"Precision medicine gives us hope for the future"

A PALB2 mutation puts Krista Breckman at a higher risk of developing cancer. But it also provides an avenue for early detection and a possible target for new therapies.

My name is Krista Breckman. I’m a 55-year-old mother of two young adults, wife of almost 30 years to Greg, from Winnipeg, Manitoba. Five years ago, on July 3, at a regular checkup, my doctor found a lump in my right breast. Within weeks I went through the diagnosis process, and on August 9 – coincidentally, on the anniversary of the day that we received the devastating news of my father’s terminal, inoperable, pancreatic cancer – I was told that I had breast cancer and my life completely changed. 

I eventually learned that I had a 2 cm invasive ductal carcinoma, stage 2a triple negative breast cancer.  It was caught early but was aggressive like all TNBC is. I soon found myself on what I called the ‘cancer treatment train’, which included the full meal deal: a lumpectomy (later double mastectomy – more about that below), chemotherapy and radiation therapy. Genomic testing was not offered because the only treatment for TNBC is chemo. Full stop. No targeted therapies like herceptin, no immunotherapy.  Just the devastating, nearly indiscriminate cell killers – the ‘big guns’ of chemotherapy.

With my family’s support, I endured several grueling months of treatment. I lost all my hair, my energy and almost my nails but did my best to keep my sense of humour and optimism. I always say that I just put my head down and powered through. It was scary, challenging, sometimes horrible, but I got through it.

But my story doesn’t end there. On August 9 a year after my initial diagnosis, I was diagnosed not with a BRCA mutation but its ugly little sister, PALB2. PALB2 carriers have a higher risk of breast, ovarian and pancreatic cancer.  We assume my father was the carrier, and that was the cause of his pancreatic cancer.  My sister and 25-year-old niece also sadly tested positive. My sister began intensive screening and at her first breast MRI found she also had breast cancer. Eventually, all three of us had risk reducing surgeries.  We are all being screened for pancreatic cancer as well.

While no targeted treatments for our cancers were available to my dad or to my sister and I at the time, precision medicine gives us hope for the future.  Because we know we carry the PALB2 gene mutation, we can be screened regularly for pancreatic cancer. And if one of us, God forbid, gets cancer again, we have hope for survival, which my father didn’t have. This is because, according to data from a 2022 study that tracked patients with pancreatic cancer disposition mutations like mine, five-year survival for patients whose pancreatic cancer was detected with screening was 73.3%, with a median overall survival of 9.8 years. This finding is in contrast with pancreatic cancer patients outside the surveillance study, which had an average survival of 1.5 years due to late-stage presentation. In that case, early detection through precision medicine is already saving lives.

In addition to early detection, there are a growing number of promising immunotherapies and other therapies targeted at cancers with PALB2 mutations on the horizon. While I hope that my family and I never have to access them, these new precision medicine approaches give me hope that if any of us ever find ourselves riding the ‘cancer treatment train’, our rides will be easier and shorter than my first one, and that someday we can find a cure for patients with these mutations like ours.

"In addition to early detection, there are a growing number of promising immunotherapies and other therapies targeted at cancers with PALB2 mutations on the horizon."