Mayo Clinic will enhance and expand access to cancer care and clinical trials for patients and communities, thanks to a generous philanthropic commitment from Stephen M. and Barbara J. Slaggie of Marco Island, Florida, and Winona, Minnesota.

The Slaggies' $50 million investment accelerates Mayo Clinic's Bold. Forward. strategy to Cure, Connect and Transform healthcare by supporting Mayo Clinic Comprehensive Cancer Center in revolutionizing the delivery of cancer care. Mayo Clinic is leading this shift by developing the optimal blend of in-facility, digital and home-based care to reach more patients beyond traditional care delivery methods.

Already, through the creation of innovative programs, including Cancer Care Beyond Walls and Clinical Trials Beyond Walls — in collaboration with partners in Mayo Clinic's practice and research endeavors — Mayo Clinic is delivering chemotherapy and clinical trials to patients in their homes and community environments.

"Through our platform-based strategies, Mayo Clinic is enabling the delivery of cancer care and clinical trials broadly to patients and communities across the United States and around the world, overcoming geographic barriers to assure access to quality cancer care and clinical trials to patients anywhere, at any time," says Cheryl Willman, M.D., the Stephen and Barbara Slaggie Executive Director, Mayo Clinic Cancer Programs, and director, Mayo Clinic Comprehensive Cancer Center.

Mayo Clinic is the only National Cancer Institute-Designated Comprehensive Cancer Center with three integrated geographic sites — in Arizona, Florida and Minnesota — achieving national and international recognition for the delivery of advanced and complex cancer care. For over five decades, Mayo Clinic has made important contributions as a leading cancer center because of a focus on patient-centered care, multidisciplinary team science, and translation of cutting-edge research from the bench to the bedside and into communities.

The Slaggies' support for enhanced access to Mayo Clinic knowledge and expertise, cancer care delivery, cancer clinical trials, and community outreach and engagement will enable more patients to access Mayo Clinic's innovative and expert care, no matter where they live. Key activities advanced through this gift include enhancing platform and digital tools to deliver cancer care and trials anywhere, developing community partnerships, and recruiting patient navigators and clinical staff to expand Mayo Clinic's Cancer Care Beyond Walls and Clinical Trials Beyond Walls programs to Mayo Clinic partners.

Making care more accessible inspired the Slaggies.

"Being a cancer survivor, I know firsthand the anxiety of seeking prompt, exceptional care," Stephen Slaggie says. "We're honored to help people with cancer by providing treatment in their home without the time, expense and travel involved in accessing a clinic or hospital."

For example, through its Cancer Care Beyond Walls program, Mayo Clinic has successfully delivered more than 140 chemotherapy infusions in patients' homes and has opened three national clinical trials testing the safety, efficacy and patient satisfaction of this approach.

"Think of what this means for patients who are going through a cancer diagnosis," Dr. Willman says. "Access to cutting-edge therapies from the most trusted name in healthcare, all in the healing environment of your home."

Areas benefiting from the Slaggies' gift include:

Cancer Care Delivery/Cancer Care Beyond Walls

Mayo Clinic is transforming cancer care delivery by blending virtual, in-facility and at-home treatments to meet our patients where they are. By expanding these innovative programs, Mayo Clinic will enhance the patient and family experience and ensure Mayo's high-quality science and care reach all communities.

Mayo Clinic is also extending the Cancer Care Beyond Walls program, which began in Florida, to Mayo Clinic Health System, a community-based rural healthcare delivery system serving 49 communities across Minnesota and Wisconsin; Mayo Clinic in Arizona; partners in the Mayo Clinic Care Network; and, ultimately, healthcare systems around the nation and globe. Cancer Care Beyond Walls is using virtual and digital platforms and allied health teams to deliver cancer treatment, cancer chemotherapy and cancer clinical trials in the home environment, reducing the financial and emotional burden for patients with cancer who may otherwise have to travel long distances for care.

Cancer Clinical Trials/Clinical Trials Beyond Walls

Each year, Mayo Clinic conducts thousands of clinical trials that are pioneering possible cures, yet there remain significant societal, geographic and logistical barriers that prevent some patients from accessing those options. The ability to decentralize clinical trials assures access for patients and communities by overcoming these barriers.

