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

Where women live may influence ovarian cancer survival, especially among Black women – study

Published

on

Women living in socially vulnerable neighbourhoods had a 20 per cent higher risk of death after an ovarian cancer diagnosis, a study found.

Black women also faced a 45 per cent higher risk of death than white women.

Researchers said the combination of being Black and living in a highly vulnerable neighbourhood was linked to a greater risk of death than would be expected from either factor alone.

Francesmary Modugno, professor in the Department of Obstetrics, Gynecology and Reproductive Sciences at the University of Pittsburgh and senior author, said: “We expected residential context to influence outcomes, but what surprised us was how much stronger the impact was for Black women.

“Our findings suggest that it’s not simply where someone lives. The interaction between a woman’s lived experience and her residential environment may be helping drive these persistent disparities.”

Modugno is part of the Women’s Cancer Research Center, a collaboration between UPMC Hillman Cancer Center and Magee-Womens Research Institute.

Epithelial ovarian cancer is the deadliest form of gynaecological cancer, with around half of patients surviving for five years after diagnosis.

Survival is lower among Black women, with fewer than 40 per cent alive five years after diagnosis.

Differences including age at diagnosis, cancer stage and tumour type explain some of the survival gap, but researchers said a substantial proportion remains unexplained.

Researchers examined whether social determinants of health, including conditions in the communities where patients live, could help explain the remaining difference in outcomes.

The study, carried out with researchers at the University of Alabama at Birmingham, analysed data from 2,544 women diagnosed with epithelial ovarian cancer and treated at the O’Neal Comprehensive Cancer Center.

The group included 509 Black women and 2,035 white women.

Researchers linked patients’ residential census tracts to the US Centers for Disease Control and Prevention’s Social Vulnerability Index.

The index measures neighbourhood factors including poverty, housing conditions, transport access, educational attainment and other socioeconomic challenges.

Black women in the study were more likely to live in highly vulnerable neighbourhoods.

However, where women lived did not fully explain the racial difference in survival.

Black women had poorer survival than white women even when they lived in similarly advantaged communities, while being Black and living in a highly vulnerable neighbourhood together was associated with a greater risk of death than expected from either factor alone.

Researchers said the findings could help health systems and cancer services identify women at greater risk and provide additional support.

Possible measures include patient navigation programmes, transport assistance, childcare support and survivorship services to help patients complete treatment and manage the challenges of cancer care.

Rebecca Arend, associate professor of gynaecology oncology at the University of Alabama at Birmingham, said: “Our findings reinforce that we must better understand and address the barriers patients face in their communities and ensure that every woman has equitable access to high-quality care.”

Arend, who is also associate director of clinical research at the O’Neal Comprehensive Cancer Center, added: “Translating research into meaningful improvements in cancer outcomes is only possible through strong collaborations among academic medical centres, researchers and community partners.”

The study builds on research published in 2025 led by Modugno and University of Pittsburgh colleagues using data from UPMC Hillman Cancer Center in western Pennsylvania.

That research also found an association between social vulnerability and ovarian cancer survival.

The latest analysis included a substantially larger group of Black women and examined more closely how residential conditions might contribute to racial inequalities in outcomes.

Researchers said the findings need to be replicated in other parts of the US and among additional racial and ethnic groups to determine how widely they apply.

Future work will examine other social and environmental factors that could affect ovarian cancer survival, including neighbourhood pollution, access to food and community resources.

Researchers hope the findings could lead health systems to develop more targeted support for patients at greatest risk of poor outcomes.

Adding neighbourhood measures such as the Social Vulnerability Index to cancer care planning could help health systems identify women facing barriers to care and connect them with support during treatment.

Continue Reading

Diagnosis

We are wrapping our children in plastic and calling it care

Published

on

By Ciara Donlon, founder & CEO of MOSS

A baby is born.

In the first hours of their life, before they have tasted food, before they have felt sunlight, before they have learned the sound of their own name, they are wrapped in a nappy.

That nappy, in most cases, is made from plastic, synthetic polymers, and wood pulp sourced from trees that took decades to grow.

It will be used for two hours. It will sit in landfill for five hundred years plus.

