Why Genomic Testing Made A Difference For One Woman’s Breast Cancer

The Race To Stop The Spread

In 2009, Randee was diagnosed with stage 3B breast cancer. This is when a breast cancer tumor of any size has spread to the breast skin or chest wall and to nine or fewer lymph nodes in the area. Today, a host of various genomic markers can help determine personalized treatment options. But at the time of Randee’s initial diagnosis, there were limited treatment options available tailored to specific genomic markers.

A few weeks after her initial diagnosis, she had a mastectomy, and then was treated with chemotherapy and radiation. “By the beginning of 2010, I was finished with radiation and chemo,” Randee says. She was maintained on hormonal therapy and considered cancer-free.

The Impact of PIK3CA

Almost ten years later in 2019, Randee’s doctors found a malignant effusion (abnormal collection of fluid) on her right side; testing of its fluid confirmed that her breast cancer had spread, changing her diagnosis to metastatic breast cancer. “I wound up becoming short of breath, and I had fluid around my right lung. And that began the new journey,” she recalls. Her doctor ordered some additional genomic testing (also called biomarker testing) to better understand her disease.

In the years since she was initially diagnosed, significant advances in precision medicine have led to the development of new treatments tailored to specific genomic markers.

Her cancer tested positive for a mutation in the PIK3CA (phosphatidylinositol-4,5- bisphosphate 3-kinase catalytic subunit alpha) gene, which provides instructions for cells to make part of an enzyme called PI3K (phosphoinositide 3-kinase) that tells cells to grow and multiply. Out-of-control PI3K can drive the growth of tumors, and PIK3CA mutations are found in approximately 40 percent of HR+ breast cancers, the most common subtype.

Because of this genomic testing, Randee and her doctor were able to make informed decisions about which treatment option would work best for her cancer. Today, as she continues her treatment, Randee spends her days playing bridge; visiting with friends and family; and going to local museums and restaurants. When asked how she has been able to deal with all the adversity that breast cancer has subjected her to, she says, “I’m like a card game: I play the cards I was dealt, and that’s all I have to go by.”

The Role of Genomic Testing in Making Informed Treatment Decisions

Randee’s journey is just one example of how far breast cancer care has come, particularly when it comes to tailoring treatment through genomic insights. Today, more oncologists are turning to biomarker and genomic testing to personalize care plans for their patients—something Dr. Zonera Ashraf Ali, MD, a board-certified hematologist and medical oncologist specializing in the diagnosis and treatment of blood disorders and all types of cancer, sees the impact of every day in her practice.

Genomic testing plays an important role for Dr. Ali in treatment decision making, providing information to enable her patients who test positive for certain biomarkers to receive targeted treatment for their cancer. Acknowledging how the treatment landscape has advanced, Dr. Ali said, “Every day there is something new for breast cancer. With more targeted therapies becoming available, we are able to treat each cancer individually—and I think that is the key.”

One treatment Dr. Ali uses for some of her eligible patients is Genentech’s ITOVEBI™ (inavolisib) in combination with palbociclib and fulvestrant, a regimen the FDA approved to treat people with PIK3CA-mutated, hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, endocrine-resistant, locally advanced or metastatic breast cancer, as detected by an FDA-approved test, following recurrence on or after completing adjuvant endocrine therapy.

Itovebi and other targeted treatments allow Dr. Ali more options. Dr. Ali states, “Each cancer is such an individual cancer that you just hope your next person is going to be the one who’s going to live for many, many years.”

For others facing a breast cancer diagnosis, understanding all available options is key. If you or someone you love has been diagnosed with breast cancer, talk to your doctor about comprehensive biomarker testing to help identify the best treatment approach.

What is Itovebi?

Itovebi (inavolisib) is a prescription medicine used in combination with the medicines palbociclib and fulvestrant to treat adults who have hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative breast cancer that has an abnormal phosphatidylinositol-3-kinase catalytic subunit alpha (PIK3CA) gene, and has spread to nearby tissue or lymph nodes (locally advanced), or to other parts of the body (metastatic), and has come back after hormone (endocrine) therapy.

