Tag: breast cancer

Categories : CancerTags :

When Should Preventive Mastectomy be Offered in High Breast Cancer Risk?

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Photo by National Cancer Institute on Unsplash

More women at higher risk of breast cancer should be offered a mastectomy, according to researchers at Queen Mary and London School of Hygiene and Tropical Medicine.

A new analysis, published in JAMA Oncology, has found that the surgical technique was a cost-effective way of reducing the likelihood of developing breast cancer compared to breast screening and medication. Current guidelines on who is offered mastectomy may need to be revised to reflect these new findings. 

Clinicians currently use personalised risk prediction models which combine genetic and other data to identify those women who are at a higher risk of developing breast cancer (BC). Subsequent treatment options – including mammograms, MRI screening, surgery, and medication – are then offered dependent on each woman’s level of risk. 

Risk reducing mastectomy (RRM) is recommended for women at high risk, but in practice this surgery is only clinically offered to those carrying faults (called pathogenic variants) in genes that are known to increase the likelihood they will develop the disease (BRCA1/ BRCA2/ PALB2 PV). 

Professor Ranjit Manchanda from Queen Mary University of London, Dr Rosa Legood from London School of Hygiene and Tropical Medicine, along with colleagues from Manchester University and Peking University created a new economic evaluation model to accurately predict the level of risk that would make RRM a more cost-effective treatment. 

For their model, researchers used guidelines from the National Institute for Health and Care Excellence (NICE) to determine whether a treatment is considered cost-effective. Their model showed that mastectomy was a cost-effective treatment for women aged 30 or above who have a lifetime breast cancer risk greater than or equal to 35%. Offering RRM to women in this cohort could potentially prevent 6,500 of the 58,500 cases of breast cancer that are diagnosed every year in the UK. 

Professor Manchanda, Professor of Gynaecological Oncology at Queen Mary and  Consultant Gynaecological Oncologist, said: “We for the first time define the risk at which we should offer RRM. Our results could have significant clinical implications to expand access to mastectomy beyond those patients with known genetic susceptibility in high penetrance genes- BRCA1/ BRCA2/ PALB2 – who are traditionally offered this. This could potentially prevent can potentially prevent ~6500 breast cancer cases annually in UK women. We recommend that more research is carried out to evaluate the acceptability, uptake, and long-term outcomes of RRM among this group”.. 

Dr Legood, Associate Professor in health economics at the London School of Hygiene & Tropical Medicine, said: “Undergoing RRM is cost-effective for women 30-55 years with a lifetime breast cancer risk of 35% or more. These results can support additional management options for personalized breast cancer risk prediction enabling more women at increased risk to access prevention.”  

Dr Vineeth Rajkumar, Head of Research at Rosetrees, said: “Rosetrees is delighted to fund this truly groundbreaking research that could have a positive impact on women worldwide.” 

The researchers used data from women aged between 30 and 60 with varying lifetime breast cancer risks between 17% and 50%, and who were either undergoing RRM or receiving screening with medical prevention according to currently used predictive models. 

NICE deems a treatment cost-effective if it typically brings one additional year of health for no more than £20 000–£30 000 per patient (known as the ‘willingness to pay’ threshold, or WTP). The researchers’ model used a threshold of £30 000/Quality Adjusted Life Year. 

Source: Queen Mary University London

Categories : CancerTags :

Less Is More: Low-Dose Olanzapine Curbs Chemo-Induced Nausea Without the Sedation

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A recent clinical trial demonstrates 5mg olanzapine’s safety and efficacy for chemotherapy-induced nausea and vomiting

Researchers from Japan found that a 5mg dose of olanzapine, taken after chemotherapy, significantly reduces nausea and vomiting in breast cancer patients, while minimising sedation and cutting costs. This patient-centred approach could reshape global standards for antiemetic care. Credit: Prof Mitsue Saito from Juntendo University, Japan

Chemotherapy-induced nausea and vomiting can severely impact patients’ quality of life and treatment adherence. In a major clinical trial, researchers from Japan tested whether a low, 5mg dose of olanzapine taken at home after chemotherapy could reduce these side effects without causing heavy sedation. The study found that this approach significantly improved outcomes compared to placebo, offering a safer, more affordable strategy that could reshape supportive cancer care, especially in outpatient and resource-limited settings.