We do this up to eight times a day. For three years. For every baby born.

I have spent the better part of my adult life working with bamboo, not as a founder chasing a trend, but as someone who has watched this material perform under the most demanding conditions imaginable.

Before MOSS, I built THEYA Healthcare, one of Ireland’s first femtech companies, pioneering bamboo-based care for women undergoing breast cancer treatment, backed by clinical trials from UCD (University College Dublin).

When I turned to what came next, the answer was staring at me from every buggy on the street.

We are living through a crisis our children will inherit entirely. Conventional nappies are the third largest single-use plastic item in household waste.

An estimated three hundred million go to landfill every year.

The tree-derived wood pulp in their absorbent cores is responsible for the destruction of one billion trees annually, and the plastic components that make them leak-proof make them essentially indestructible once discarded.

A child who goes through approximately 6,000 nappies in three years generates a legacy of waste that will outlast not just them, but generations to come.

I am not writing this to make parents feel guilty. Parents are doing the very best they can. I am writing this because the industry has not given them a genuine alternative, and I believe that is something we have a responsibility to change.

MOSS was built on one question: what would a nappy look like if it were designed entirely around what was best for the baby’s skin and best for the planet they will grow up in?

The answer was bamboo, and I say that not from instinct, but from evidence.

Through THEYA’s research at University College Dublin, bamboo viscose fibre was tested against cotton across every performance metric that matters for fabric worn against the most sensitive skin.

In antibacterial testing, bamboo resulted in a 97 per cent reduction in tested bacteria. Cotton produced a 0 per cent reduction. In absorbency and breathability testing, bamboo outperformed cotton and all leading competitor products.

When I turned to nappies, manufacturer testing confirmed what the clinical evidence had shown.

MOSS’s bamboo absorption core matches or outperforms conventional wood pulp cores on every performance measure: faster second-cycle absorption, significantly less rewet against the skin, and higher total absorption capacity across every size.

In the MOSS parent product trial: 88 per cent of parents felt their baby was drier, 93 per cent found them softer, 73 per cent reported fewer leaks, and 87 per cent said they would recommend MOSS.

Bamboo is 59 per cent more absorbent than cotton. Ten times more bamboo can be grown per square metre.

It requires no irrigation, no pesticides, no insecticides, no synthetic inputs, while cotton accounts for nearly 30 per cent of global pesticide and insecticide sales and needs 20,000 litres of water to produce a single T-shirt.

Bamboo sequesters five times more carbon per hectare than most trees, regenerates from its own root system without replanting, and harvesting it does not kill the plant.

What that means in practice: a softer material better for the health of the baby’s skin, proven to reduce bacterial load and regulate temperature, is also the most sustainable choice available.

These are not competing priorities. They are the same priority.

We are the only nappy brand in Europe that does not require a single tree to be cut down for production.

MOSS nappies contain no tree-derived pulp, no PFAS, no fragrance, no alcohol, no bleach. They are between 60-100 per cent bamboo.

THEYA Healthcare was recognised by the Cartier Women’s Initiative Awards for its work at the intersection of materials science, sustainability, and women’s health.

That recognition mattered less than what it signified: designing for the people the industry had left behind is not a niche. It is the future.

When I turned to nappies, I brought the same lens. Who is being left behind?

Two groups: the baby, whose skin deserves a material free from synthetic chemicals; and the planet, which cannot absorb another generation of single-use plastic waste at current volumes.

MOSS exists for both of them.

I think often about what it means to build something for babies in 2026. These children will live into the 2100s.

The decisions we make in the next decade, about materials, about what we choose to manufacture and what we choose to discard, will shape the world they inherit in ways that are difficult to overstate.

One nappy brand will not solve the climate crisis. But founders have a responsibility to ask harder questions, to look at an industry built on cheap plastic and ask: does it have to be this way?

It does not.

What I found when I went looking was that the sustainable choice was also the better choice for the baby. Bamboo is softer than cotton. More absorbent. Naturally antibacterial, temperature-regulating, and proven to support skin health at a clinical level.

The product that was better for the planet turned out to be better for the child wearing it.

