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Gene finding paves way for new targeted breast cancer treatment

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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.”

Diagnosis

WHO launches AI tool for reproductive health information

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The World Health Organization (WHO) has launched an AI tool in beta to help policymakers, experts and healthcare professionals access sexual and reproductive health information faster.

Called ChatHRP, the tool was created by WHO’s Human Reproduction Programme and draws only on verified research and guidance collected by HRP and WHO.

It uses natural language processing and retrieval-augmented generation to produce referenced content and cut the time spent searching through documents across different platforms and databases.

WHO said ChatHRP also has multilingual capabilities and low-bandwidth functionality to support use in a wide range of settings.

The beta-testing phase is aimed at a broad professional audience, including policymakers, healthcare workers, researchers and civil society groups.

WHO said the tool can help users quickly access up-to-date evidence, find sources for academic work and verify information on sexual and reproductive health and rights.

Examples of questions it can answer include the latest violence against women data in Oceania for women aged 15 to 49, recommendations on managing diabetes during pregnancy, and whether PrEP and contraception can be used at the same time. PrEP is medicine used to reduce the risk of getting HIV.

WHO added that the system will be updated regularly as new HRP materials are published and includes a feedback loop so users can flag gaps in the information provided.

The launch comes amid wider concern about misinformation in sexual and reproductive health.

A 2025 scoping review found that misinformation in digital spaces is a systemic issue that can undermine human rights, reinforce discriminatory social norms and exclude marginalised voices.

The review also said misinformation can affect health systems by shaping provider knowledge and practice, disrupting service delivery and creating barriers to equitable care.

WHO said ChatHRP is intended to give users streamlined access to reliable information as a counter to “algorithms, opinions, or misinformation”.

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Diagnosis

AI maps how reproductive organs age differently during menopause

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An AI atlas has mapped how reproductive organs age through menopause, with the ovaries, vagina and uterus changing on different timelines.

To better understand how this process affects health, researchers at the Barcelona Supercomputing Center developed what they describe as the first large-scale atlas of female reproductive system ageing, using artificial intelligence.

The team combined 1,112 tissue images from 659 samples, covering 304 women aged 20 to 70, with gene expression data from thousands of genes.

This allowed them to reconstruct how seven key reproductive organs, including the uterus, ovary, vagina, cervix, breast and fallopian tubes, age over time.

The study used the supercomputing power of MareNostrum 5 together with advanced image-recognition methods to process the data.

Using deep learning techniques, the researchers detected visible tissue changes as well as the underlying molecular processes linked to ageing in each organ.

The result was a detailed, organ-by-organ map of the reproductive system’s ageing process.

The researchers found that not all organs age in the same way or at the same speed. The ovaries and vagina showed a more gradual ageing process that begins even before menopause officially starts.

By contrast, the uterus appeared to undergo more sudden changes around the time of menopause.

Even within a single organ, different tissues aged at different rates. In the uterus, for example, the mucosa, its inner lining, and the muscular layer did not change in sync. These tissues also appeared to be particularly sensitive to the hormonal and biological shifts associated with menopause.

Marta Melé, leader of the transcriptomics and functional genomics group at BSC and director of the study, said: “Our results show that it acts as a turning point that profoundly reorganises other organs and tissues of the reproductive system, and allows us to identify the genes and molecular processes that could be behind these changes.”

Building on the finding that organs age according to different patterns, co-first author Laura Ventura said the research “paves the way for personalised medicine where treatments are tailored to a woman’s specific molecular profile and the specific tissues showing the most age-related distress.”

The study also identified molecular signals linked to reproductive ageing that can be detected in blood samples from more than 21,441 women.

These biomarkers could allow doctors to monitor the condition of reproductive organs in a non-invasive way, potentially helping to anticipate risks such as pelvic floor complications without the need for biopsies.

According to the researchers, this could lead to simpler and more accessible clinical tools for tracking women’s health over time.

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Pregnancy

Early miscarriage care could prevent 10,000 pregnancy losses a year, study finds

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Early miscarriage care after a first loss could prevent about 10,000 pregnancy losses a year in the UK, according to a new study.

The study by Tommy’s National Centre for Miscarriage Research and Birmingham women’s hospital involving 406 women found a 4 per cent reduction in the risk of future miscarriage for women on the graded model of care compared with usual care.

Women in England, Wales and Northern Ireland currently become eligible for specialised NHS care for early baby loss only after they have had at least three miscarriages.

Tommy’s has called for women to become eligible after one miscarriage, saying this could reduce the risk of future miscarriages and improve health outcomes for mothers.

Researchers said that would translate to 10,075 fewer miscarriages a year across the UK.

Kath Abrahams, chief executive of Tommy’s, said women were being “left without early access to services that could help prevent future losses and reduce the debilitating feelings of isolation and hopelessness that we know affect so many who experience pregnancy loss”.

She said: “Our pilot study indicates that providing support after a first miscarriage, with escalating care after further losses, is not only effective but achievable without significant additional workload for NHS teams who are already working extremely hard to deliver good care.

“Put simply, it is the right thing to do. We will do all we can to drive that change across the UK so that more women and families are supported after every miscarriage.”

The graded model of miscarriage care proposed by Tommy’s is already available in Scotland, and the charity is calling for it to be introduced across the whole of the UK.

The graded model includes nurse-led support after one miscarriage, with advice on reducing risk factors such as low vitamin D, folic acid intake, alcohol consumption and caffeine use.

Women who received the specialised care were 47 per cent more likely to have a risk factor identified and receive relevant advice to help prevent future miscarriages than women receiving usual care, the study found.

Among women who had experienced two miscarriages and received the specialised care, one in five were found to have thyroid dysfunction or anaemia, both conditions that can affect pregnancy outcomes.

About one in four pregnancies ends in miscarriage, most often within the first 12 weeks of pregnancy.

The report comes ahead of the long-awaited final findings of the government’s investigation into maternity care in England. Interim findings uncovered a range of failures, including claims that NHS hospitals that caused harm to women and babies during childbirth often resorted to a “cover-up” of their mistakes, falsified medical records and denied bereaved parents answers.

Women’s health minister Gillian Merron said: “Pregnancy and baby loss can have a devastating impact on women and families, who too often feel they have been left without the care and support they need.

“I welcome the findings of this important report, and this will be carefully considered as part of our ongoing work to make sure women get the high-quality, compassionate NHS care they deserve.”

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