Mayo Clinic is addressing these systemic issues by using new digital tools — developed by its Center for Digital Health, Mayo Clinic Platform and Mayo's research enterprise — to connect more people to clinical trials, testing new means to screen, and prevent and treat cancer and other diseases. In its Clinical Trials Beyond Walls program, Mayo Clinic's research teams and Mayo Clinic Comprehensive Cancer Center have opened nine decentralized clinical trials in community settings and patients' homes.

Community Outreach and Engagement Programs

A significant driver of health disparities and poorer health outcomes in minority and underrepresented groups is the lack of access to care and engagement of underserved populations in clinical trials. In 2022, Mayo Clinic launched the Mayo Clinic Community Research Registry, which partners with faith-based organizations, fraternities, sororities, American Legion posts and others to educate communities about clinical trials and match interested individuals to trials at Mayo Clinic. More than 900 diverse community participants are currently enrolled in the registry.

Mayo Clinic is also seeking to create financial pathways and partnerships that will increase clinical access for patients within its communities. These initiatives will establish patient finance consulting and concierge services at each Mayo Clinic site to help patients navigate medical costs. Mayo Clinic also will look to support additional patient populations through expanded payer contracts.

Articles

Mayo Clinic is set to enhance cancer care and clinical trial access through a $50 million donation from Stephen and Barbara Slaggie. This investment supports Mayo Clinic's strategy to revolutionize cancer care delivery by integrating in-facility, digital, and home-based care. Programs like Cancer Care Beyond Walls and Clinical Trials Beyond Walls are already delivering chemotherapy and trials to patients at home. The initiative aims to overcome geographic barriers, ensuring access to quality care and trials globally, while addressing health disparities through community outreach and engagement programs.

Mayo Clinic will enhance and expand access to cancer care and clinical trials for patients and communities, thanks to a philanthropic commitment.

Mayo Clinic to Expand Access to State-of-the-Art Cancer Care Through Transformational Gift

Mayo Clinic researchers mined the molecular foundations of cancer and uncovered a new reason CAR-T cell therapy fails in some patients. This discovery has fueled new strategies that incorporate antibodies and gene editing to improve the outcome of this breakthrough treatment for patients. This research by Saad Kenderian, MB, ChB, a consultant in Hematology at Mayo Clinic, is published in Nature Communications.

"This is a very exciting discovery that offers new hope of overcoming challenges of CAR-T cell therapy that many cancer patients experience," says Dr. Kenderian, senior author. "We describe for the first time a mechanism causing the resistance and failure of CAR-T cells, which lies within a protein routinely made by the engineered cells. This research puts us on a new path for improving the longevity of CAR-T cell therapy."

CAR-T cell therapy is a regenerative immunotherapy in which a person's T cells are collected from the body and genetically modified in the lab to target proteins on tumors. The engineered T cells are returned to the patient, where they act as a living drug that continually harnesses the power of the immune system to recognize and destroy tumors.

CAR-T cell therapy is an emerging treatment for blood cancers, putting some B-cell lymphomas and leukemias into complete remission. However, this potential game-changing treatment works very well in only about one-third of cancer patients. One of the main drivers of failure is T-cell exhaustion. That condition occurs when CAR-T cells weaken, losing their ability to multiply, target and eliminate cancer cells. T-cell exhaustion causes relapse in many patients within a year of receiving CAR-T cell therapy.

In search of new solutions, Dr. Kenderian's team analyzed pre-infusion CAR-T cells from patients treated with CAR-T cell therapy. They compared data from patients who went into remission to those whose CAR-T cell therapy failed. They also studied how CAR-T cells killed lymphoma, leukemia and multiple myeloma tumors grown in laboratory mice. They compared the results of mice who responded well to CAR-T therapy to those that did not.

The team documented an elevated amount of the protein interleukin-4 (IL-4) in both the human and mice samples of CAR-T cell exhaustion. IL-4 is a protein that regulates inflammation and immunity. In moderation, the IL-4 protein acts as a catalyst that activates the body's immune system against cancer. This study found the supercharged CAR-T cells sometimes make too much IL-4.

"We discovered CAR-T cells make proteins that are not always helpful to patients. Too much of an IL-4 protein overloads cells and can cause cell exhaustion," says Carli Stewart, a PhD student within Mayo Clinic Graduate School of Biomedical Sciences and first author. "This finding prompted us to explore strategies to modify or eliminate the IL-4 protein and study whether that would recharge CAR-T cells and restore their ability to stop cancer." 

