Diagnosis
Gene finding paves way for new targeted breast cancer treatment
A gene linked to triple negative breast cancer could point to a new targeted treatment, researchers say.
Triple negative breast cancer makes up about 15 per cent of breast cancer cases. This form of the disease can be more aggressive and harder to treat than other types, with fewer targeted treatment options available.
It is also more common in women with an inherited altered BRCA gene, women under 40 and Black women.
The gene, called HORMAD1, is usually active only in reproductive cells in the ovaries and testes and stays switched off in the rest of the body. It helps ensure genetic information is distributed properly in sperm and eggs.
But in some cancers, including 60 per cent of triple negative breast cancers, HORMAD1 becomes active where it should not be. Researchers at the Breast Cancer Now Toby Robins Research Centre at The Institute of Cancer Research, London, and the Breast Cancer Now Research Unit at King’s College London found that this disrupts a key safety mechanism in cells, causing errors in DNA to be passed on to new cancer cells.
While those changes can help cancer grow and resist treatment, the researchers said they also create a weakness that could be targeted with new therapies.
The study identified several drugs already being investigated as cancer treatments that may work against triple negative breast cancer cells with an active HORMAD1 gene. The team tested whether blocking three specific proteins, Aurora B, MPS1 and BUB1, could stop the growth of cells with the active gene in the laboratory.
They also tested whether two Aurora B inhibitors, currently in early-stage clinical trials, could treat mice carrying human triple negative breast cancer tumours with the active HORMAD1 gene. The treatment reduced tumour growth. The researchers said they will now investigate whether drugs targeting Aurora B, MPS1 and BUB1 could be developed for patients with this type of breast and possibly other cancers.
Professor Andrew Tutt, director of the Breast Cancer Now Toby Robins Research Centre at The Institute of Cancer Research, London, and the Breast Cancer Now Research Unit at King’s College London, and corresponding author of the study, said:
“Although this research is still in its early stages, it offers an important step forward in understanding triple negative breast cancer and opens the door for the development of new treatments. It also highlights that testing for the activity of the HORMAD1 gene in triple negative breast cancer could guide treatment decisions in the future. Together, these insights bring us closer to developing more precise therapies for people with triple negative breast cancer.”
Dr Simon Vincent, chief scientific officer at Breast Cancer Now, which funded the research, said:
“Each year, around 8,000 UK women are diagnosed with triple negative breast cancer and it’s more likely than most other breast cancers to return or spread during the first years following treatment. There are also fewer targeted treatments available, so it’s vital we find new and effective ways to tackle this devastating disease. The findings open the door to the next crucial phase of research, where the research team can identify and test the most effective drugs or drug combinations against triple negative breast cancer with an active HORMAD1 gene, and move the safest and most promising options towards clinical trials.”
Liz Boughton, 50, an NHS finance manager from Northamptonshire, was diagnosed with triple negative breast cancer in August 2024. She said:
“In July 2024, I accidentally brushed my arm against my breast and felt a very small lump. I dismissed it until I was persuaded by my husband to make an appointment with my doctor. I was quickly referred to the breast clinic, where a whirlwind of tests led to a diagnosis of triple negative breast cancer. I was 49, healthy, with no family history. Cancer wasn’t something I expected to hear.”
“I began 6 months of neo-adjuvant chemotherapy immediately, to shrink the tumour before surgery. I was also given immunotherapy (weekly) alongside the chemotherapy, a new treatment option for some people with triple negative breast cancer, which can improve outcomes. Once treatment began, it pulled me, and those around me, into a world we never knew existed. I then underwent surgery, followed by radiotherapy and a further 9 infusions of immunotherapy over 27 weeks.”
“When you’re diagnosed with a type of breast cancer that has fewer treatment options and a higher risk of returning soon after diagnosis, it’s hard not to live with constant uncertainty about the future. It can feel like you’ve been given a life sentence, but with continued research comes hope.”
Menopause is often absent from women’s electronic health records, a study of nearly 396,000 women has found.
Researchers found menopause appeared almost seven times more often in participant surveys than in electronic health records (EHRs).
