Connect with us

Diagnosis

Breast and ovarian cancer newly linked to thousands of gene variants

Published

on

Scientists have pinpointed thousands of genetic changes in a gene that may increase a person’s risk of developing breast and ovarian cancer, paving the way for better risk assessment and more personalised care. 

Researchers from the Wellcome Sanger Institute and their collaborators focused on the ‘cancer protection’ gene RAD51C, finding over 3,000 harmful genetic changes that could potentially disrupt its function and increase ovarian cancer risk six-fold and risk of aggressive subtypes of breast cancer four-fold.

These findings were confirmed by analysing data from large-scale health databases.

The findings are freely available so that they can be immediately used to help doctors and diagnostic laboratory scientists better assess cancer risk, especially for individuals with a family history of these cancers, reducing the uncertainty that often accompanies genetic testing.

Dr Andrew Waters, co-senior author of the study at the Wellcome Sanger Institute, said: “This work demonstrates the power of analysing genetic variants on a large scale within their genomic context.

“Not only can we understand how cancer-related DNA changes affect patients, helping with clinical decisions, but we can also explore how these variants impact the gene’s function at a detailed molecular level. This provides important insights into how proteins work and how genes evolve over time.”

The study also identified regions of the protein essential for its function, pointing to new roles in cancer development and potential therapeutic targets.

Breast cancer is the most common cancer in the UK, with around 56,800 new cases every year.

One in seven UK females will be diagnosed with breast cancer in their lifetime. Ovarian cancer is the sixth most common cancer in females in the UK, with around 7,500 new cases every year.

The RAD51C gene encodes a protein crucial for DNA repair.

Variants in this gene that stop the protein from working are known to increase the risk of breast and ovarian cancers and rarely, if there are two harmful gene changes are present, may result in Fanconi Anaemia, a severe genetic disorder.

Women with a faulty RAD51C gene face a 15 to 30 per cent lifetime risk of developing breast cancer and a 10 to 15 per cent risk of developing ovarian cancer.

While genetic testing is common for individuals with a strong family history of cancer, the health impacts of most RAD51C variants were previously unknown.

This uncertainty over cancer risk often leaves patients and doctors struggling to determine appropriate medical care moving forward.

In this new study, researchers from the Wellcome Sanger Institute and their collaborators set out to understand the effect of 9,188 unique changes in the RAD51C gene by artificially altering the genetic code of human cells grown in a dish, in a process known as ‘saturation genome editing’.

They identified 3,094 of these variants that may disrupt the gene’s function and increase cancer risk, with an accuracy above 99.9 per cent when compared to clinical data.

Analysis of UK Biobank data and an ovarian cancer cohort of over 8,000 individuals further confirmed the link between these harmful RAD51C variants and cancer diagnoses.

By mapping the protein structure, the team also identified crucial surface areas of RAD51C essential for its DNA repair function.

These regions may interact with other, yet-to-be-identified proteins or play a role in processes such as phosphorylation, offering valuable insights for drug development and potential new treatment targets.

The study also revealed the existence of ‘hypomorphic alleles’ – a type of variant that reduces the RAD51C gene’s function without completely disabling it.

These appear to be more common than previously thought and may significantly contribute to breast and ovarian cancer risk.

Rebeca Olvera-León, first author of the study at the Wellcome Sanger Institute, said: “This research demonstrates that genetic risk for breast and ovarian cancer isn’t a simple yes-or-no scenario, but exists on a spectrum based on how genetic changes affect protein function.

“With a more comprehensive understanding of how RAD51C genetic variants contribute to cancer risk, this opens up new possibilities for more accurate risk prediction, prevention strategies, and potentially targeted therapies.”

Diagnosis

WHO launches AI tool for reproductive health information

Published

on

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”.

Continue Reading

Menopause

AI maps how reproductive organs age differently during menopause

Published

on

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.

Continue Reading

Pregnancy

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

Published

on

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.”

Continue Reading

Trending

Copyright © 2025 Aspect Health Media Ltd. All Rights Reserved.