News
Study identifies why some breast cancers become resistant to hormone therapy
Scientists analysed genetic mutations in the circulating tumour DNA of patients with advanced ER-positive breast cancer
A team of British researchers have discovered why some advanced oestrogen receptor (ER) positive breast cancers become resistant to hormone therapy.
Researchers at The Institute of Cancer Research, London, found that for four per cent of patients with breast cancer, mutations in the oestrogen receptor gene (ESR1), called F404, when combined with specific pre-existing mutations, caused resistance to fulvestrant hormone therapy.
They found that cells with these mutations remained sensitive to a range of compounds which are currently being tested in clinical trials.
The scientists hope that in the future, if these new drugs are approved, patients likely to develop treatment resistance through F404 mutations could be identified with a blood test and offered new, alternative treatments.
Fulvestrant is a widely used type of hormone therapy that is usually given to people with ER-positive breast cancer, either as a first line of treatment or once other drugs have stopped working. However, patients’ cancers will very often develop resistance to the treatment over time.
‘This could revolutionise the way we treat breast cancer’
The research, which was published in the journal Cancer Discovery, involved studying blood samples donated by people taking part in the plasmaMATCH clinical trial.
In the trial, researchers used liquid biopsies to analyse small traces of cancer DNA in the blood which have been released from tumour cells.
The team analysed these blood samples, looking at genetic mutations in the circulating tumour DNA of patients with advanced ER-positive breast cancer and observing how they responded to fulvestrant.
ER-positive breast cancers use oestrogen in the body to help them to grow, and hormone therapies like fulvestrant target the oestrogen receptor to prevent this.
Researchers in this study wanted to understand how mutations in the gene that codes for the oestrogen receptor, ESR1, can contribute to fulvestrant resistance.
They found that in four per cent of patients, following fulvestrant treatment, their breast cancer developed specific mutations in the ESR1 gene, called F404.
These new mutations only occurred in patients who already had certain existing mutations in the ESR1 gene before treatment. The researchers noted that the combined effect of these pre-existing and new mutations was a “profound resistance” to fulvestrant.
The team then tested a series of hormone therapies currently in clinical development on cancer cells with the F404 mutations. They were encouraged to discover that fulvestrant-resistant cancer cells with F404 mutations were sensitive to all four therapies tested.
Professor Nicholas Turner, professor of molecular oncology at The Institute of Cancer Research and consultant medical oncologist at The Royal Marsden NHS Foundation Trust, said: “Our study makes use of innovative blood tests which detect genetic changes present in a patient’s cancer, without the need for any invasive procedures.
“The discovery of these specific genetic changes in oestrogen receptor positive breast cancer helps to explain one mechanism by which some patients develop resistance to fulvestrant, and which upcoming treatments will be likely to work instead.
“This could revolutionise the way we treat breast cancer, by making use of these simple blood tests to match patients to alternative treatments, bringing them the best possible outcome.”
Dr Kotryna Temcinaite, head of research communication and engagement at Breast Cancer Now, said: “These findings help us understand how secondary breast cancer can become resistant to hormone therapies like fulvestrant and what other treatments we could use in the future if this resistance happens.
“With an estimated 61,000 people living with secondary breast cancer in the UK, research like this is vital”.
Dr Nisha Duggan, science engagement manager at Cancer Research UK, added: “Research discoveries like this help scientists find better ways to treat cancer.
“Understanding why a drug like fulvestrant stops being effective will help researchers and doctors identify the best medicines available for people living with certain types of breast cancer and develop new therapies.”
She added: “This would provide people living with specific types of cancer with more effective treatment options, ultimately helping them to live longer, better lives.”
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Women with primary infertility may face a higher risk of early menopause and reach it about a year earlier, a study suggests.
The findings suggest women with primary infertility may be more likely to enter menopause before the age of 45.
The increased risk appeared most notable among women with unexplained infertility or a history of endometriosis.
Dr Stephanie Faubion, medical director for The Menopause Society, said: “This study shows that women with primary infertility, specifically those with unexplained infertility or a history of endometriosis, were at risk for early menopause.
“Given that early menopause is linked to adverse long-term health consequences, these women may benefit from counselling that they are at risk of early menopause.
“This will allow them to monitor for early menopause and to seek treatment with hormone therapy, if indicated.”
Early menopause is usually defined as menopause before age 45, while premature menopause is menopause before age 40.
Women who experience menopause earlier may face symptoms for longer and have a higher risk of long-term health problems.
These can include cardiovascular disease, osteoporosis and neurocognitive disorders. Osteoporosis weakens bones, while neurocognitive disorders affect memory, thinking or brain function.
The study, highlighted by The Menopause Society, involved nearly 700 people, roughly half of whom had been diagnosed with primary infertility.
It found that women with a history of primary infertility underwent natural menopause about one year earlier than those without such a history.
Researchers found no association between infertility and premature menopause.
Infertility affects around one in six people globally and can have consequences beyond family planning.
Previous research has linked infertility with higher rates of cancer and cardiovascular disease, although causes vary and may involve genetic, hormonal, in-utero or lifestyle factors.
In-utero factors are influences that occur while a baby is developing in the womb.
Earlier studies looking at links between infertility and early or premature menopause have produced mixed results, with some not accounting for different types of infertility.
The new study suggested that women with unexplained infertility or a history of endometriosis may have an increased risk of early menopause.
Endometriosis is a condition where tissue similar to the lining of the womb grows elsewhere in the body. It can cause pain, heavy periods and fertility problems.
Known risk factors for early or premature menopause include tobacco use, low body mass index, not having given birth and starting periods at a younger age.
Women who have had more childbirths and those with a history of oral contraceptive use have previously been linked to later menopause.
