Cancer diagnosis leads to significant genetic discovery

An early-onset breast cancer diagnosis led Janet Shimabukuro to get genetic testing for the BRCA gene mutation. Upon learning that she tested positive for BRCA2, she encouraged members of her immediate and extended family, from Olympia to Switzerland, to get the same test. Genetic testing determines if a patient has changes, known as mutations, in their DNA that increases their risk of certain cancers. The BRCA mutation greatly increases the risk for breast and ovarian cancer in women and prostate and breast cancer in men.

“From the day I was diagnosed with cancer, I felt that I was going through this experience to help others,” Janet said. “I felt that God chose me to walk this journey and share this important information that would help my siblings, our children, and other family members. I’m thrilled that I get to share my story with others that may benefit too.”

Genetic testing empowers family to take control of their health. 

Janet is a proud member of the well-known Schilter family, owners of local family farms for more than 80 years. She was diagnosed in November 2019 with invasive ductal carcinoma at 46 years old. After discovering an odd, hard lump in her right breast, Janet contacted her doctor to schedule a diagnostic breast ultrasound. Andrew Taylor, M.D., radiologist at South Sound Radiology, a joint venture with Providence St. Peter Hospital, informed her that the results called for an immediate needle-guided biopsy. Her biopsy showed Stage 1 breast cancer with a two-centimeter nodule.

“Since the very beginning, Providence was right there with me and I’m so grateful for everyone who is a part of the oncology team,” Janet said.

Karry Trout, Providence Regional Cancer System oncology patient navigator, was there to support Janet when she received her cancer diagnosis. Trout helped her understand her pathology report and initiated genetic testing. “Because she was diagnosed with breast cancer at a young age and with a family history of cancers, we felt she was a good candidate to receive genetic testing that would empower her and her family,” Trout said. 

Janet received guidance and support through the Genetic Support Foundation (GSF) to be tested at Providence Regional Cancer System in Lacey. Janet’s sister, Eileen Hugdahl, accompanied her to start the genetic testing process. “Before my genetic counseling appointment, I had no idea that prostate cancer could be linked to BRCA.”

Janet’s blood test for the BRCA2 gene mutation came back positive and her sister knew she was also at high-risk of sharing the same mutation. Eileen’s test also came back positive, which led her to discuss with her provider having a breast MRI to determine her baseline.

Although she had annual mammograms with no significant discoveries, Eileen’s MRI was able to spot a small nodule that otherwise may have gone unnoticed for years. She believes the genetic testing saved her life.

“If I didn’t have the genetic testing done that provided me with the information that I was a BRCA2 carrier, my doctor wouldn’t have suggested I have an MRI and found the small spot in my left breast that proved to be cancer,” said Eileen. “I wonder how long it would have taken my annual mammogram to catch it. It could have resulted in a totally different outcome.”

“Janet was such an important advocate for her family and it’s the best example of how important information can cascade down and help others,” Stoll said. “This genetic test result is like a gift of information for her family with hopes that they can take steps towards cancer prevention and early detection.” 

Due to the increased chance of cancer recurrence with the BRCA2 mutation, Janet and Eileen opted for bilateral mastectomies with reconstruction. “It was the right decision for us, our future, and our family,” Janet said. The sisters coincidentally had their surgeries on the same day, just hours apart. Due to visitor restrictions for COVID-19, the sisters weren’t allowed to have any family visit in the hospital, however caregivers at St. Peter Hospital arranged for the two sisters to recover together.

Janet’s final infusion for her cancer treatment is in October, almost one year after she received her cancer diagnosis and began the genetic testing process with her family. “This knowledge has given my family the power to improve our lives, our children’s lives and future generations,” Janet said. 

Should you have genetic testing? 

Fen Jiang, M.D., oncologist at Providence Regional Cancer System, said evidence of gene mutations can help detect cancer sooner, which is the most important factor in fighting cancer. She says for some patients preventative surgeries are good decisions, but others forgo surgeries and increase their vigilance and regular screenings. Dr. Jiang recommends every member of a family with a history of ovarian cancer, male breast cancer or cancer diagnoses at an early age should undergo genetic testing. “The first step is talking with your primary care provider or oncologist to discuss if genetic testing is right for you,” Dr. Jiang said.

For more information about the Providence Regional Cancer System visit provcancer.org

Don’t delay your annual mammogram 

With the COVID-19 pandemic, many things in your life have been paused or canceled. Your annual mammogram shouldn’t be one of them. A screening mammogram is the best way to detect breast cancer early.

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