I built MOSS because I believe that the standard of care we offer newborns, in the materials we choose, the ingredients we exclude, should be as considered as every other decision a parent makes.

And because when parents are given a genuine choice, they will make it.

We owe it to them to make that choice available. We owe it, even more, to the children and future generations.

About the author

Ciara Donlon is a multi award-winning entrepreneur with nearly 30 years of experience in corporate strategy, e-commerce, and medical devices.

She is the Founder & CEO of MOSS and the founder of THEYA Healthcare, one of Ireland’s first femtech companies. THEYA’s bamboo fabric research was conducted at University College Dublin in conjunction with four Dublin teaching hospitals. Ciara is a Cartier Women’s Initiative laureate for Europe.

After a decade working in e-commerce in the corporate world, in 2010, Ciara transitioned to entrepreneurship, founding a lingerie business inspired by her interactions with breast cancer survivors, revealing a gap for non-toxic underwear for women undergoing treatment.

This led to Theya Healthcare, where she pioneered bamboo-based post-surgical innovations, backed by clinical research and protected by global patents.

Under her leadership, Theya gained international acclaim for its innovative approach to comfort and safety.

Now, as CEO of MOSS, she is transforming the baby care market, driven by a simple belief: that the everyday essentials of parenthood should give parents genuine peace of mind and protect babies, without compromising their health or the planet.

MOSS publicly launches 5th October 2026. Founding Members can register from 7th September at mossnappies.com

Continue Reading

Entrepreneur

TidalSense raises £14m to expand five-minute COPD test across NHS

Published

on

Cambridge health tech company TidalSense has secured £14.2m in funding led by Cross-Border Impact Ventures to expand its AI-powered lung disease test across the NHS and into Europe and the US.

The investment, which also includes returning backers BGF, Airstream Capital and Foresight Group, will fund the rollout of a handheld diagnostic device that can detect chronic obstructive pulmonary disease (COPD) in as little as five minutes.

It will also support the development of software to diagnose asthma using the same platform.

Donna Parr is managing partner at Cross-Border Impact Ventures.

She said: We look for technology that doesn’t just have a compelling story, but a body of clinical evidence behind it.

“TidalSense has both, with a CEO who has lived the problem she’s solving, and a product that’s already live within the NHS healthcare environment, saving time for patients who have waited years for an answer.

“It is also technology that can improve access to appropriate treatment for COPD sufferers on a global basis and especially for women who are often misdiagnosed.

“This is exactly the kind of impact we want to make with our investments.”

COPD, a progressive condition that restricts airflow and makes breathing increasingly difficult, is the third leading cause of death in England, according to the NHS.

It is responsible for about 30,000 deaths each year and costs the health service an estimated £1.9bn annually.

The company believes its technology could transform how respiratory disease is diagnosed by replacing the need for conventional spirometry in many settings.

Patients simply breathe normally into the handheld device for 75 seconds while artificial intelligence analyses the breath in real time.

A diagnosis is then displayed on screen, allowing clinicians to complete the entire process in around five minutes.

TidalSense says the technology allows clinicians to assess as many as six patients an hour, compared with roughly one an hour using spirometry, which has remained the standard diagnostic test for COPD despite changing little since it was first developed in the 19th century.

Spirometry requires patients to perform forceful breathing manoeuvres and typically needs specialist staff to administer.

TidalSense chief executive Ameera Patel said: “Our ambition is really bold and broad, and it is to have a really significant impact at a population level on chronic respiratory diseases like COPD and asthma.

“We want the test to be available to anyone the first time they present with symptoms, so there’s no bias in accessibility based on where you live, your socio-economic status or your ethnicity.”

Founded in 2013 by chief engineering officer Julian Carter, who holds a PhD in microelectronics and has more than 35 years’ experience developing medical devices, TidalSense has spent more than a decade building the technology.

Its AI models have been trained on more than 2.5 million recorded breaths to identify the distinctive patterns associated with COPD.

The device was introduced into the NHS last year and is now being used by public health providers in Suffolk, north-east Essex, Wales, Glasgow and community lung screening clinics across the south of England.

Continue Reading

Trending

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