The researchers said women with primary infertility may benefit from additional counselling because of the systemic and long-term health effects of early menopause.
They also said women should be encouraged to seek evaluation and treatment if they experience a new loss of menstrual cycles.
A non-profit has launched an endometriosis documentary featuring Amy Schumer and Marilyn Monroe as it pushes for changes in how the condition is treated and understood.
The Endometriosis Collective has launched to change how endometriosis is researched, treated and understood, starting with a documentary featuring stories from people including Amy Schumer and Marilyn Monroe.
The feature-length documentary, “End of the Cycle”, will premiere in New York on Tuesday, and The Endometriosis Collective is making the film free to stream online.
Schumer, a comedian, writer and actor, has previously spoken of how endometriosis left her “on the floor in pain, vomiting from the pain, the pain that nobody can see.”
Schumer is one of several celebrities featured in the documentary. Other contributors include dancer Julianne Hough, Olympic medallist Brittany Brown and actors Janel Parrish and Folake Olowofoyeku.
The Endometriosis Collective timed the documentary premiere to coincide with the 100th anniversary of Marilyn Monroe’s birth.
Monroe, who died in 1962, starred in films such as “Some Like It Hot” and “Gentlemen Prefer Blondes.”
According to a biography published in 1985, Monroe’s endometriosis was so severe that it destroyed her marriages, her wish for children, her career and ultimately her life.
The Endometriosis Collective said the documentary shares newly uncovered information about Monroe’s experience with endometriosis.
The non-profit said the information connects Monroe’s story to the experiences of women across generations, highlighting how far awareness, research and care still have to go.
A representative of the Marilyn Monroe Estate said: “By sharing this part of her story through ‘End of the Cycle,’ we hope to honour her legacy in a way that brings visibility to endometriosis, encourages more open dialogue and helps inspire the research needed to create change.”
As part of the premiere, The Endometriosis Collective is holding a panel discussion.
Schumer, Brown and Olowofoyeku, the documentary’s co-directors Sammy Jaye and Soraya Simi, and medical experts are due to be part of the premiere.
AbbVie’s Orilissa and Sumitomo Pharma’s Myfembree are among the approved drugs for endometriosis pain.
Hough, one of the participants in the documentary, starred in an Orilissa campaign in 2017.
News
Bridging the metabolic wealth gap: The telehealth platform bypassing insurance to democratise care
As weight-loss treatments remain locked behind prohibitive paywalls, a new direct-pay initiative is cutting costs in half for low-income patients, and it could provide a new blueprint for health equity.
It is one of the most persistent, frustrating paradoxes in modern healthcare: the medical innovations most capable of addressing widespread chronic conditions are overwhelmingly priced out of reach for the populations most vulnerable to them.
Nowhere is this more evident than in the current landscape of metabolic health and weight management.
As state governments and insurance providers increasingly restrict coverage for advanced weight-loss medications due to skyrocketing costs, a stark dividing line has emerged. Clinical need is no longer the primary factor in who receives treatment. Affordability is.
This financial barrier disproportionately impacts women, who not only face high rates of metabolic conditions but also frequently serve as the primary caregivers in their households.
For a single mother managing childcare, grueling work hours, and the relentlessly rising cost of living, personal well-being is often the first casualty of a tight budget.
These patients are forced into a holding pattern, watching their conditions progress year after year while highly effective, life-changing treatments remain separated from them by a paywall.
Now, a telehealth platform called Amble Health is attempting to dismantle that wall by bypassing the traditional insurance apparatus entirely.
A Structural Shift for Access
Today, Amble Health announced the launch of the Amble Cares Program, a national initiative designed to cut the cost of medical weight-loss treatments in half for low-income Americans.
The programme arrives at a critical inflection point.
Today, roughly one in eight U.S. adults have utilized advanced metabolic medications, according to a recent KFF Health Tracking Poll.
This surge in adoption has driven a fundamental shift in preventative care, but the distribution of that care has been deeply uneven.
Through the Amble Cares Program, eligible patients can access comprehensive medical weight-loss programmes, which may include prescription medications if clinically appropriate, at up to 50 per cent below standard rates.
To ensure the discounts reach the intended demographic, eligibility is determined by an independent, third-party verification partner, based on verified financial need.
The programme explicitly prioritises individuals and families with limited disposable income, including parents and guardians whose financial flexibility is tied up in providing for dependents.
Once verified, patients are connected directly to licensed clinicians to begin treatment immediately, stripping away the friction of waiting periods.
“Healthcare should not be a luxury item,” said Joey Stiver, CEO of Amble Health. At Amble, we believe that a patient’s zip code or income shouldn’t dictate their metabolic health outcomes.
“The Amble Cares Program is our direct response to the cost of living crisis, moving beyond talk of ‘affordability’ to actually delivering it to the people the traditional system has left behind.”
The Direct-Pay Trade-Off
However, this rapid, lower-cost access comes with a significant structural trade-off.
To achieve these price reductions and eliminate the administrative delays, denials, and red tape associated with traditional healthcare, Amble Health operates strictly as a direct-pay platform.
This means participants cannot use outside coverage. The programme does not accept Medicaid, Medicare, commercial insurance, or even HSA/FSA funds.
For some patients, being entirely locked out of utilizing their existing health benefits may present a new kind of hurdle.
But for those who have already found themselves abandoned by traditional coverage networks, facing outright denials, unnavigable prior authorisations, or insurmountable deductibles, the direct-pay model offers a predictable, transparent alternative to a broken system.
Ultimately, the Amble Cares Program is making a bold bet: that the most efficient way to deliver equitable healthcare to disenfranchised populations isn’t to fix the traditional insurance system, but to innovate entirely around it.
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