Insight
15k breast cancer patients a year could benefit from genome sequencing

Whole genome sequencing could identify unique genetic features to guide treatment for more than 15,000 breast cancer patients each year in the UK, new research suggests.
The technique, which analyses DNA from both patient and tumour to identify genetic changes, helps reveal what drives each cancer and highlights potential treatment targets or resistance.
Scientists at the University of Cambridge used data from almost 2,500 women across England held in the National Genomic Research Library – one of the world’s largest resources of its kind, run by Genomics England.
The data came from the 100,000 Genomes Project and was linked to clinical and mortality records, tracking outcomes over five years.
They found that 27 per cent of breast cancer cases had genetic features that could help guide personalised treatment immediately, either using existing drugs or through clinical trials – equivalent to more than 15,000 women a year in the UK.
Professor Serena Nik-Zainal is from the Department of Genomic Medicine and Early Cancer Institute at the University of Cambridge.
She said: “The UK is a genuine world-leader in its ability to do whole genome sequencing through the NHS Genomic Medicine Service.
“Now that we have population-level evidence of how impactful whole-genome sequencing could be, we have the potential to make a difference to thousands of patients’ lives every year, helping tailor their care more precisely, giving more treatment to those who need it and less to those who don’t.”
Among the key findings were HRD (homology-directed repair deficiency) – a DNA repair issue found in 12 per cent of breast cancers – unique mutations that could be targeted with specific drugs, signs of resistance to hormone therapy, and mutational patterns suggesting weaknesses that treatments could exploit.
An additional 15 per cent of cases had features useful for future research, such as problems in other DNA repair pathways, equating to about 8,300 women a year.
The analysis also offered insights into prognosis. In ER+HER2– breast cancers – the most common subtype, accounting for roughly 70 per cent of diagnoses – researchers found strong genetic indicators of tumour aggressiveness.
Major structural DNA changes, APOBEC mutational signatures (a form of DNA damage) and mutations in the cancer gene TP53 were all linked to higher death risk.
These genetic markers proved more predictive than traditional measures such as age, cancer stage or tumour grade.
Using these results, the researchers developed a framework to help clinicians identify which patients need more aggressive treatment and which could safely have less.
Around 7,500 women a year with low-grade tumours could benefit from more intensive therapy.
Professor Matt Brown, chief scientific officer of Genomics England, said: “This promising research further demonstrates the potential of genomics in improving cancer treatment outcomes for many people.
“Rapid advances in genomics are already ushering in the next generation of personalised cancer medicine. Not only can a patient’s genes guide precision treatment decisions that will best serve them, but we could improve how we match people up to clinical trials and help more patients access innovative treatments.
“Research like this highlights the value of the National Genomic Research Library and how understanding our genes can provide a real boost to the way we diagnose and treat disease.
“It’s all thanks to the contribution of participants and NHS partners in the 100,000 Genomes Project – the consented clinical and genomic data opens the door for incredible research opportunities.”
Insight
New pregnancy treatment shows promise for at-risk twins

A high-powered ultrasound treatment could help identical twins affected by a rare and serious condition during early pregnancy, an initial study suggests.
Twin-to-twin transfusion syndrome, or TTTS, causes uneven blood flow between identical twins who share a placenta.
The imbalance can leave one baby dangerously small and the other too large, putting both babies’ survival at risk.
Brioney Garrett’s daughters were in danger before doctors used the world-first treatment to seal the blood vessels causing the problem without an operation.
Nancy and Margo were born healthy and, now aged four, are due to start school.
Researchers from Queen Charlotte’s and Chelsea Hospital tested the non-invasive procedure in 10 women from the UK and elsewhere in Europe after scans detected TTTS during early pregnancy.
Five women needed further treatment, while 12 of the 20 babies survived following the procedure.
The researchers described having a treatment that did not require a needle or telescope to be inserted into the mother’s abdomen as “extremely exciting”.
However, they said larger studies involving more pregnant women were needed before the procedure could be offered more widely.
Garrett described her daughters as “my miracle twins”.
She said: “We were in a very dire situation and I don’t forget that.
“It stays with me always how things could have been. Every day I still count my blessings.”
TTTS affects between 10 and 15 per cent of identical twins who share a placenta, representing around 300 to 400 pregnancies in the UK each year.
The uneven blood flow causes excess fluid to build up around the larger recipient baby, while leaving dangerously little fluid around the smaller donor baby.
Treatment usually involves inserting a needle into the womb to drain some of the fluid or using a laser to seal the connecting blood vessels.
Garrett’s procedure took about 20 minutes. She lay flat while a specially designed machine directed high-powered ultrasound waves at small blood vessels in her placenta.
She said: “It was very quick and pretty painless.”
Christoph Lees, head of fetal medicine at Imperial College Healthcare NHS Trust and professor of obstetrics at Imperial College London, described the research as “very promising”.
He said: “If this could work in a fully-fledged study, it could give hope to a lot of women who otherwise might have to have quite invasive treatment.”
Ultrasound is commonly used during medical scans to produce images of the body, but this procedure uses much more focused waves.
Heat generated by the waves can seal blood vessels about 2mm in diameter and located around 5cm to 6cm beneath the skin.
The procedure blocked blood flow in 90 per cent of the vessels treated during the study, with no unwanted side-effects reported.
Twins Trust, which supported the study, said the approach could make a significant difference for families affected by TTTS.
Helen Peck, head of healthcare engagement and research, said: “Any procedure that is non-invasive and can potentially identify TTTS earlier and improve outcomes for our families with this life-threatening condition could be a turning point.”
Scans carried out weeks after Garrett’s procedure showed that blood flow between the babies had been rebalanced, although other problems developed during the pregnancy.
Garrett said Margo, who had too little fluid around her, “was in a much better position” and that “the strain on Nancy’s heart had eased”.
Nancy and Margo were born at nearly 34 weeks, weighing 3lb 7oz and 3lb 3oz respectively.
Garrett said: “They were both healthy, and Margo wasn’t as small as we worried she was going to be.”
The twins are due to start primary school in September.
Garrett said: “They’re funny, smart, energetic little girls that just fit right in with their age group.”
Insight
Breast cancer rising rapidly in Asian American women, study finds

