Diagnosis
Millions of women with breast cancer could be spared chemo with genomic test
A genomic test may help some women with breast cancer avoid chemotherapy, with near-identical outcomes in an international trial.
The findings suggest patients with a low test score could be treated with hormone therapy alone without increasing the risk of their cancer returning.
Researchers said the results could support more personalised treatment decisions and spare some women the side-effects of chemotherapy.
Prof Rob Stein, the trial’s chief investigator and a professor of breast oncology at UCL, said: “Optima addresses a longstanding challenge in breast cancer care: identifying who truly benefits from chemotherapy and who does not.
“Our findings show that many patients can safely avoid chemotherapy without compromising their outcomes.
“These results mark an important and significant step toward more personalised treatment.
“The trial has successfully used tumour biology to guide decisions rather than relying solely on traditional clinical features.”
Breast cancer treatment usually involves surgery to remove tumours. Chemotherapy is then often recommended if doctors believe there is a risk the disease will return.
Chemotherapy can cause side-effects including hair loss, rashes, nausea, insomnia and fatigue. Some women may also face longer-term consequences such as infertility, cognitive impairment or early menopause.
The Optima trial followed more than 4,000 patients with newly diagnosed breast cancer in the UK, Norway, Sweden, Australia, New Zealand and Thailand.
The trial was led by University College London.
One woman who took part in the trial told the Guardian that being able to skip chemotherapy felt “like Christmas”. Nine years after being diagnosed, taking the test and skipping chemotherapy, she is healthy and enjoying a full and active life.
The trial tested whether a genomic test could identify which patients need chemotherapy and which could safely avoid it.
The Prosigna test, made by diagnostics company Veracyte, analyses the activity of 50 genes in tumour tissue. It identifies the molecular subtype of the cancer and gives a score estimating the risk of breast cancer returning in the next 10 years.
The randomised trial involved 4,429 patients aged 40 or over with hormone-positive breast cancer. Hormone-positive breast cancer grows in response to hormones such as oestrogen or progesterone. It is the most common form of breast cancer, accounting for up to 80 per cent of cases globally.
Participants were assigned to one of two groups. In the standard treatment group, patients received chemotherapy followed by hormone therapy.
In the second group, patients had their tumours analysed using the genomic test. Those with a high score received chemotherapy and hormone therapy. Those with a low score received hormone therapy alone.
Radiotherapy and other treatments were given as usual in both groups.
In the second group, outcomes were very similar whether chemotherapy was given or not. Five years after treatment, 95 per cent of patients who had chemotherapy and hormone therapy were alive and free from breast cancer recurrence, while 94 per cent of those who skipped chemotherapy were also alive and recurrence-free.
The findings suggest chemotherapy offered little or no additional benefit for patients with low test scores.
Some men also took part in the study, but researchers said there were too few to draw firm conclusions for this group.
The trial received funding from the National Institute for Health and Care Research, Veracyte and cancer charities.
Prof Iain MacPherson, a co-chief investigator and professor of breast oncology at the University of Glasgow, said: “Optima provides robust, practice-changing evidence that we can safely reduce the use of chemotherapy for many patients with hormone-sensitive breast cancer.
“These findings represent a major step forward in delivering more personalised, precise care, ensuring that treatment decisions are driven by what will genuinely improve outcomes for patients, while avoiding unnecessary toxicity.
“The potential impact for both patients and health services is substantial.”
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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