A woman who has been diagnosed with a rare form of inherited female breast cancer has told her doctors she has a genetic disorder that causes her to have an abnormal number of X chromosomes, but that doctors are now discovering are genetic and can therefore determine her biological sex.
Dr Michelle Haggerty, a consultant ophthalmologist at St Thomas’ Hospital in the UK, has had two tests done on her.
“It’s been quite frustrating, but it’s a diagnosis that’s been made in my office,” she said.
“I’m not really sure what to do.”
Dr Haggerts symptoms include headaches, nausea and a persistent cough.
She told the BBC: “I feel like I’m a ghost.”
Her symptoms have not been fully understood, so Dr Haggert said she would not have her first breast scan if the results had not been negative.
She said the results were not conclusive, but they were a very early diagnosis.
“The doctors are not sure what I’m dealing with, and I can’t say anything about it,” she added.
Dr Hagants first test came back negative for the disorder.
“My breast cancer is a very rare disease and is rare in women,” she explained.
“If you look at any other disease, the number of women who have breast cancer will be much higher.”
There is nothing we can do for my daughter.
“Dr Haig’s symptoms are consistent with other women with breast cancer who have not had a test negative.
The condition is rare but has been reported in up to 2,000 women a year in the US, the UK and Australia.
“There is a risk of it causing problems down the road, but there’s nothing that will change it.””
But there is nothing that can be done,” she told the broadcaster.
“There is a risk of it causing problems down the road, but there’s nothing that will change it.”
I would say that is the biggest concern right now.
“They are very worried and that’s why they are testing me.”
Dr Hannah Hart, a specialist in genetic disorders at King’s College London, said the discovery was a significant step forward in understanding the condition.
“This could have major implications for women and the NHS,” she wrote on Twitter.
“It is very exciting news to know that we are getting closer to understanding how this condition affects people and their health.
It is clear that the medical profession must do much more to explore the cause of this rare genetic disorder and to help women who are in this situation.”
Dr Hart added that it would be important to know more about the genetic component of the condition to be able to identify the best treatments.
The discovery of the genetic disorder, also known as female breast tumor, has led to an increased interest in the potential health benefits of genetic testing, which is now being used in other areas of the world, such as on pregnant women and in breast cancer research.
The discovery of genetic breast cancer affects around 1,000 people in the USA, the US and the UK.
The condition has not been studied extensively in humans, but is known to be caused by mutations in a gene known as Xq28, which codes for a protein called the estrogen receptor-1.
The gene causes a variety of symptoms including breast cancer, and is also involved in sex development.
Scientists have been researching the genetic basis of the disorder since 2010, but have been hampered by the lack of genetic data on the disease.
“We’ve known about the Xq22 mutation for about 15 years and so the research has been ongoing, but until recently, there was no way to do a definitive test on an individual,” Dr Hart told the Independent.
“Now we are seeing the first results and the results are quite clear.”
Dr Harrison said the genetic test would help doctors identify patients who might have the condition before they did.
“People may be thinking, ‘What is this?
I’m not a candidate’,” he said.”
The answer is there is a genetic component to this.
If you are a candidate for breast cancer it could be genetic, but not necessarily the condition.”
Dr Hanley, of the Wellcome Trust, said that until now the gene had been “not really understood”.
“It could be that there is something that makes the X chromosome more sensitive to estrogen, but I don’t know that yet,” he said, adding that the results would not help doctors make a decision about the patient.
Dr Harrison added that the UK’s Human Genetics Laboratory is looking into the gene.
“This is a huge achievement,” he added.
“They are finding a lot of information in the DNA that could help doctors diagnose breast cancer.”
“It would be really important to understand the genetics of this and what other mutations might be associated with it so that we can be able better understand this disease,” he told the TV station.
“And also to help patients understand what it means