News
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.”
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Ovarian cancer cases rising among younger adults, study finds

Ovarian cancer cases are rising among younger adults in England, with bowel cancer showing a similar pattern, a new study suggests.
Researchers said excess weight is a key contributor, but is unlikely on its own to explain the pattern.
The authors wrote: “These patterns suggest that while similar risk factors across ages are likely, some cancers may have age-specific exposures, susceptibilities, or differences in screening and detection practices.”
They added: “Although overweight and obesity are linked to 10 of the 11 cancers evaluated and account for a substantial proportion of cancer cases, both BMI-attributable and BMI-non-attributable incidence rates have increased, though the latter more slowly, suggesting other contributors.”
The study analysed cancer incidence, meaning new diagnoses, in England between 2001 and 2019 across more than 20 cancer types, comparing adults aged 20 to 49 with those aged 50 and over.
Among younger women, cases of 16 out of 22 cancers increased significantly over the period, while among younger men, 11 out of 21 cancers increased significantly.
In particular, there was a significant rise in 11 cancers with known behavioural risk factors among adults under 50. These were thyroid, multiple myeloma, liver, kidney, gallbladder, bowel, pancreatic, endometrial, mouth, breast and ovarian cancers.
Rates of all 11 also rose significantly among adults aged 50 and over, with the notable exceptions of bowel and ovarian cancer.
Five cancers, endometrial, kidney, pancreatic, multiple myeloma and thyroid cancer, increased significantly faster in younger than in older women, while multiple myeloma increased faster in younger than in older men.
The researchers looked at established risk factors including smoking, alcohol intake, diet, physical inactivity and body mass index, a measure used to assess whether someone is underweight, a healthy weight, overweight or obese.
With the exception of mouth cancer, all 11 cancers were associated with obesity. Six, liver, bowel, mouth, pancreatic, kidney and ovarian, were also linked to smoking.
Four, liver, bowel, mouth and breast, were associated with alcohol intake. Three, bowel, breast and endometrial, were linked to physical inactivity, and one, bowel, was associated with dietary factors.
But apart from excess weight, trends in those risk factors over the past one to two decades were stable or improving among younger adults.
That suggests other factors may also play a part, including reproductive history, early-life or prenatal exposures, and changes in diagnosis and detection.
The study noted that red meat consumption fell among younger adults, while fibre intake remained stable or slightly improved in both sexes between 2009 and 2019, although more than 90 per cent of younger adults were still not eating enough fibre in 2018.
Established behavioural risk factors accounted for a substantial share of cancer cases.
Excess weight was the risk factor associated with most cancers in 2019, ranging from 5 per cent for ovarian cancer to 37 per cent for endometrial cancer.
The researchers said the findings were based on observational data, meaning the study could identify patterns but could not prove cause and effect.
They also noted there were no consistent long-term national data for several risk factors, that the analysis was limited to England rather than the UK, and that cancer remains far more common overall in older adults despite the rise in cases among younger people.
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