CHEK2 Mutation Drives Third Cancer in 15 Years as Patient Begins Lifelong Herceptin for Stage Four Disease
核心洞察
A 53-year-old woman has been diagnosed with cancer for the third time in 15 years, now receiving lifelong Herceptin injections for stage four breast cancer (搜索).
Genetic testing after her second breast cancer (搜索) revealed a CHEK2 (搜索) mutation that can at least double lifetime breast cancer risk, according to Breast Cancer Trials.
After successful removal of a brain tumour (搜索), she requires Herceptin every three weeks and MRI scans every three months for the rest of her life.
A 53-year-old grandmother from Stourbridge in the West Midlands is receiving lifelong targeted therapy for stage four breast cancer (搜索) after being diagnosed with the disease for a third time in 15 years, a case that underscores the long-term surveillance burden carried by carriers of inherited cancer-predisposing mutations.
Kirsty Priest was first diagnosed with stage three breast cancer (搜索) at age 38, when she was a single parent to a daughter and an autistic son. Her treatment at that time comprised a mastectomy with further surgery, chemotherapy, radiotherapy and 18 months of the drug Herceptin. "I just thought it was a death sentence, 'I'm not going to survive this, but I've got to survive this because I have two children' - and I did," she said.
Approximately 10 years later, after being given the all clear following a mammogram, she found a lump. Doctors confirmed the cancer was different from her first diagnosis, and she chose a second mastectomy with further treatment.
Genetic Testing Identifies CHEK2 Mutation
Following her second bout of cancer, Priest was offered a genetic test, which identified a CHEK2 (搜索) gene mutation. She described the finding as relatively new to the clinicians she saw at the time: "the nurses were reading it off a piece of paper to me because they hadn't heard about it or been trained about it."
According to the NHS, when more cases of breast cancer (搜索) are detected in families than would be expected, it can be due to inheriting such mutated genes. Breast Cancer Trials states that an abnormal CHEK2 (搜索) gene can, at the very least, double a person's risk of breast cancer during their lifetime.
The mutation was inherited from her father, who Priest said felt a sense of guilt. Another member of her family also carries the gene, while her daughter does not.
Brain Tumour and Stage Four Diagnosis
Towards the end of last year, Priest began experiencing shoulder pain. By February she was feeling dizzy and bumping into things. A doctor attributed the symptoms to vertigo and prescribed painkillers. A second opinion from nurses at her yearly health check-up the same day prompted an immediate referral to A&E, where within 24 hours she was told she had a brain tumour (搜索).
The tumour was successfully removed, but she was subsequently informed she was again being treated for breast cancer (搜索), now at stage four. "Even though I've got no tumours in my body, they're suspecting that I've got lots of cancer cells floating around my body so they're targeting killing that with chemo," she said. The aim of the injections, she added, is to stop cancer cells from "splitting and attaching" in her body.
Her ongoing regimen consists of Herceptin injections every three weeks alongside MRI scans every three months for the rest of her life. She described the disease as incurable but controllable: "It's incurable but it's about controlling it from spreading." Of her prognosis she said: "Touch wood, I could live for years. We haven't got a crystal ball, they don't know how long I've got, but if I'm having all of this treatment, I'm heading it straight on."
Fundraising and Support for Treating Units
After being told she was in remission from her second breast cancer (搜索), Priest began fundraising for the breast cancer ward at Russells Hall Hospital (搜索) in Dudley, where she was treated, and has since raised £11,500 for the unit. Friends have organised a charity fundraising night for the two hospitals that helped her, with DJs playing at The Fox Inn at Stourton in Staffordshire next month.
Reflecting on her repeated diagnoses, Priest said: "You just think, 'What have I done to deserve this? I must be a really bad person', but I know I'm not a bad person. I do a lot for others. I think it's just bad luck. I've got the gene and it's come back."