The findings suggest important reproductive health information, including age at menopause, may often be missing from health records used for research.
Audrey Hendricks, associate professor of bioinformatics at CU Anschutz and the study’s principal investigator, said: “Ultimately, we cannot study what we do not measure. We cannot treat what we do not know.
“Menopause has enormous implications for women’s health, but if we don’t consistently capture when menopause occurs and other important reproductive health information, we limit our ability to understand how this transition affects disease risk and health outcomes.”
Researchers at the University of Colorado Anschutz analysed data from women taking part in the National Institutes of Health’s All of Us Research Program.
They compared menopause information reported by participants in surveys with menopause diagnoses recorded in their electronic health records.
Around 193,000 menopause observations were identified in survey data, compared with approximately 28,000 diagnoses in EHR data.
Menopause was documented in electronic health records for only about 7 per cent of women in the dataset.
Nearly all participants with a menopause diagnosis recorded in their EHR also reported menopause in survey data. However, substantially fewer women had menopause documented in their health records.
Other important information was also frequently unavailable, including age at menopause, which researchers may use when examining links between menopause and chronic disease risk.
Menopause is a physiological transition that can affect cardiometabolic health and many other aspects of women’s health.
Researchers said relatively little is known about how factors including the timing and type of menopause influence health outcomes across diverse populations.
Large-scale programmes such as All of Us combine participant surveys, electronic health records and genomic data, but menopause-related research depends on relevant reproductive health information being available.
Missing menopause information can make it harder to investigate how the transition relates to health and disease.
The findings may also help researchers using All of Us data define menopause-related study populations, design studies and estimate how many participants are needed.
Hendricks said: “We have an enormous opportunity to use large-scale datasets to understand women’s health across the menopause transition and to identify who may be at greater risk for disease.
“But we need to make sure that the information researchers need is actually being collected.
“We must do a better job of capturing women’s health information, including reproductive health and measures related to menopause.”
Researchers said more complete and consistent collection of menopause and reproductive health information could help future studies examine factors such as age at menopause and their relationship with disease risk and health outcomes.
The FDA has granted accelerated approval to AstraZeneca drug Etcamah for certain adults with advanced breast cancer carrying an ESR1 mutation.
Etcamah, also known as camizestrant, was approved in combination with a CDK4/6 inhibitor, either abemaciclib, palbociclib or ribociclib.
The treatment is for adults with hormone receptor-positive, HER2-negative, locally advanced or metastatic breast cancer when an estrogen receptor-1 (ESR1) mutation is detected during aromatase inhibitor and CDK4/6 inhibitor therapy using an FDA-authorised test.
ESR1 mutations are acquired resistance mutations that tumours may develop during treatment with aromatase inhibitors, a type of endocrine therapy commonly used as a front-line treatment for locally advanced or metastatic breast cancer.
Fewer than 5 per cent of patients have the mutation when HR-positive metastatic breast cancer is diagnosed, according to the FDA. After disease progression on an aromatase inhibitor, nearly 40 per cent have the mutation.
Acting FDA commissioner Kyle Diamantas said: “Women living with metastatic breast cancer face an uphill battle as their tumors continuously evolve to escape treatment.
“We owe them every weapon in our arsenal.
“Today’s approval delivers a win to these patients by granting them a targeted therapy designed specifically to overcome resistance, giving them more time before their disease progresses.”
The accelerated approval programme allows earlier approval of drugs that treat serious conditions and fill an unmet medical need based on surrogate or intermediate endpoints.
For Etcamah, approval was based on how long patients lived without their disease worsening, measured from when the resistance mutation was first detected in their blood.
The FDA said it has not yet been confirmed whether intervening when the mutation is detected, rather than waiting until disease progression is confirmed, results in a clinically meaningful benefit. Confirmatory studies are therefore required to verify and describe clinical benefit.
Angelo de Claro, director of the FDA’s Oncology Center of Excellence, said: “I commend both the FDA and the sponsor for their commitment to advancing cancer care and securing this accelerated approval.