Chemotherapy-induced nausea and vomiting are among the most distressing side effects of anti-cancer treatment, particularly for those receiving highly emetogenic regimens such as anthracycline plus cyclophosphamide combinations. This major side effect compromises a patient’s quality of life and willingness to continue therapy. Therefore, there is a crucial need to devise an effective antiemetic management approach for optimizing cancer care and patient well-being.

Against this backdrop, a new study, led by Professor Mitsue Saito and Dr. Hirotoshi Iihara from Japan, was made available online on June 17, 2025, and published in Volume 26, Issue 7 of the journal The Lancet Oncology on July 1, 2025, examined whether a 5mg dose of olanzapine taken at home after chemotherapy could reduce nausea and vomiting in patients with breast cancer while minimising the sedative effects associated with the standard 10mg dose.

“While multiple studies have examined 10mg of olanzapine and confirmed its effectiveness for nausea control, at this dose it often causes sedation, raising safety concerns,” explains lead author Prof Saito. “Beyond the commonly observed sedation, olanzapine at the 10 mg dose can cause serious adverse effects, including sedative effects such as daytime sleepiness and loss of consciousness.”

“The study was inspired in part by three patients with breast cancer who attended an antiemetic guideline meeting at MASCC 2015 in Copenhagen. They spoke about the burdensome sedative side effects of olanzapine, a concern that helped shape the trial’s patient-centred design,” says Prof Saito.

This phase 3, double-blind, placebo-controlled trial enrolled 500 female patients with breast cancer in Japan receiving outpatient anthracycline plus cyclophosphamide-based chemotherapy. Participants were randomly assigned to receive either olanzapine 5mg or placebo in combination with standard triplet antiemetic therapy (palonosetron, dexamethasone, and an NK-1 receptor antagonist). The olanzapine 5mg was taken at home after chemotherapy to help avoid sedation during hospital travel or treatment.

“This study uniquely investigates the timing of olanzapine 5mg administration, given within 5 hours post-chemotherapy administration and before the evening meal, to reduce sedation during hospital visits and transportation. This approach takes into account the onset of nausea and vomiting reported in previous studies. Among highly emetogenic chemotherapies, there is a significant difference between cisplatin, which usually requires hospitalisation for treatment, and other chemotherapies such as anthracycline-based regimens that are typically administered on an outpatient basis,” says Dr Iihara. The primary endpoint of the study was to investigate the proportion of patients achieving complete response, defined as no vomiting and no rescue medication use during the overall phase (0–120 hours post-anthracycline plus cyclophosphamide initiation).

The results demonstrated significant improvement, with 58.1% of patients in the olanzapine 5mg group achieving a complete response during the first 5 days after chemotherapy, compared to only 35.5% in the placebo group. Benefits also extended to delayed nausea and vomiting across a 7-day observation period.

While some patients reported drowsiness, the incidence of severe or very severe concentration impairment was low, occurring in 10% of patients in the olanzapine 5mg group vs 14% in the placebo group. Additionally, no major adverse events were observed in either group, indicating that there were no treatment-related deaths in either group.

The olanzapine 5mg dose offers an important financial and clinical advantage over the commonly used 10mg. By reducing side effects and cost, this strategy may make antiemetic treatment more accessible, particularly in lower-resource settings.

These new findings suggest that an olanzapine 5mg regimen, especially when administered after chemotherapy, can be just as effective, with fewer side effects. Although the study focused on Japanese women with breast cancer, the results are expected to influence international practices and future guideline updates.

In addressing both physical and financial toxicity and putting patients’ voices at the centre of the research, this trial represents more than a treatment tweak. It’s a step toward more humane, equitable cancer care.

Source: Juntendo University

Categories : Cancer GeneticsTags :

Women of African Ancestry May Be Biologically Predisposed to Early-onset or Aggressive Breast Cancers

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Photo by National Cancer Institute

While the incidence of breast cancer is highest for white women, Black women are more likely to have early-onset or more aggressive subtypes of breast cancer, such as triple-negative breast cancer. Among women under 50, the disparity is even greater: young Black women have double the mortality rate of young white women.