The team used clustered regularly interspaced short palindromic repeats (CRISPR) gene-editing technology to explore genetic function and interaction in CAR-T cell therapy. CRISPR was a key tool in singling out the overabundance of the IL-4 protein in dysfunctional CAR-T cells. CRISPR acts as "molecular scissors" to precisely cut and alter a person's genes. In this case, researchers used the high-tech tool to knock out or modify the IL-4 protein causing CAR-T cell dysfunction.

"After applying the CRISPR gene-editing technology to remove the IL-4 protein from the cell, our team documented a significant improvement in the ability of CAR-T cell therapy to recognize and kill cancer," says Dr. Kenderian.

Researchers also tested monoclonal antibodies to block or neutralize the IL-4 protein. They found that it also rejuvenated CAR-T cells and their ability to block cancer.

Additional research is needed to verify the scientific findings of this study. The data in this paper could lay the foundation for the first-in-human clinical trials for Mayo Clinic patients with CAR-T cell exhaustion.

The study was partly funded by Kite, a Gilead company, Mayo Clinic Center for Individualized Medicine, Mayo Clinic Comprehensive Cancer Center, Mayo Clinic Center for Regenerative Biotherapeutics, National Institutes of Health, Department of Defense grant, Minnesota Partnership for Biotechnology and Medical Genomics, and Predolin Foundation. Review the study for a complete list of authors, disclosures and funding.

Mayo Clinic researchers mined the molecular foundations of cancer and uncovered a new reason CAR-T cell therapy fails in some patients.

Using a Molecular Scissors to Improve CAR T-Cell Therapy

Treatment for blood cancers is advancing, giving more options to people living with the disease.

Sikander Ailawadhi, MD, an oncologist and hematologist at Mayo Clinic in Jacksonville, Florida, says that physicians are identifying, monitoring and eliminating disease earlier and more deeply, thanks to targeted drug therapies and novel treatments like CAR-T cell therapy. Dr. Ailawadhi is an expert in blood cancers, particularly myeloma.

Worldwide, cancer is a leading cause of death, accounting for nearly 10 million — nearly 1 in 6 — deaths in 2020, according to the World Health Organization. New cases of blood cancers — leukemia, lymphoma and myeloma — were expected to account for nearly 10% of new cancer cases diagnosed in the U.S. in 2020.

Drug treatments for blood cancers have evolved. In the past, myeloma patients received two drugs in sequence — two after two. Now, they receive four drugs together at once, with more patients going into remission. Some treatments are becoming so effective — even after a stem-cell transplant — that a subset of patients may be able to stop their medications altogether, Dr. Ailawadhi says. Clinical trials studying that approach are underway.

Blood cancer patients have more immunotherapies available, including CAR-T, which uses the body's immune system to fight cancer. CAR-T involves genetically modifying T cells to activate the immune system to find and kill certain cancers. The Food and Drug Administration approved CAR-T for certain types of leukemia, lymphoma and multiple myeloma. The therapy is now in clinical trials as a potential option for breast, brain, pancreatic cancer, sarcoma and rheumatoid disorders such as lupus.

If patients can't receive CAR-T, they may be able to receive a class of drugs called T-cell engagers. Unlike CAR-T, T-cell engagers do not need to be manufactured. Typically, patients receive T-cell engagers on an inpatient basis. However, at Mayo Clinic, the treatment is outpatient, Dr. Ailawadhi says.

"Historically a patient who had cancer for 10 years did not suddenly go into remission and stay in remission," Dr. Ailawadhi says. "Now with these novel options like CAR-T and T-cell engagers, even patients who have had years of cancer are going into remission."

If their cancer eventually returns, patients may be able to receive treatments that were not available when they were originally diagnosed. A few years ago, Dr. Ailawadhi treated a man with myeloma from the U.K. The patient received CAR-T at Mayo Clinic and went into remission, but the disease returned about nine months later. By that time, new clinical trials had become available in the U.K. The patient started care locally and is being monitored by his Mayo team from Florida and London.

"With that time, he was able to get to more options for treatments," Dr. Ailawadhi says.

