Personalized hospital breast cancer program expands

When Julia Beeden discovered she had breast cancer, it was shocking and unexpected.

But the 41-year-old from Cambridge has been enrolled in a research program that will analyze her DNA like a barcode, meaning her treatment can be tailored to her and will help her in the future. It gave her “control” to make the best decisions.

Over the past few years, it has become clear that there are many different types of breast cancer, each of which responds differently, so no treatment is “one size fits all.”

The Personalized Breast Cancer Program is running in five sites across the UK, the latest being Norfolk University and Norwich University Hospitals.

Beeden is one of more than 1,500 women diagnosed with breast cancer who have undergone DNA testing.

In June 2023, she discovered a pea-sized lump in her armpit. She could not feel anything in her breast, but the tissue in it was hard and dense, which turned out to be a tumor that had already spread.

Mr Beeden joined the program at Addenbrookes Hospital in Cambridgeshire.

she received Whole genome sequencing (WGS) It analyzes an individual's complete genetic code, or DNA.

The results revealed that she had a genetic mutation in the BRCA2 gene (which is present in everyone), which determined the type of breast cancer she had.

According to several research papers, scientists believe that: 11 types of breast cancerHowever, as discovery is ongoing, there is some disagreement about this number.

After undergoing chemotherapy and radiation therapy, Beeden was given medication specific to her type of cancer and is responding well.

“One of them specifically targets the fact that I have a BRCA gene mutation, which is a relatively recent cancer progression, but I don't know that I have that mutation. “As far as I'm concerned, I'm not eligible to receive that drug,” she explained.

“It’s really beneficial for me because there are no terrible side effects. [chemotherapy] I don't think the drugs I'm taking now existed five years ago.

“The more specialized the drug is for you, the more confident you will be that your doctor has chosen the drug appropriately.

“If I hadn't had those results, I would have been on completely different drugs, and those drugs may not be as effective at reducing cancer recurrence. It's about minimizing the risk. I can get on with my life.”

The BRCA gene is a gene that helps the body fight cancer, but mutations reduce its function, so people with the BRCA gene are unable to fight cancer in the same way.

Research shows that BRCA2 mutations increase the risk of developing breast cancer from 12.5% ​​to 69%.the risk of ovarian cancer increases from 2% to 17%, and the risk of prostate cancer increases from 12.5% ​​to 41%.

Knowing she had the BRCA 2 gene mutation meant that by the time Ms. Beeden needed surgery, both she and her surgeon had all the information they needed to discuss the best options. I meant it.

She chose to have preventive surgery on her other breast.

“Because of that genetic knowledge, they were able to advise me.

“Angelia Jolie doesn't have cancer, but she made the choice to have her ovaries removed, so she won't fight ovarian cancer like her mother did. That choice is yours to make.”

“Knowledge is power, isn't it? To decide your life.”

Beeden said being able to make quick and informed decisions about treatment helped her get back to living her life.

“This is definitely the new normal, but I'm as close to it as I can get,” she said.

“When the cancer starts to progress, you lose control of everything. I knew they would take my hair and everything would change. Since we can't play with each other and I can't swim, I literally have to take back control in any way I can.

“I think I had some input in every element…It gave me control to make those decisions.

“I hated looking at my choices and I hated making decisions, but it was my decision and it really mattered.”

Around that time every year In the east of England, 5,700 women and a small number of men are diagnosed with breast cancer, and around 1,100 women in the region die from the disease.

Professor Jean Abraham, director of the Precision Breast Cancer Institute in Cambridge, which is funded by Cancer Research UK, said that 25 to 30 years ago breast cancer was a single disease, but now breast cancer is “very mixed”. He said it was clear that it was something that various cancers.

“different [breast cancer] Subtypes have different natural histories, some returning sooner and others later. Therefore, truly understanding the genetics behind these cancers will help us understand how they differ from each other and how important it is to treat each differently. . ”

The program currently runs at five sites in Addenbrookes Hospital, Cambridge, Oxford, Colchester, Ipswich and now Norwich, where it hopes to help hundreds more women and some men. are.

“I think it will save the NHS money because we are not using treatments that are ineffective and cause toxicity. “Overall we are doing a good thing in terms of beating cancer,” Professor Abraham said.

Dr Claire Hannon, head of program at Norfolk and Norwich University Hospital, said: 'The DNA is analyzed in the same way as a normal biopsy and blood test, meaning there are no more tests or appointments than usual and there are no further tests or appointments to start treatment. There will be no delay.”

Later, Beeden's father and mother were also tested, and it was determined that the BRCA2 gene mutation came from the male side of her family. Both her father and grandfather had prostate cancer, but neither knew at the time that it was caused by a mutation.

She is now hoping her brother, who lives in Bristol, can be tested to find out if he is at high risk of cancer.

Beeden said she believes all cancer patients should be eligible for genetic testing.

“If I had known my risk for prostate cancer when my father was diagnosed, I would have gotten it too.” [breast cancer] When the tumor was just a pea-sized lump instead of growing bigger and spreading.

“I think that’s something that I and others will always struggle with.”