Now, research from the University of Notre Dame is shedding light on biological factors that may play a role in this disparity. The study published in iScience found that a population of cells in breast tissues, dubbed PZP cells, send cues that prompt behavioural changes that could promote breast cancer growth.

Funded by the National Cancer Institute at the National Institutes of Health, the study set out to explore what biological differences in breast tissue could be related to early onset or aggressive breast cancers. Most breast cancers are carcinomas, or a type of cancer that develops from epithelial cells. In healthy tissue, epithelial cells form linings in the body and typically have strong adhesive properties and do not move.

The researchers focused on PZP cells as previous studies had shown that these cells are naturally and significantly higher in healthy breast tissues of women of African ancestry than in healthy breast tissues of women of European ancestry. While PZP cell levels are known to be elevated in breast cancer patients in general, their higher numbers in healthy, African ancestry tissues could hold clues to why early-onset or aggressive breast cancers are more likely to occur in Black women.

“The disparity in breast cancer mortality rates, particularly among women of African descent, is multifaceted. While socioeconomic factors and delayed diagnosis may be contributing factors, substantial emerging evidence suggests that biological and genetic differences between racial groups can also play a role,” said Crislyn D’Souza-Schorey, the Morris Pollard Professor of Biological Sciences at Notre Dame and corresponding author of the study.

The study showed how PZP cells produce factors that activate epithelial cells to become invasive, where they detach from their primary site and invade the surrounding tissue.

For example, a particular biological signaling protein known as AKT is often overactive in breast cancers. This study showed that PZP cells can activate the AKT protein in breast epithelial cells, which in part allows them to invade the surrounding environment. PZP cells also secrete and deposit certain proteins outside the cell that guide the movement of breast epithelial cells as they invade.

Overall, the results of the study emphasize multiple mechanisms by which PZP cells may influence the early stages of breast cancer progression and their potential contribution to disease burden.

The researchers also looked at how a targeted breast cancer drug, capivasertib, which inhibits the AKT protein, impacted PZP cells and found it markedly reduced the effects of the PZP cells on breast epithelial cells.

“It’s important to understand the biological and genetic differences within normal tissue as well as tumours among racial groups, as these variations could potentially influence treatment options and survival rates. And consequently, in planning biomarker studies, cancer screenings or clinical trials, inclusivity is important,” said D’Souza-Schorey, also an affiliate of Notre Dame’s Berthiaume Institute for Precision Health and Harper Cancer Research Institute.

Source: University of Notre Dame

Categories : Cancer Obstetrics & GynaecologyTags :

Breastfeeding’s Protective Effect Against Breast Cancer Explained by Metabolism

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Study shows a mother’s mitochondria determine if lactation is protective or not against breast cancer—and points to a possible intervention to increase the benefit to more women

Photo by Wendy Wei

Breastfeeding is often linked with better health for both mothers and babies, but it does not protect all women against breast cancer. The reason remains unknown. Since breast cancer in young women is on the rise, understanding why breastfeeding is protective in some women but not others is critical. 

A new study, led by a team of researchers from The Tisch Cancer Institute at the Icahn School of Medicine at Mount Sinai and published in the journal Nature Communications, addressed this question. 

The study was performed in mice, which exhibit a similar phenomenon: lactation strongly protects some mice against breast cancer, but others are more susceptible. The researchers studied female mice that had the same basic DNA but different types of mitochondria. The team found that the way the body responds to breastfeeding could change depending on the mother’s mitochondria.  

In mice with specific types of mitochondria, the researchers found, lactation allowed a certain group of cells similar to those found in postpartum breast cancer in humans to expand and grow, explains Edmund Jenkins, PhD, Assistant Professor of Medicine (Hematology and Medical Oncology) at the Icahn School of Medicine at Mount Sinai. Dr Jenkins served as the bioinformatics expert on the study. 

“We’ve always thought that breastfeeding is good for all women when it comes to lowering breast cancer risk,” said senior author Doris Germain, PhD, Professor of Medicine (Hematology and Medical Oncology) at the Icahn School of Medicine at Mount Sinai. “But our study shows that it really depends on a woman’s metabolism and how her body responds to lactation at the cellular level.” 