The sensitivity of diagnostic tests has advanced, allowing oncologists to tell if a patient has achieved a deep response. Tests can detect one cancer cell in 100,000 normal cells. As techniques improve, tests eventually may be able to detect one in 1 million or one in 10 million, Dr. Ailawadhi says. In the future, researchers hope to construct a predictive model that could tell patients how likely they are to achieve a depth of response, get into remission and stop their medications.

Some patients also can receive care at home. A subset of stem-cell transplant patients come to the hospital for three days of treatment, and then transition to care at home, Dr. Ailawadhi says. Medications for managing pain, nausea and other side effects of blood cancers have evolved too. Large centers may offer patients resources for palliative care, pain medicine, interventional radiology, psychology, physical therapy, and physical medicine and rehabilitation.

"It's very important to understand the patient's quality of life before the cancer," Dr. Ailawadhi says. "One of the major goals of treatment is to try to get the patient as close as possible to that again while we work to control the cancer."

As Blood Cancer Treatments Evolve, So Does The Patient Journey

For many doctors and researchers, immunotherapy that uses someone’s own immune system to target and attack cancer cells is the next and best frontier of cancer treatment. Chimeric antigen receptor T-cell therapy, or CAR-T cell therapy, is one type of immunotherapy. Sometimes likened to a “smart drug” or “living drug,” CAR-T cell therapy relies on genetically modified immune cells to recognize and destroy cancer cells. In this expert alert, Richard Vile, PhD, an immunologist and cancer researcher at Mayo Clinic in Rochester, Minnesota, explains how CAR-T cell therapy works, including the benefits, risks and realities of treatment.

Over the last decade, immunotherapy-focused research has expanded, and results point toward promising, less arduous cancer treatments. Some immune system-focused drugs, for example, have shrunk or eliminated tumors — even in people with advanced cancers.

“The holy grail of all cancer therapies throughout the years has been to develop a treatment that targets only cancerous cells and not normal or healthy cells,” Dr. Vile says. “One of the reasons chemotherapy can be so toxic and unpleasant is that it is very rarely highly selective for the cancer cells, and as a result it can harm other cells. CAR-T cell therapy, in theory, only kills cancer cells, which makes the treatment much gentler on the body.”

The U.S. Food and Drug Administration has approved CAR-T cell therapy for several conditions, including different types of B-cell lymphoma, some forms of leukemia and myeloma. Research is underway at Mayo Clinic to explore CAR-T’s potential to treat diseases beyond cancer.

Like all immunotherapy, CAR-T cell therapy harnesses the power of the immune system — in this case, by using and modifying the body’s T cells. As an important part of the immune system, T cells are a type of white blood cell that helps defend the body from infection and are thought to fight cancer.

To prepare these cells for targeted cancer treatment, T cells are collected from the body — typically through blood work — and are genetically treated in a lab. During this process, the T cells are modified to produce special receptors called chimeric antigen receptors (CARs). These CARs change the T cells in two important ways. First, the T cells can “see” certain antigens, called markers, on cancer cells they were previously blind to. Second, the CARs activate the T cell’s ability to kill the cancer cells. In short, Dr. Vile says that CAR-T cell therapy offers the immune system a sort of honing ability on cancer cells that it otherwise wouldn’t have.

From there, millions of these modified T cells are infused back into the bloodstream. In some cases, other cancer treatments, such as low-dose chemotherapy, are used in tandem with CAR-T cell therapy. The process overall is complex and time intensive. The lab process alone can take several weeks to prepare the CAR-T cells, although people don’t need to be in the hospital during this process. It’s also possible that people receiving CAR-T therapy may experience a reaction when the CAR-T cells are reinfused back into the bloodstream. A reaction, if it occurs, may require treatment in a hospital.

CAR-T cell therapy is not yet effective for all types of cancer. Dr. Vile says this type of therapy is most effective for blood cancers, called hematological cancers, where tumors tend to be diffuse in the blood.

“In people, CAR-T cell therapy has been extremely successful for blood cancers, likely because the T cells are circulating in the blood, just like the cancer cells are,” says Dr. Vile. “Challenges remain for treating solid tumors, which grow in a localized place, such as in an organ. These tumor sites have evolved to become extremely hostile to immune cells.”