“This marks the first FDA approval of a cancer therapy guided by the detection of a resistance mutation in circulating tumor DNA (ctDNA) before imaging tests show that the disease is progressing.
“But additional evidence is needed to confirm clinical benefit.”
Circulating tumour DNA, or ctDNA, consists of small pieces of tumour DNA released into the blood and can allow earlier molecular detection of resistance mutations.
The FDA also authorised the Guardant360 CDx assay as a companion diagnostic to identify patients with breast cancer who have ESR1 mutations for treatment with camizestrant.
Efficacy was assessed in a clinical trial comparing a switch to Etcamah plus a CDK4/6 inhibitor with continued treatment using an aromatase inhibitor plus a CDK4/6 inhibitor.
Estimated median progression-free survival was 16 months in the Etcamah group, compared with 9.2 months in the aromatase inhibitor group.
Etcamah’s prescribing information includes a boxed warning about the risk of irregular heart rhythm when taken with certain other medicines. It also includes warnings about an abnormally slow heart rate and potential harm to an unborn baby.
The FDA convened its Oncologic Drugs Advisory Committee for the application on 30 April 2026.
Four leading cardiovascular health groups have agreed new guidance for healthcare professionals assessing patients with suspected heart attacks.
Historically, some less common forms of heart attack, which evidence shows affect women far more than men, have been classified as less important, with treatment and care often worse as a result.
Experts said women had been receiving less effective treatments that did not always target the specific cause of their heart attack and could even make them more unwell.
The changes were announced in Munich on the opening day of the annual congress of the European Society of Cardiology (ESC).
Professor Bryan Williams, chief scientific and medical officer of the British Heart Foundation, said: “This is a landmark moment, a radical shift in how we define and diagnose heart attacks worldwide which will transform people’s care.
“For decades, women have missed out on accurate diagnoses and treatment.
“This focus on finding less common causes of heart attacks, which predominantly affect women, should help to change that. It could be life-changing for huge numbers of women in the UK and worldwide.”
The new guidance upgrades three types of heart attack that can be up to 10 times more common in women and are often caused by childbirth, exercise and emotional stress.
The most serious cases, previously known as “type 1” and now classed as “primary” heart attacks, had previously prioritised those caused by a clot blocking blood flow to the heart.
Other forms can involve reduced blood flow for different reasons, including the tightening or tearing of coronary arteries. These can be more likely to be missed or treated less urgently.
The guidance also introduces a lower diagnostic threshold for women based on levels of troponin, a protein released into the blood when the heart is injured and damaged.
Previously, women were expected to meet the same troponin threshold as men to receive a diagnosis.
Williams said the streamlined heart attack categories would also help patients understand the cause of their heart attack and what comes next.
The three upgraded types are coronary artery spasm, coronary embolism and spontaneous coronary artery dissection (SCAD).
Coronary artery spasm involves the tightening of an artery, which can deprive the heart muscle of blood and oxygen. It can be caused by emotional stress, exercise or extreme cold.
Coronary embolism occurs when a blood clot or fatty deposit travels to a coronary artery and causes a blockage.
SCAD is caused by a tear in a coronary artery. Around 80 per cent of cases occur in women, and it often happens during or soon after pregnancy.
Professor Nicholas Mills, a cardiologist at the University of Edinburgh who led the international taskforce behind the guidance, said it was “the first time that we’ve had a truly global approach to aligning how we diagnose what is probably the most important diagnosis there is”.
He said: “It kills so many people, and we’ve never got everyone together around the world to agree how we’re going to describe it, classify it, explain it to our patients.
“Our job now is to implement this as widely as possible. It’s just as relevant for the UK as it is for any other country around the world. It is a revolution. It’s going to make care better for patients.”
Mills said there had been “unintended systematic bias against women”, including through the use of the key blood test for diagnosing heart attacks at an average level, which picks up all men but misses some women.
He said: “This is used for all types of heart attack in every emergency department in the world, and we want to make sure that it’s used correctly.”
The guidance was drawn up by the ESC, the American College of Cardiology, the American Heart Association and the World Heart Federation.
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