The researchers also discovered that they could change the way the body reacts during breastfeeding by using a natural dietary supplement. In the mice that were at higher risk of developing postpartum breast cancer, this treatment switched their response from harmful to protective. This finding opens the door to a possible way to help more women benefit from breastfeeding by supporting their bodies in the right way.  

“Our research raises the possibility that one day, doctors might be able to identify women whose breastfeeding response puts them at risk and then offer them a simple, natural dietary intervention to change that,” said first author Mrittika Chattopadhyay, PhD, Assistant Professor of Medicine (Hematology and Medical Oncology) at the Icahn School of Medicine at Mount Sinai. 

The team is now studying human breast milk with the goal of identifying milk metabolites that can show whether a woman’s body is reacting to breastfeeding in a way that is helpful or harmful. They also plan to develop a study in humans. One question then will be whether, because this dietary supplement may impact the development of the child, it should be tested only in mothers after they have stopped giving milk to their newborns.  

Source: Mount Sinai

Categories : CancerTags :

FDA-Approved Drug Halts EBV-Driven Lymphoma by Disrupting a Key Cancer Pathway

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Swollen lymph nodes. Credit: Scientific Animations CC0

Scientists at The Wistar Institute have discovered that a class of FDA-approved cancer drugs known as PARP1 inhibitors can effectively combat Epstein-Barr virus (EBV)-driven lymphomas. The findings, published in the Journal of Medical Virology, demonstrate that these drugs, which work by blocking the activity of the PARP1 enzyme, can halt tumour growth by interfering with the EBV’s ability to activate key cancer-promoting genes.

“We’ve uncovered a completely different mechanism for how PARP inhibitors work in EBV-positive cancers,” said Italo Tempera, PhD, associate professor at Wistar’s Ellen and Ronald Caplan Cancer Center and senior author of the study. “Instead of preventing DNA damage from repairing itself in the tumours, like these drugs do in other cancers, they essentially cut off the virus’s ability to hijack cellular machinery to drive cancer growth. This opens up exciting possibilities for repurposing existing FDA-approved drugs to treat EBV-associated cancers.”

EBV infects over 90% of the global population. While most people with the virus remain symptom-free, immunocompromised individuals such as people with HIV and transplant recipients have an increased risk of EBV causing several types of cancer, including various lymphomas and carcinomas. Despite the virus’s clear role in driving these malignancies, no specific therapies currently target EBV-driven cancer.

In search of such a therapy, Tempera and his research team focused on PARP1, a cellular protein that is known primarily for its role in DNA repair. In cancer treatment, PARP inhibitors typically work by preventing cancer cells from repairing their DNA, causing them to die. However, Tempera’s team had previously discovered that PARP1 plays a very different role in EBV infection: It helps control which genes are accessible and active, essentially acting as a master regulator of gene expression.

“Think of PARP1 as a key that opens up DNA to make certain genes readable,” explained Tempera. “EBV uses this key to unlock cancer-promoting genes. When we block PARP1, we’re essentially taking away the key so the virus can’t get in and use our DNA for its own purposes.”

Using a mouse model of EBV-driven lymphoma, the researchers treated the animals with BMN 673 (talazoparib/talzenna), a PARP inhibitor that has already been approved for breast cancer treatment. Compared to controls, the treated mice showed an 80% reduction in tumour growth, and the cancer’s ability to spread to other organs was significantly reduced. Further, when the team analysed the tumours, they found no increase in DNA damage in the treated animals – the hallmark of how PARP inhibitors typically work. Instead, they discovered that PARP1 inhibition disrupted a critical partnership between the viral protein EBNA2 and the cellular oncogene MYC.

“EBNA2 is like the conductor of an orchestra, directing cellular genes to play a cancer symphony,” said Tempera. “It specifically turns on MYC, which is one of the most important cancer-promoting genes. When we inhibit PARP1, EBNA2 can’t effectively activate MYC anymore, and the whole cancer program falls apart.”

The findings have significant therapeutic implications. Because PARP inhibitors are already FDA-approved and their safety profiles are well established, the path to clinical application could be accelerated compared to developing entirely new drugs.

The research also suggests this approach might work beyond EBV-associated lymphomas. The team is now investigating whether PARP inhibitors could be effective against other EBV-driven cancers, including nasopharyngeal and gastric carcinomas. Additionally, given EBV’s suspected role in autoimmune diseases, the researchers are exploring whether PARP1’s regulation of viral gene expression might contribute to these conditions.

