of Wisconsin

Irene Ghobrial, MD



Role: Clinical investigator and professor of hematological oncology
Focus: Multiple myeloma, Waldenström’s Macroglobulinemia, early screening, clinical trials
Provider:Dana-Farber Cancer Institute (Boston)