CAR-T cell therapy has been an effective treatment for some forms of cancer — particularly for hard-to-treat or recurrent cancers. In fact, one study found that 18% of people with relapsing, treatment-unresponsive chronic lymphocytic leukemia (CLL) experienced full remission after a single CAR-T cell therapy treatment. Additionally, CAR-T cell therapy has the potential to keep cancer in remission for many years.

Like most cancer therapies, CAR-T cell therapy comes with side effects, Dr. Vile says. Side effects may include:

Cytokine release syndrome (CRS), a severe immune system reaction that can lead to death.

Noticeable, but often temporary, neurological side effects such as confusion, seizures, and difficulty speaking or walking.

Temporary blood conditions like anemia and low platelet count.

An increased risk of infection, particularly after the first few weeks of treatment.

Scientists are working to develop next-generation methods that will reduce side effects, lower or even eliminate cancer recurrence, and better target treatment-resistant B-cell cancers. Critically, researchers also are focusing on expanding the scope of cancer targets to include a wider number of blood cancers, as well as solid tumors.

“Immunotherapy has really advanced hugely in recent years,” says Dr. Vile. “I believe future CAR-T cell treatment will involve targeting more than a single antigen in cancer cells so that the cancers can’t escape the therapy. Another major advancement would be understanding how we can put CAR-T cells into people so that the cells persist and keep people in remission for long periods of time, potentially for someone’s entire lifetime.”

There may be uses for CAR-T cell therapy aside from cancer treatment. Mayo Clinic researchers are studying whether CAR-T cell therapy may improve treatments for autoimmune diseases as well as reduce the risks of organ rejection in those who receive organ transplants.

For more information visit the Mayo Clinic Comprehensive Cancer Center blog and Mayo Clinic Press.

Richard Vile, PhD, explains how CAR-T cell therapy works, including the benefits, risks and realities of treatment.

Understanding CAR T-Cell Therapy for Cancer: Mayo Clinic Expert Explains How It Works

About 8 to 10 million Americans over age 40 have an overabundance of cloned white blood cells, or lymphocytes, that hamper their immune systems. Although many who have this condition — called monoclonal B-cell lymphocytosis (MBL) — do not experience any symptoms, a new study shows they may have an elevated risk for several health complications, including 

, a form of skin cancer. The findings, by Mayo Clinic researchers, are published in a new 

People with MBL fall along a spectrum that spans from a low amount to a high amount of these dysfunctional lymphocytes. Previous research has shown that MBL is a precursor to a type of blood and bone marrow cancer known as 

 (CLL). People with CLL also have a heightened risk of melanoma.

"Our study is the first to show that people with this pre-cancerous stage of MBL have a 92% elevated risk of developing melanoma. The risk of melanoma is similar to what we see among people with chronic lymphocytic leukemia," says 

The findings suggest that having MBL, even at low levels, can serve as a biological signal, or biomarker, for early detection of melanoma, which is increasing worldwide.

Dr. Slager and her research team have been studying the largest available cohort of individuals — more than 7,000 people screened for MBL through the 

. The researchers have now followed these individuals for about four years and are finding a collection of potentially related diagnoses among those who screened positive for MBL.

In addition to the increased risk of melanoma, the researchers found that people with MBL were also at 

higher risk of cancers originating in the lymphatic system

hospitalizations due to serious infections

"Previously, scientists would equate MBL as just a part of the aging process. What we're seeing, though, is there are clinical consequences to having MBL — contracting serious infections and melanoma are some of them," Dr. Slager says.

Technological advances provide a closer look

Advances in flow cytometry, a high-resolution technology that enables researchers to look at cells in the blood and identify their varied physical characteristics, has helped propel this research. Clinicians and researchers can now identify people with MBL, the precursor to CLL, more easily.

People with CLL have a very high number of these identical circulating lymphocytes: more than 5,000 lymphocytes per microliter. (A microliter is about 1/50th of a drop of blood.) That's compared to a person with MBL, who typically has 1-5 of these circulating lymphocytes per microliter of blood. Through more sensitive flow cytometry, scientists can identify people earlier when their levels are still low.

"The risk of melanoma seems to be the same no matter how many of these cloned lymphocytes are in the blood, suggesting that just having a clonal population of these lymphocytes — meaning, having MBL— increases your risk of getting melanoma," she says.

Patients with CLL are encouraged to get annual skin cancer screenings by a dermatologist and to protect their skin from sun exposure to prevent melanoma.