“This work really showcases the power of understanding fundamental viral biology,” said Tempera. “We’re taking insights from basic virology research and translating them into potential therapies. With further development, this approach could provide new hope for patients with EBV-associated cancers who currently have limited treatment options.”

Source: Wistar Institute

Categories : CancerTags :

Celebrate Christmas in July with PinkDrive

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Cold Nights, Warm Hearts, Festive Vibes – and Support for Early Detection

Think log fires, festive cheer, a three-course dinner and dancing to a live band – all wrapped up in the joy of giving. On Saturday, 5th July 2025, PinkDrive will host a Christmas in July dinner at the Indaba Hotel in Johannesburg, a night of holiday cheer and hope in action: raising funds for a life-changing cause. And you’re invited.

PinkDrive is a non-profit (NPC) committed to prolonging lives through the early detection of gender-related cancers. It delivers essential health services to thousands of South Africans every year by bringing mobile mammography units directly to communities that need them most, from rural villages to peri-urban areas across the nine provinces. These trucks provide clinical breast exams, mammograms, pap smears, and PSA testing, helping to detect cancer early in areas where healthcare access is often limited or unavailable.

Like many non-profits, PinkDrive depends on the support of corporate partners, sponsors, government, and the public to sustain its vital work, among them, Lee-Chem Laboratories. “This is a cause that is close to our hearts,” says Bhavna Sanker, Marketing Manager at Lee-Chem Laboratories. “Each year, we proudly support PinkDrive through our Mandy’s brand sponsorship, focusing on spreading awareness, sharing survivor stories, and making sure people understand their healthcare options.”

As part of their continued support, every guest at the Christmas in July function will receive a goodie bag from Lee-Chem, filled with products from their Mandy’s brand. “We are truly honoured to have Lee-Chem and the Mandy’s brand as valued sponsors of our Christmas in July Dinner fundraiser,” comments Nelius du Preez, Operations Manager at PinkDrive NPC. “Their continued support, alongside our other generous sponsors, makes events like this possible and helps us not only raise vital funds but also amplify the message of early detection and health education across South Africa.”

The fundraiser will spotlight the resilience of breast cancer survivors, with Deputy Minister of Electricity and Energy, Samantha Graham-Maré, sharing her personal journey with cancer. PinkDrive CEO and Founder, Noelene Kotschan, a passionate advocate for early detection prolonging  lives, will also address guests, and your charming host for the evening? A dashing Mister Global SA finalist will take the mic as MC, steering the evening from heartfelt reflections to lively fundraising with raffles and auctions featuring holiday packages, original artworks, and other exclusive prizes.

“We call the event ‘a night of giving back’ because it is occasions like these that allow us to keep our mobile health units on the road, reaching men and women who might otherwise not have access to screening services,” says du Preez. “Together with compassionate partners like Lee-Chem, we are driving change and prolonging lives, one screening at a time. And we are grateful to every corporate and individual who supports the event by purchasing tickets,” he adds.

All proceeds from the evening will be ringfenced to build and operate a new mobile mammography unit, expanding PinkDrive’s reach to screen more South Africans and detect cancer early, when treatment is most effective. “We encourage the public to join us in this mission by purchasing tickets and supporting the evening’s fundraising efforts,” concludes Sanker.

Tickets for the Christmas in July dinner are R600 per person and available now at pinkdrive.org. Don’t miss this chance to dress up, give back, and help bring hope where it’s needed most.

Categories : Cancer Neurodegenerative DiseasesTags :

Breast Cancer Treatment Linked to a Reduction in Alzheimer’s Disease Risk

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Photo by National Cancer Institute on Unsplash

A Korean population-based cohort study investigated the risk of Alzheimer’s disease (AD) among breast cancer survivors compared to age-matched controls without cancer. The study, published in JAMA Network Open, found that breast cancer survivors had an 8% lower risk of AD than controls, with a significant association in survivors over 65 years old – though the effect did not persist past five years. Radiotherapy was associated with a lower risk of AD among breast cancer survivors – but not other treatments.

