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.”
AstraZeneca’s breast cancer drug Etcamah has been approved in the EU as part of a combination treatment for advanced disease.
The European Commission acted on a positive opinion from the Committee for Medicinal Products for Human Use, the Cambridge, England-based drug maker said.
The decision followed positive results from the Serena-6 phase III trial, which showed a 56 per cent reduction in the risk of disease progression in advanced oestrogen receptor-positive breast cancer.
A phase III trial is a large, late-stage study used to assess a treatment’s safety and effectiveness before wider regulatory approval.
Oestrogen receptor-positive breast cancer is a form of the disease that can grow in response to the hormone oestrogen.
Etcamah, whose generic name is camizestrant, was tested in combination with a cyclin-dependent kinase 4/6 inhibitor.
Known as CDK4/6 inhibitors, these medicines block proteins that help cancer cells grow and divide.
AstraZeneca said the Etcamah combination has also been approved in Japan, the UAE and Saudi Arabia based on the Serena-6 trial results.
The company said breast cancer remains the leading cause of cancer death among women in Europe, with more than 140,000 deaths and more than 540,000 patients diagnosed in 2024.
AstraZeneca shares were down 0.6 per cent at 12,628 pence in London on Thursday.
Women newly diagnosed with breast cancer have a 59 per cent higher risk of ischaemic stroke in the first year after diagnosis, research suggests.
Researchers also said survivors who develop sudden stroke symptoms, including one-sided weakness, facial drooping, speech difficulties or vision loss, should seek immediate medical attention.
The multicentre study analysed National Health Insurance Service data from 107,606 women who underwent surgery for newly diagnosed breast cancer and compared them with 322,818 age-matched women with no history of cancer.
The research was conducted by professor Shin Dong-wook of Samsung Medical Center, professor Han Kyung-do of Soongsil University, professor Yong-Moon Mark Park of the University of Arkansas for Medical Sciences and professor Wonyoung Jung of the University of Pennsylvania.
Professor Yong-Moon Mark Park said: “The study demonstrates a time-dependent pattern in which the risk of ischaemic stroke rises sharply immediately after breast cancer diagnosis and treatment before gradually declining.
“The key finding is that we evaluated stroke risk according to different stages following diagnosis and treatment. This suggests that clinicians should consider not only how much the risk increases, but also when it is greatest.”
The study included women aged 18 or older who were newly diagnosed with breast cancer between 2010 and 2016, underwent surgery and had no previous stroke.
Each patient was matched with three women of the same birth year who did not have cancer. Participants were followed for an average of 7.2 years.
The main outcome was ischaemic stroke, also known as cerebral infarction. It occurs when a blocked blood vessel cuts off blood flow to the brain and is a leading cause of death and long-term disability.
During follow-up, ischaemic stroke occurred in 1,155 breast cancer patients, or 1.07 per cent, and 3,698 women in the control group, or 1.15 per cent.
Overall, breast cancer surgery was not linked to a significantly higher long-term risk of ischaemic stroke, and researchers recorded a slight fall in risk over time.
However, a different pattern emerged immediately after diagnosis.
Within one year of diagnosis, patients had a 59 per cent higher risk of ischaemic stroke than women without cancer.
The risk was highest during the first three months, at 2.90 times that of the control group.
It remained elevated within six months, at 2.27 times the control group’s risk, before gradually declining.
The risk was still 17 per cent higher three years after diagnosis.
Researchers said the temporary increase may be linked to cancer-related hypercoagulability, inflammatory responses to surgery and treatment, and cardiovascular stress caused by anticancer therapies.
Hypercoagulability means the blood is more likely than usual to form clots. Cardiovascular refers to the heart and blood vessels.
The increased risk was particularly pronounced among patients with hypertension, type 2 diabetes or a history of current smoking.
Hypertension means high blood pressure. Type 2 diabetes is a long-term condition affecting how the body controls blood sugar.
Breast cancer patients who smoked had a 2.26-fold higher risk of ischaemic stroke than comparable women without cancer.
Principal researcher professor Shin Dong-wook stressed the importance of vigilant care for patients with cardiovascular risk factors, especially during the early phase of breast cancer treatment.
Shin said: “Patients with hypertension, diabetes, or other cardiovascular risk factors, as well as those who smoke, require particularly careful management during the early phase of breast cancer treatment.
“If patients who have undergone breast cancer treatment suddenly develop weakness in one arm or leg, facial drooping, slurred or abnormal speech, or vision loss on one side, ischaemic stroke should be suspected, and they should seek immediate medical evaluation.”
Researchers said survivorship care should include strategies to monitor and manage cardiovascular and cerebrovascular disease risk throughout treatment as advances in breast cancer care continue to improve survival.
Cerebrovascular disease refers to conditions affecting blood flow and blood vessels in the brain.
Cancer cells may hijack a fertility protein to repair damaged DNA and survive chemotherapy, research suggests.
The findings could point to a way of making existing cancer treatments more effective.
SYCP1 is a protein normally involved in producing sperm and eggs.
Researchers at the University of Liverpool found that the protein, previously thought to work only in reproduction, can be reactivated in cancer cells, where it helps tumours survive and grow.
SYCP1 usually helps chromosomes pair during meiosis, the form of cell division that produces reproductive cells.
In cancer cells, however, the protein appears to take on another role. It enters the nucleus, the cell’s control centre, binds directly to DNA and regulates genes involved in cell division and DNA repair.
DNA repair is how cells fix damage to their genetic code. In cancer, this process can help tumour cells survive treatment.
The researchers found that removing SYCP1 made cancer cells much more sensitive to chemotherapy drugs that damage DNA.
The findings suggest cancers may use SYCP1 to repair damage caused by treatment and continue growing.
Dr Urszula McClurg, lecturer in biochemistry, cell and systems biology at the University of Liverpool, said: “Our findings show that cancer cells can hijack proteins that normally exist only in reproductive tissues and give them completely new jobs.
“Understanding these unexpected functions opens up exciting opportunities to develop new treatments that make existing cancer therapies more effective.”
The work challenges the long-held belief that proteins active only in fertility have no biological relevance outside the reproductive system.
Researchers say these specialised proteins could provide new treatment targets across many types of cancer.
The study also offers a new view of how cancers evolve by repurposing developmental and reproductive processes.
The findings highlight SYCP1 as a candidate for future precision cancer therapies, which are treatments based on the specific biology of a patient’s cancer.
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