"Our findings suggest that people with the precursor MBL stage should also be more diligent about following the established guidelines for skin cancer prevention including, for example, use of sunscreen and protective clothing," Dr. Slager says.

One of the questions Dr. Slager's team plans to explore next is whether there is a genetic overlap between MBL, CLL and melanoma. One hypothesis is that inheriting a genetic variant that increases the risk of MBL and CLL may also increase the risk of melanoma.

Another area the researchers are investigating is whether MBL impacts the clinical outcome among people with melanoma, including if having both MBL and melanoma reduces one's overall survival or affects a person's response to therapy.

 for a complete list of authors, disclosures and funding.

About 8 to 10 million Americans over 40 have excess white blood cells, which may increase their risk of melanoma.

Mayo Clinic Study Finds Dysfunctional White Blood Cells Linked to Heightened Melanoma Risk

In a new multicenter international study led by the Mayo Clinic Comprehensive Cancer Center, researchers found that people with the B-cell precursor subtype of acute lymphoblastic leukemia (BCP-ALL), who also lacked a genetic abnormality known as the Philadelphia chromosome and were in remission with no trace of cancer, showed significantly higher survival rates when blinatumomab was added to their chemotherapy treatment. The randomized study results are published this month in the New England Journal of Medicine. 

"These results are encouraging and establish a new standard of treatment for people with BCP-ALL," says Mark Litzow, MD, lead study author and hematologist at the Mayo Clinic Comprehensive Cancer Center. "The addition of blinatumomab to chemotherapy reduced the risk of leukemia recurrence and death by nearly 60%."

Blinatumomab is a type of immunotherapy administered intravenously and brings a normal immune cell called a T cell close to a leukemia cell so it can destroy it. The Food and Drug Administration approved blinatumomab for patients in remission who have traces of cancer, also known as measurable residual disease (MRD)-positive. In this study, blinatumomab was added to see if it could lessen the risk of the ALL coming back and relapsing in a person who had no detection of cancer, also known as MRD-negative, following initial chemotherapy.

The study enrolled 488 participants aged 30 to 70 years with BCP-ALL, and 224 of them were in remission and MRD-negative following the initial course of treatment with chemotherapy. The 224 participants were equally randomized into two arms; the first arm would receive blinatumomab with chemotherapy, and the second arm would receive the standard treatment of chemotherapy alone.

The results showed that 85% of participants treated with blinatumomab and chemotherapy were alive at three years, compared to 68% of those who received chemotherapy alone, which is the standard treatment.

"We plan to build on this study to reduce the amount of chemotherapy people need to receive, ultimately leading to fewer side effects from the treatment and improving overall survival rates," Dr. Litzow says.

This study was conducted by the ECOG-ACRIN Cancer Research Group and funded in part by the National Cancer Institute of the National Institutes of Health. See the full paper for the complete list of funding and authors.

Dr. Litzow has received research funding from Amgen and served on a speaker's bureau for Amgen related to this study.

About Mayo Clinic Comprehensive Cancer Center

Designated as a comprehensive cancer center by the National Cancer Institute, Mayo Clinic Comprehensive Cancer Center is defining new boundaries in possibility, focusing on patient-centered care, developing novel treatments, training future generations of cancer experts and bringing cancer research to communities. At Mayo Clinic Comprehensive Cancer Center, a culture of innovation and collaboration is driving research breakthroughs that are changing approaches to cancer prevention, screening and treatment, and improving the lives of cancer survivors.

Researchers at the Mayo Clinic found that patients with BCP-ALL who lacked the Philadelphia chromosome and were in remission showed higher survival rates with blinatumomab plus chemotherapy. 

New Research Discovers a New Combination of Therapy for People With a Type of Leukemia, Leading Them to Live Longer

Current screening protocols fail to catch a notable number of people carrying genetic mutations associated with hereditary breast and ovarian cancer syndrome and Lynch syndrome, which increase the risk of developing certain cancers. This issue is particularly pronounced among underrepresented minorities.

, published in JCO Precision Oncology, are based on genetic screenings of more than 44,000 study participants from diverse backgrounds.

For this Mayo Clinic Center for Individualized Medicine Tapestry project, researchers sequenced the exomes — the protein-coding regions of genes — because this is where most disease-causing mutations are found. They identified 550 people, or 1.24%, as carriers of the hereditary mutations.