Your healthcare provider will test your cancer for abnormal PIK3CA genes to make sure that Itovebi is right for you.

It is not known if Itovebi is safe and effective in children.

Important Safety Information
What are the possible side effects of Itovebi?
Itovebi may cause serious side effects, including:

● High blood sugar levels (hyperglycemia). High blood sugar is common with Itovebi and may be severe. Your healthcare provider will monitor your blood sugar levels before you start and during treatment with Itovebi. Your blood sugar levels may be monitored more often if you have a history of Type 2 diabetes. Your healthcare provider may also ask you to self-monitor and report your blood sugar levels at home. This will be required more frequently in the first 4 weeks of treatment. If you are not sure how to test your blood sugar levels, talk to your healthcare provider. You should stay well-hydrated during treatment with Itovebi. Tell your healthcare provider right away if you develop symptoms of high blood sugar, including:

• difficulty breathing
• nausea and vomiting (lasting more than 2 hours)
• stomach pain
• excessive thirst
• dry mouth
• more frequent urination than usual or a higher amount of urine than normal
• blurred vision
• unusually increased appetite
• weight loss
• fruity-smelling breath
• flushed face and dry skin
• feeling unusually sleepy or tired
• confusion

● Mouth sores (stomatitis). Mouth sores are common with Itovebi and may be severe. Tell your healthcare provider if you develop any of the following in your mouth:

• pain
• swelling
• redness
• ulcers
  

● Diarrhea. Diarrhea is common with Itovebi and may be severe. Severe diarrhea can lead to the loss of too much body water (dehydration) and kidney injury. Tell your healthcare provider right away if you develop diarrhea, stomach-area (abdominal pain), or see mucus or blood in your stool during treatment with Itovebi. Your healthcare provider may tell you to drink more fluids or take medicines to treat your diarrhea.

Your healthcare provider may tell you to decrease your dose, temporarily stop your treatment, or completely stop your treatment with Itovebi if you develop certain serious side effects.

The most common side effects and abnormal blood test results of Itovebi when used in combination with palbociclib and fulvestrant include:

• decreased white blood cell counts, red blood cell counts, and platelet counts
• decreased blood levels of calcium, potassium, sodium, and magnesium
• increased creatinine blood levels
• tiredness
• increased blood levels of the liver enzyme alanine transaminase (ALT)
• nausea
• rash
• loss of appetite
• COVID-19 infection
• headache

Itovebi may affect fertility in males and in females who are able to become pregnant. Talk to your healthcare provider if this is a concern for you.

These are not all the possible side effects of Itovebi. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088 or You may also report side effects to Genentech at (877) 436-3683.

Before you take Itovebi, tell your healthcare provider about all of your medical conditions, including if you:

• You should use effective birth control (contraception) during treatment with Itovebi and for 1 week after your last dose.
• are breastfeeding or plan to breastfeed. It is not known if Itovebi passes into your breastmilk. Do not breastfeed during treatment with Itovebi and for 1 week after your last dose. Talk to your healthcare provider about the best way to feed your baby during treatment with Itovebi.

Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

Please see the full Prescribing Information, including Patient Information, for additional Important Safety Information.

About Genentech in Breast Cancer

Genentech has been advancing breast cancer research for more than 30 years with the goal of helping as many people with the disease as possible. Our medicines, along with companion diagnostic tests, have contributed to bringing breakthrough outcomes in HER2-positive breast cancer. As our understanding of breast cancer biology rapidly improves, we are working to identify new biomarkers and approaches to treatment for other subtypes of the disease, including estrogen receptor-positive breast cancer, which is a form of hormone receptor-positive breast cancer, the most prevalent type of all breast cancers.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

All trademarks used or mentioned in this release are protected by law.

Carey Rossi is the Senior News Editor for Prevention and Prevention.com. You can follow her @CareyRossi.