Breast cancer survivors may experience long-term health consequences, including cognitive function and risk of dementia. The risk of AD among breast cancer survivors is still unclear and may vary depending on age at diagnosis, treatment received, and time since treatment.

Previous studies reported mixed results on the risk of AD among breast cancer survivors, with some finding no increase in risk and others finding a 35% increased risk for those diagnosed at age 65 or older. These studies have been hampered by a number of methodological issues, including not accounting for risk factors.

Cytotoxic chemotherapy can cause cognitive decline termed ‘chemobrain’. Other chemotherapy drugs such as anthracycline may reduced AD risk by reducing the formation of amyloid deposits. Endocrine therapy may increase the risk of dementia by lowering oestrogen, but studies suggest that the use of tamoxifen and aromatase inhibitors is associated with a lower risk of AD. An increase in dementia is seen in radiotherapy for head and neck cancers.

To investigate the risk of AD among breast cancer survivors, researchers used the Korean National Health Insurance Service (K-NHIS) database, exploring whether there is an association with cancer treatment and various confounding factors.

Among 70 701 breast cancer survivors (mean age, 53.1 years), 1229 cases of AD were detected, with an incidence rate of 2.45 per 1000 person-years. Survivors exhibited a slightly lower risk of AD compared with cancer-free controls, especially among individuals 65 years or older (SHR, 0.92; 95% CI, 0.85-0.99). But landmark analyses found that this lower risk did not persist beyond five years of survival. Radiotherapy was associated with reduced risk of AD among survivors, while chemotherapy and endocrine therapy had no significant impact. Anthracycline use, however, did show a non-significant decrease in risk.

Differences in doses and timing of radiotherapy may influence the effects. The incident exposure to the brain is estimated to be 0.2Gy from a breast cancer radiotherapy dose of 50Gy. A pilot study found that patients with AD who received low-dose whole-brain radiotherapy at 3Gy showed a temporary improvement in cognitive function. This improvement is believed to be due to a neuroprotective effect on microglia. Other studies have noted a transient risk reduction for AD in breast cancer radiotherapy; however, patients receiving radiotherapy usually do so in conjunction with breast-conserving surgery – those opting for this procedure are younger, with fewer comorbidities and smaller tumours.

The study suggests that cancer treatment may have benefits against AD development, but the risk of AD may differ depending on the duration of survival.

The findings indicate that breast cancer treatment may not directly lead to AD, and that managing modifiable risk factors for AD, such as smoking and diabetes, is a feasible option to lower AD risk among breast cancer survivors.

Categories : CancerTags :

South African Study Identifies Two New Breast Cancer Genes in Black Women

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Genetic factors contribute to some 30% of breast cancer cases in SA, necessitating investment in genomic research in African contexts.

Photo by National Cancer Institute

A seminal genetic study published in Nature Communications has discovered two genetic variants linked to breast cancer in black South African women, deepening knowledge about the genetic basis for this disease in African populations.

The genome-wide association study (GWAS) of breast cancer is the first to have been done in African women living on the continent.

A GWAS is a powerful research method that scans the entire DNA of many people to find genetic differences associated with a specific disease or trait.

In this case, the scientists at the Sydney Brenner Institute for Molecular Bioscience (SBIMB) scanned for breast cancer and found consistent genetic patterns in black South African women.

The SBIMB researchers discovered genetic signals around the gene RAB27A, a member of the RAS oncogene family, and USP22, a gene which is highly active in breast cancer cells and associated with a poor health prognosis.

“These genes have not been associated with the disease before, which is an important advance in understanding breast cancer risk and biology in women of African ancestry,” says Dr Mahtaab Hayat, the lead author of the study.

The two new genetic variants were identified in black South African women with breast cancer enrolled in the Johannesburg Cancer Study, compared to women without cancer in the Africa Wits-INDEPTH Partnership for Genomic Research (AWI-Gen) study.

Until now, most breast cancer genetics research has focused on European and Asian populations, with studies of African ancestry limited primarily to African- American women, who largely descend from West African populations.

A tool that estimates lifetime cancer risk based on DNA, the polygenic risk score (PRS), performed poorly in distinguishing South African women with breast cancer from those without.

“This is because most PRSs were developed in European populations, and their inaccuracy in African populations highlights the urgent need for ancestry-specific tools in cancer risk prediction,” says Dr Jean-Tristan Brandenburg, also in the SBIMB and a lead author.