Importantly, half of these people were previously unaware of their hereditary genetic risk and 40% did not meet existing clinical guidelines for genetic testing.

"This study is a wake-up call, showing us that current national guidelines for genetic screenings are missing too many people at high risk of cancer," says lead author 

, a Mayo Clinic gastroenterologist and cancer geneticist at the 

. "Early detection of genetic markers for these conditions can lead to proactive screenings and targeted therapies, potentially saving lives of people and their family members."

Hereditary breast and ovarian cancer syndrome is linked to mutations in the 

 can lead to a 60% lifetime risk of developing breast cancer and a 40% risk of having ovarian cancer, among other cancers. 

 mutations increase the risk of developing breast cancer to 50% and ovarian cancer to 20%, with additional risks for prostate and pancreatic cancers in males.

Lynch syndrome is associated with an 80% lifetime risk of developing 

 and 50% risk of uterine/endometrial cancer. 

The study also showed disparities in how underrepresented minority participants met genetic screening guidelines compared to other groups.

"These results suggest the existing guidelines for genetic testing inadvertently introduce biases that affect who qualifies for testing and who receives coverage through health insurance. This leads to disparities in cancer prevention," Dr Samadder says. "Our results emphasize the importance of expanding genetic screening to identify people at risk for these cancer predisposition syndromes."

Advancing Precision Medicine with Tapestry

Altogether, the Tapestry project has now sequenced the exomes of more than 100,000 patients and is integrating these results into the patients' electronic health records. This not only personalizes patient care but also provides a rich dataset for further genetic research.

The overarching mission of Tapestry is to advance personalized medicine and tailor prevention and treatment strategies for individuals, thereby paving the way for targeted healthcare interventions for all.

 is a nonprofit organization committed to innovation in clinical practice, education and research, and to providing compassion, expertise and answers to everyone who needs healing. Visit the 

Current screening protocols fail to catch a number of people carrying genetic mutations associated with hereditary breast and ovarian cancer syndrome.

Mayo Clinic Study Uncovers Genetic Cancer Risks in 550 Patients

Brain cancer is difficult to treat when it starts growing, and a prevalent type, known as a glioma, has a poor five-year survival rate. In a new study published in Proceedings of the National Academy of Sciences, Mayo Clinic researchers report on a new surgical platform used during surgery that informs critical decision-making about tumor treatment within minutes. Time is of the utmost importance when dealing with aggressive malignant tumors.

The platform uses mass spectrometry to identify a key gene mutation in brain cancer, known as isocitrate dehydrogenase (IDH) mutations, in real time. Mass spectrometry is a sensitive technique used to analyze substances in tissue samples, including those altered in cancer.

The study involved more than 240 small tissue biopsies from patients undergoing asleep and awake brain surgery for suspected glioma at Mayo Clinic between 2021 and 2023, and an additional 137 biopsies from an international collaborator. Neurosurgeons collected biopsy samples from the core of the tumor to identify the mutations, as well as from areas around it, to assess if the tumor had spread.

Each tissue sample was placed on a glass slide steps away from the patients during ongoing surgery. The samples were analyzed through the mass spectrometer, which allowed researchers to rapidly assess — within two minutes — whether an IDH mutation was present.

The researchers say that, in addition to enabling real-time diagnosis, the platform allows surgeons to determine a patient's prognosis and perform tumor resection to improve patient outcomes. In the future, the new platform will help surgeons take advantage of the window of opportunity in the operating room to tailor treatment to the molecular features of a tumor, a more personalized approach to medicine.

Researchers hope new therapies developed to target IDH mutations can be delivered in the operating room at the time of surgery.

"The ability to identify this mutation during brain surgery means that one day in the future we may be able to treat patients with this specific mutation locally before they leave the operating room," says the study's senior author, Alfredo Quiñones-Hinojosa, M.D., dean of research and chair of the Department of Neurosurgery at Mayo Clinic in Florida.

"Therefore, we will be able to bring the fight against cancer to the operating room, before chemotherapy and radiation treatments begin, and before the disease has progressed and invaded further." Dr. Quiñones-Hinojosa is also director of the Brain Tumor Stem Cell Research Laboratory.

