Cancer
Healthy women have cells that resemble breast cancer, study finds
A new study from researchers at The University of Texas MD Anderson Cancer Center finds that, in healthy women, some breast cells that otherwise appear normal may contain chromosome abnormalities typically associated with invasive breast cancer.
The findings question conventional thinking on the genetic origins of breast cancer, which could influence early cancer detection methods.
The study, published in Nature, discovered that at least 3 per cent of normal cells from breast tissue in 49 healthy women contain a gain or loss of chromosomes, a condition known as aneuploidy, and that they expand and accumulate with age.
This poses questions for our understanding of “normal” tissues, according to principal investigator Nicholas Navin, Ph.D., chair of Systems Biology.
As researchers continue to develop earlier detection methods using molecular diagnostics along with ductal carcinoma in situ (DCIS) and biopsies, these findings pose a challenge and highlight the potential risk of identifying false positives, as the cells can mistakenly be confused with invasive breast cancer.
Navin said: “A cancer researcher or oncologist seeing the genomic picture of these normal breast tissue cells would classify them as invasive breast cancer.
“We’ve always been taught that normal cells have 23 pairs of chromosomes, but that appears to be inaccurate because every healthy woman that we analysed in our study had irregularities, bringing up the very provocative question about when cancer actually occurs.”
The study builds upon Navin’s previous work on the Human Breast Cell Atlas, which profiled over 714,000 cells to generate a comprehensive genetic map of normal breast tissue at the cellular level.
For the current study, researchers examined samples from 49 healthy women without known disease who were undergoing breast reduction surgery.
They investigated chromosomal copy number changes in normal breast tissues compared to clinical breast cancer data.
Using single-cell sequencing and spatial mapping, the researchers specifically investigated breast epithelial cells.
Navin points out that epithelial cells, which line and cover the inside and outside of the body, are the cells that are believed to give rise to cancer.
The researchers reported that a median of 3.19 per cent of the epithelial cells in these normal breast tissues were aneuploid and over 82.67 per cent had expanded copy number changes commonly found in invasive breast cancers.
Interestingly, a woman’s age correlated significantly with the frequency of aneuploid cells and number of copy number changes, with older women accumulating more of these cellular changes.
The most frequent changes were additional copies of chromosome 1q and losses of chromosomes 10q,16q and 22, commonly found in invasive breast cancers.
Previous studies have identified specific genes in these regions that also are associated with breast cancer, according to Navin.
The data reveal that these aneuploid cells represent both of the known cell lineages of the mammary gland, which have distinct gene signatures that can either be positive or negative for estrogen receptors (ERs).
One lineage had copy number changes similar to ER-positive breast cancers, while the other appeared to have events consistent with ER-negative breast cancers, highlighting their potentially different origins.
Navin notes that this is a report about rare aneuploid cells found in the normal population and that further longitudinal studies are needed to identify which potential risk factors, if any, may lead to these cells becoming cancerous.
Additionally, epithelial cells are found in many body systems, highlighting the possibility that these findings can translate to other organs.
Navin said: “It just shows that our bodies are imperfect in some ways, and we can generate these types of cells over our lifetime.
“This has pretty big implications not just for the field of breast cancer, but potentially for multiple cancer types.
“This doesn’t necessarily mean that everyone is walking around with precancer, but we need to think about ways to set up larger studies to understand the implications for developing cancer.”
An experimental cancer drug reduced bone loss and body fat in mice modelling post-menopausal changes, early research suggests.
The compound, CADD522, appeared to strengthen bones and help the animals stay leaner after surgery designed to mimic hormonal changes seen after menopause.
The treatment remains at an early experimental stage and has so far only been tested in animals.
The study, led by the University of East Anglia, investigated CADD522, which was originally developed to block a protein involved in the growth and spread of several cancers.
Mice treated with the compound for eight weeks showed significant improvements in bone health. Scans found increased bone volume and better preservation of the honeycomb-like structures inside bones that are crucial for strength and resilience.
Blood tests suggested the treatment stimulated new bone growth without interfering with the body’s normal process of breaking down and rebuilding bone.
Dr Darrell Green, lead researcher from UEA’s Norwich Medical School, said: “Osteoporosis affects around one in three women over the age of 50, leaving sufferers vulnerable to painful fractures that can seriously impact quality of life.
“Current treatments exist, but many are plagued by side effects, safety concerns or inconvenient dosing schedules that make long-term use difficult.”
The researchers also found that mice receiving CADD522 weighed less than untreated mice despite eating the same amount of food.
They had less body fat and fewer fat deposits in their bone marrow, a process commonly seen after menopause and linked to declining bone health.
The team also examined brain tissue and found that the drug appeared to reverse several menopause-related changes in fatty acids.
Levels of omega-3 fats including DHA remained largely intact, while several other lipid abnormalities shifted back towards healthier patterns.
Green said: “We didn’t directly test for memory or thinking ability, but our work raises questions about whether this drug could one day help address wider menopause-related health problems.”
Safety experiments in mice, rats and dogs found that CADD522 could be taken orally and was well tolerated.
The compound also appeared to be metabolised more slowly in human tissue than in rodents, potentially improving its performance in people.
“This is still in the early stages and has so far only been tested in animals but we hope that the benefits will translate to humans to ultimately reduce fracture rates,” added Green.
The research was led by UEA in collaboration with the University of Maryland, the Scintillon Research Institute in San Diego and the University of Stirling.
Safety testing was funded by The Sir William Coxen Trust as part of the development of CADD522 as a childhood cancer treatment.
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.
Scotland has launched a review of NHS IVF access, including whether treatment should extend to single women and couples with children from previous relationships.
The national review will assess how fertility services can better reflect modern family structures while maintaining fair and consistent access across Scotland.
It will also examine access to fertility preservation services, particularly for women who have undergone cancer treatment, and ways to cut waiting times for patients who need donor eggs or sperm.
Scotland currently offers the most comprehensive nationwide NHS IVF provision in the UK. Eligible patients can access up to three full cycles of IVF treatment through the NHS, subject to existing eligibility criteria.
Ministers will also consider updated clinical guidance from the National Institute for Health and Care Excellence.
The revised recommendations suggest patients who have not achieved a successful pregnancy after three IVF cycles could benefit from up to three additional NHS-funded treatment cycles.
The review is part of the Scottish Government’s commitment to examining how fertility services are delivered and whether they meet patients’ needs across Scotland.
Scottish health secretary Angela Constance said: “Access to NHS IVF treatment should be fair, timely and reflect the way people’s lives and families look today, and delivering this review is one of our key 100 day commitments.
“The review will look closely at the current system, including waiting times for those who need donor eggs or sperm for their treatment.
“This work builds on annual Scottish Government funding, which has supported the expansion of NHS IVF treatment over the past ten years.”
Healthcare leaders and fertility specialists will be watching closely as the review progresses, with any future changes potentially broadening access to treatment and addressing long-standing concerns around equity, consistency and waiting times.
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