Breast cancer is the second most common cancer in South Africa and the most common cancer in women globally, with genetic factors contributing to about 30% of cases. “Our study makes a compelling case for investing in genomic research rooted in African contexts,” notes Hayat.

The potential for precision medicine

If further studies confirm these findings, the USP22 and RAB27A genes could be specific targets for new drugs. “We could potentially target harmful cancer cells while sparing healthy tissue, which is ideally what we want when administering cancer treatment,” says Distinguished Professor at the SBIMB, Chris Mathew, and a lead project investigator.

Furthermore, if a specific gene is associated with poorer survival, it can be used as a biomarker to identify more aggressive cancers and help predict which patients may need more intensive treatment and monitoring.

Understanding the genetic architecture of complex diseases helps scientists figure out the biological processes leading to these conditions and find drug targets and treatments for groups of individuals with similar disease risk profiles.

Genomic diversity in Africa is unparalleled

African populations have more genetic variation than any other population in the world, but they have been significantly underrepresented in genomic research. This means that the global understanding of disease risk, and the tools and treatment developed from it, is limited.

“The study reveals that more people can benefit from genetic discoveries. It proves that new risk factors are still out there, waiting to be found,” says Hayat.

Source: University of the Witwatersrand

Categories : Cancer Obstetrics & GynaecologyTags :

Removing Ovaries and Fallopian Tubes Linked to Lower Risk of Early Death Among Certain Breast Cancer Patients

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Photo by National Cancer Institute on Unsplash

Women diagnosed with breast cancer who carry particular BRCA1 and BRCA2 genetic variants are offered surgery to remove the ovaries and fallopian tubes as this dramatically reduces their risk of ovarian cancer. Now, Cambridge researchers have shown that this procedure – known as bilateral salpingo-oophorectomy (BSO) – is associated with a substantial reduction in the risk of early death among these women, without any serious side-effects.

Women with certain variants of the genes BRCA1 and BRCA2 have a high risk of developing ovarian and breast cancer. These women are recommended to have their ovaries and fallopian tubes removed at a relatively early age – between the ages 35 and 40 years for BRCA1 carriers, and between the ages 40 and 45 for BRCA2 carriers.

Previously, BSO has been shown to lead to an 80% reduction in the risk of developing ovarian cancer among these women, but there is concern that there may be unintended consequences as a result of the body’s main source of oestrogen being removed, which brings on early menopause. This can be especially challenging for BRCA1 and BRCA2 carriers with a history of breast cancer, as they may not typically receive hormone replacement therapy to manage symptoms. The overall impact of BSO in BRCA1 and BRCA2 carriers with a prior history of breast cancer remains uncertain. 

Ordinarily, researchers would assess the benefits and risks associated with BSO through randomised controlled trials, the ‘gold standard’ for testing how well treatments work. However, to do so in women who carry the BRCA1 and BRCA2 variants would be unethical as it would put them at substantially greater risk of developing ovarian cancer.

To work around this problem, a team at the University of Cambridge, in collaboration with the National Disease Registration Service (NDRS) in NHS England, turned to electronic health records and data from NHS genetic testing laboratories collected and curated by NDRS to examine the long-term outcomes of BSO among BRCA1 and BRCA2 PV carriers diagnosed with breast cancer. The results of their study, the first large-scale study of its kind, are published today in The Lancet Oncology.

The team identified a total of 3400 women carrying one of the BRCA1 and BRCA2 cancer-causing variants (around 1700 women for each variant). Around 850 of the BRCA1 carriers and 1,000 of the BRCA2 carriers had undergone BSO surgery.

Women who underwent BSO were around half as likely to die from cancer or any other cause over the follow-up period (a median follow-up time of 5.5 years). This reduction was more pronounced in BRCA2 carriers compared to BRCA1 carriers (a 56% reduction compared to 38% respectively). These women were also at around a 40% lower risk of developing a second cancer.

Although the team say it is impossible to say with 100% certainty that BSO causes this reduction in risk, they argue that the evidence points strongly towards this conclusion.

Importantly, the researchers found no link between BSO and increased risk of other long-term outcomes such as heart disease and stroke, or with depression. This is in contrast to previous studies that found evidence in the general population of an association between BSO and increased risk of these conditions.