Breast cancer rates have risen rapidly among Asian American women over the past two decades, with some of the steepest increases among women under 50, new research has revealed.
Rates rose by more than three per cent a year in nearly every Asian American ethnic group studied, much faster than in any other US ethnic group.
The increase was particularly marked among women under 50 and in cases involving advanced-stage disease or certain aggressive subtypes of the cancer.
The study found even larger increases among Chinese and Vietnamese women.
Breast cancer rates among Native Hawaiian women were already among the highest recorded among US women, but rose by about one per cent a year, less than the increases seen in Asian American groups.
The researchers said increased screening was unlikely to explain the trend because screening would be expected to identify more cancers at an earlier stage.
Instead, cancers that had already spread increased at the fastest rate.
Triple-negative breast cancer, considered the most aggressive subtype, rose by more than six per cent a year among Chinese American women between 2017 and 2022.
Scarlett Lin Gomez, senior author and professor of epidemiology and biostatistics at the University of California, San Francisco, said: “These patterns are highly concerning from a disparities standpoint.
“They underscore why it is so important to move beyond treating Asian Americans, Native Hawaiians, and Pacific Islanders as a single population.”
Researchers analysed about 150,000 cases of invasive breast cancer diagnosed between 2000 and 2022 using data from the National Cancer Institute’s Surveillance, Epidemiology, and End Results Programme.
The analysis covered nine Asian American, Native Hawaiian and Pacific Islander populations across 14 states. Together, these states account for about two-thirds of the US population within these groups.
Except for Native Hawaiian women, Asian American women have historically had lower breast cancer rates than non-Hispanic white women.
However, the gap has narrowed rapidly. By 2022, incidence among Asian American women under 50 was comparable with that recorded among white women.
The reasons for the increase among women under 50 remain unclear.
Changes in reproductive patterns, diet and other lifestyle factors may play a part, but researchers said they did not fully explain the findings.
They said previously unidentified risk factors may also be contributing to the rises in some Asian American communities.
Researchers hope two UCSF-based studies, the CRANE breast cancer study and the ASPIRE cohort study, will provide insights into these factors.
Gomez said: “Understanding why breast cancer is increasing so rapidly in these communities is critical.
“At the same time, we need to ensure that women across all Asian American, Native Hawaiian, and Pacific Islander communities have access to culturally appropriate education, screening, and timely follow-up care.”
Insight
Softening ovaries could extend fertility as women age, study suggests

Softening ageing ovaries could help women remain fertile for longer, early animal research suggests.
Fertility declines with age for several reasons, including poorer egg quality, fewer ovarian follicles and the gradual stiffening of ovarian tissue.
Existing fertility treatments, including hormone therapy and in vitro fertilisation, mainly address hormonal imbalances or help eggs mature or become fertilised.
Scientists are now examining whether changing the physical structure of the ovaries could provide another route for future fertility treatments.
Stuart A. Cook, of the Cardiovascular and Metabolic Disorders Programme at Duke-National University of Singapore Medical School, published an accompanying commentary on the research.
Researchers led by Shixuan Wang at Huazhong University of Science and Technology in Wuhan, China, collected healthy ovarian tissue from younger, middle-aged and older women.
They also examined samples from patients with polycystic ovary syndrome, known as PCOS, premature ovarian insufficiency, or POI, and endometriosis.
PCOS is a hormonal condition that can disrupt ovulation. POI occurs when the ovaries stop working normally before the age of 40, while endometriosis causes tissue similar to the womb lining to grow elsewhere in the body.
Tests of protein levels and gene activity found higher levels of the inflammatory protein interleukin-11, or IL-11, in ageing and diseased ovaries.
In laboratory experiments, the researchers exposed ovarian fibroblasts to IL-11. Fibroblasts are cells that produce connective tissue.
The protein caused the cells to produce excess collagen, a structural material that can build up during scarring and make tissue stiffer.
The researchers then genetically modified mice so they could not respond to IL-11. The animals developed less ovarian stiffening and maintained better ovarian function as they aged.
Similar results were seen in mouse models of PCOS and POI caused by chemotherapy.
In the final part of the experiment, older mice and rats were injected with a nanoparticle treatment containing small interfering RNA, or siRNA, designed to switch off IL-11.
The treatment made the animals’ ovaries less stiff and improved fertility.
Pregnancy rates among older mice rose from 25 per cent to 50 per cent, while average litter sizes also increased.
More rats treated with the therapy became pregnant and produced larger litters.
The approach remains highly speculative and will require considerably more research before its safety or effectiveness in women can be established.
However, the researchers said blocking the inflammatory pathway could eventually form the basis of new fertility treatments.
They said: “We propose that anti-IL-11 therapy represents a promising translational strategy for delaying ovarian ageing.”
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