In the study, researchers were able to diagnose IDH gene mutations with 100% accuracy. They are conducting more research to find other signatures in tumors where the mutation is absent. In addition, they plan to broaden their discoveries to include other types of brain cancers.

This study was supported in part by the National Cancer Institute of the National Institutes of Health under award number R33CA240181. For a full list of authors, funding and disclosures, see the paper.

Mayo Clinic researchers have developed a new surgical platform that uses mass spectrometry to identify isocitrate dehydrogenase (IDH) mutations in gliomas in real time. This platform allows for rapid, intraoperative decision-making, potentially improving patient outcomes by enabling personalized treatment approaches. The study demonstrated 100% accuracy in diagnosing IDH mutations and suggests future applications for delivering targeted therapies during surgery. Ongoing research aims to identify additional tumor signatures and expand the platform's use to other brain cancers.

Mayo Clinic researchers report on a new surgical platform used during surgery that informs decision-making about tumor treatment within minutes. 

New Research Platform Assesses Brain Cancer Mutations During Surgery

Melanoma, an aggressive form of skin cancer that accounts for 75% of all skin-cancer-related deaths, is often detected later in people with darker skin complexions and the consequences can be devastating, a Mayo Clinic study reveals.

While melanoma may be found less frequently in people with darker complexions than fair ones, this potentially serious form of cancer can strike anyone. The study, which consisted of 492,597 patients with melanoma, suggests that added vigilance in early screening is particularly needed for Black men, whose cancers are often found at later stages, leading to worse outcomes compared to white patients.

"We compared non-Hispanic Black patients to white patients and saw striking differences in how patients presented with the disease," says surgical oncologist Tina Hieken, MD, senior author of the study and a researcher at Mayo Clinic Comprehensive Cancer Center. "We saw more extremity melanoma, and more later-stage disease."

Extremity melanoma refers to skin cancer that can develop on the arms, legs, hands and feet. Various factors, including social risk factors and biological components, could be at play, but further research is needed to help determine why these differences exist.

Revealing differences in sex-based immune response
The research found that Black female patients with melanoma fared better than Black male patients.

Men tended to be older at diagnosis and more likely to have cancer that had spread to their lymph nodes compared to women. This translated to worse survival rates. The researchers learned that Black men with stage 3 melanoma have only a 42% chance of surviving for five years, compared to 71% for Black women.

Most research on melanoma hasn't focused on how race and sex affect outcomes and hasn't looked at the influence of race and ethnicity across all groups. Dr. Hieken says the study highlights the need to understand these differences better, noting that this is the first large study to confirm that sex‐based differences in melanoma outcomes exist within the non-Hispanic Black population.

"When we talk about later-stage melanoma patients who are female versus male in that non-Hispanic Black patient cohort who ended up doing worse, some biological things may be going on here that are interesting," says Dr. Hieken.

One theory centers on variations in immune response.

"Several immune signals suggest that women may respond better to some immunotherapies than males," says Dr. Hieken.

Identifying the need
Researchers note that more studies focused on melanoma in a broader range of people, including more Black participants in clinical trials, is key to bridging this knowledge gap and potentially identifying more effective treatments.

"We want to broaden and deepen our reach to better understand the disease that affects all patients," says Dr. Hieken.

She underscores the role played by the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery in this study.

"What we've done with the Kern Center, with this study and others, is to identify the need," says Dr. Hieken. "We have a rich, integrated, multidisciplinary clinical research practice in melanoma, and we want to address clinical needs and knowledge gaps relevant to our practice."

A wake-up call in the battle against melanoma
Dr. Hieken notes that this study is a wake-up call for everyone battling to diagnose and cure melanoma, regardless of the patient's sex or skin tone.

She emphasizes that healthcare professionals should carefully examine areas like palms, soles and under fingernails, where melanoma might be more challenging to spot on darker skin.

"We can incorporate screening for skin lesions or lesions under the nails into the visit for patients as part of their regular checkups," says Dr. Hieken. "What we want to do is elevate care for our patients."

The Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery and Breast and Melanoma Surgical Oncology in the Department of Surgery supported this research. Review the study for a complete list of authors, disclosures and funding.

Melanoma is often detected later in people with darker skin complexions and the consequences can be devastating, a Mayo Clinic study reveals.


Mayo Clinic