First author Hend Hassan, a PhD student at the Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, and Wolfson College, Cambridge, said: “We know that removing the ovaries and fallopian tubes dramatically reduces the risk of ovarian cancer, but there’s been a question mark over the potential unintended consequences that might arise from the sudden onset of menopause that this causes.

“Reassuringly, our research has shown that for women with a personal history of breast cancer, this procedure brings clear benefits in terms of survival and a lower risk of other cancers without the adverse side effects such as heart conditions or depression.”

Most women undergoing BSO were white. Black and Asian women were around half as likely to have BSO compared to white women. Women who lived in less deprived areas were more likely to have BSO compared to those in the most-deprived category.

Hassan added: “Given the clear benefits that this procedure provides for at-risk women, it’s concerning that some groups of women are less likely to undergo it. We need to understand why this is and encourage uptake among these women.”

Professor Antonis Antoniou, from the Department of Public Health and Primary Care, the study’s senior author, said: “Our findings will be crucial for counselling women with cancer linked to one of the BRCA1 and BRCA2 variants, allowing them to make informed decisions about whether or not to opt for this operation.”

Professor Antoniou, who is also Director of the Cancer Data-Driven Detection programme, added: “The study also highlights the power of exceptional NHS datasets in driving impactful, clinically relevant research.”

The research was funded by Cancer Research UK, with additional support from the National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre.

The University of Cambridge is fundraising for a new hospital that will transform how we diagnose and treat cancer. Cambridge Cancer Research Hospital, a partnership with Cambridge University Hospitals NHS Foundation Trust, will treat patients across the East of England, but the research that takes place there promises to change the lives of cancer patients across the UK and beyond. Find out more here.

Reference

Hassan, H et al. Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of breast cancer: a retrospective cohort study using linked electronic health records. Lancet Oncology; 7 May 2025; DOI: 10.1016/S1470-2045(25)00156-1

The original text of this story is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Read the original article.

Categories : CancerTags :

Three out of Ten Breast Cancers are Detected Between Screenings

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Photo by National Cancer Institute

In a new study, researchers from Karolinska Institutet have shown that so-called interval cancers, which are detected between two screening sessions, account for a significant proportion of breast cancer cases and that certain risk factors may increase the likelihood of developing this type of cancer. The study was published in the journal JAMA Oncology.

Mammography screening has been shown to be effective in reducing breast cancer mortality by detecting cancer at an early stage. Despite this, some cancers are not diagnosed during screening but between screening rounds, known as interval cancers. This type of cancer can be more aggressive and difficult to treat than breast cancer detected during a scheduled screening.

The study, which covers half a million women in Stockholm between 1989 and 2020, shows that interval cancer accounts for a significant proportion of all breast cancer cases.

“We found that interval cancers account for about 30 per cent of all breast cancers detected by screening and this percentage has remained constant over three decades, despite advances in screening technology,” says Yuqi Zhang, postdoctoral fellow at the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet and lead author of the study.

The researchers identified several factors that increase the risk of developing interval cancer. These factors include high breast density, hormone therapy, higher education level and older age at first childbirth.

“Women with high breast density and use of hormone therapy are at increased risk of being missed at screening due to false negative results,” says Yuqi Zhang.

Rapid growth of tumour

In addition, the study showed that women with a family history of breast cancer, especially interval cancer, are at a higher risk of developing interval cancer themselves. Women with a family history of breast cancer were 1.9 times more likely to develop interval cancer, and this risk increased to 2.9 times if they had a family history of interval cancer specifically.

“This is often due to the rapid growth of tumours between screening rounds rather than missed detections. The study therefore emphasises the need for more frequent or improved screening methods specifically designed for women with these particular risk factors,” says Yuqi Zhang. 

“Adapting screening protocols to reflect individual risk profiles – whether through more frequent mammography, supplemental imaging like contrast-enhanced mammography, or incorporating genetic testing – could significantly improve early detection rates,” says last author Professor Kamila Czene at the same department. 

“By identifying cancers earlier, we can offer more effective and less invasive treatments, improve long-term survival outcomes, and reduce the emotional and physical toll on patients.”

Source: Karolinska Institutet