“The natal teeth were little paper-thin teeth that fell out right away, as they didn’t have well-developed roots. And, where I had natal teeth, I had no secondary teeth later in life,” said Graham, a retired professor of Medical Genetics and Pediatrics and former director of the Division of Clinical Genetics and Dysmorphology at Cedars-Sinai. “The condition is called tooth agenesis.”

Tooth agenesis can pose challenges such as difficulty breastfeeding, confidence issues due to missing teeth and costly out-of-pocket expenses for dental work.

Graham experienced those challenges firsthand. Correcting his missing teeth required extensive dental implants, procedures that continued well into adulthood. And as a teen active in sports, he frequently required repairs to fix chipped teeth.

The puzzling condition affected five generations of Graham’s family, beginning with his maternal grandfather. Graham’s mother wore false teeth for much of her life, and several of her siblings showed signs of the condition. Two of his three sons were born with natal teeth, and a granddaughter is also affected.   

Graham had a strong hunch that it was an inherited genetic condition. That curiosity ultimately shaped his career. Graham pursued genetics in medical school, driven in part by a desire to understand the condition affecting his family. Years later, he began a formal search for the responsible mutation.

After more than 12 years of research, the mystery has finally been solved.

In a study published in the International Dental Journal, a team of investigators led by Graham and his longtime Cedars-Sinai colleague Pedro Sanchez, MD, identified a mutation in the KDF1 gene as the likely root cause of natal teeth. While natal teeth are relatively common and occur in approximately 1 in every 1,000 newborns, KDF-1-related multiple natal teeth with tooth agenesis is quite rare.

Finding the Gene Mutation

Finding the mutation was not a simple task. For Graham’s first attempt in 2013, he ran tests on DNA samples he collected from affected and unaffected family members. But the genetic testing tools available at the time were not advanced enough to comb through the 20,000 genes in the human genome.

“In order to make a gene discovery, you have to know it's there, and you have to know what it does,” Graham said. “The same gene can give rise to different genetic diagnoses. And how it does that, it's not always clear.”

Years later, as Graham prepared for retirement, Sanchez, Graham’s mentee and director of Pediatric Medical Genetics at Cedars-Sinai Guerin Children’s, encouraged him to revisit the research.

Sanchez credits Graham with inspiring his own path into genetics. Over the years, the two developed a close professional and personal bond, even co-authoring medical textbooks.

“I know him, I know his family, and I'm the same age as his kids,” Sanchez said. “Knowing this condition had affected them for generations without closure, I felt there was a missing piece. The tools had evolved, and I believed we could work together and find an answer.”

A Detailed Look Into DNA

When Sanchez revisited Graham’s family data with fresh eyes and newer genetic tools, he took a more targeted approach and focused on collecting DNA samples from four family members: Graham and one affected son, as well as Graham’s wife and one unaffected son, who served as controls.

This time, Sanchez deployed whole genome sequencing, a comprehensive test that analyzes a person’s entire DNA sequence.

“I treated them just like a family we see in our clinic,” Sanchez said. “We ended up doing a focused exam, and we sequenced all four of them.”

The strategy worked.

The team pinpointed a mutation in the KDF1 gene, which is known to play a role in epidermal development, including structures like skin and teeth.

The finding doesn’t offer a cure for tooth agenesis, but it opens doors to earlier diagnosis, improved counseling for families and a pathway for research into potential treatments. It may also strengthen advocacy efforts for dental insurance coverage.

For Graham, however, the impact is more than scientific. After decades of questions, the answer is finally in hand, bringing a sense of closure to a family that dealt with this trait for generations. Sanchez said he’s honored to be part of the solution.

“Dr. Graham, as a mentor, taught me to be a physician,” Sanchez said. “It's really nice that he was able to share the findings with his family and finally give the gene variant that has affected them for generations a name.”

Read more from Cedars-Sinai Stories and Insights: How Do Your Genes Fit? Cracking the Code on Breast Cancer Risk

The new study, called BLOOMS (Babies’ Longitudinal Outcomes, Omics and Milestones Study), launched last year with the goal of recruiting approximately 1,000 infants admitted to neonatal intensive care units (NICUs) at Cedars-Sinai and another 1,000 infants admitted to NICUs across three National Health System (NHS) hospitals in the United Kingdom. In addition to Guerin Children’s, BLOOMS brings together an international research team led by investigators at the University of Cambridge in the U.K. and collaborators in Singapore from the Agency for Science, Technology and Research (A*STAR).

Using genomics to address urgent health needs of the sickest, most vulnerable babies in the NICUs, the research aims to predict future health complications that might affect children’s school readiness by age 5.

“The study is part of the ambition at Guerin Children’s to integrate genomics into care across the lifespan,” said David H. Rowitch, MD, PhD, the principal investigator of BLOOMS and deputy director of Research at Guerin Children’s. “With the support of the Wellcome Trust funding and global collaboration across three countries, we are opening new pathways to better understand the challenges associated with NICU admission so that we can effectively support every child’s full potential.”

While most institutions in the consortium can perform whole genome sequencing to identify genetic risks, Cedars-Sinai’s unique expertise in proteomics—advanced tools to study the structure and function of proteins in real time—provides further valuable insights. Cedars-Sinai investigators aim to use proteomics to identify early disease biomarkers that might predict health and neurodevelopmental conditions that affect school readiness.

Having early access to often overlooked yet vital information about at-risk NICU babies could significantly aid in mitigating future health and developmental challenges by understanding disease origins and in driving targeted treatments.

The study will incorporate the outcome of school readiness, a common assessment tool in the U.K. typically used to measure a child’s physical, cognitive, social and emotional development for integrating into the formal schooling system. This important predictor of early life-course trajectory may be positively influenced by early medical and educational interventions.

“By early identification of school readiness issues such as a learning disability—especially in NICU babies—we can enable medical teams to potentially implement timely interventions, including precision medicine approaches based on genetic makeup to improve the life trajectory for these children,” said Catherine Aiken, MD, chief lead investigator of the study and an academic clinical lecturer in the Department of Obstetrics and Gynaecology at the University of Cambridge.

The study will follow the recruited children until they reach the age of 5, with results expected to be reported by 2033.

“International collaboration is key to advancing research and solving global health challenges,” said Neerja Karnani, PhD, deputy director at A*STAR Bioinformatics Institute and senior principal investigator at the A*STAR Institute for Human Development and Potential (A*STAR IHDP).  

Singapore’s participation in BLOOMS, supported by A*STAR BII’s expertise in secure data analytics, will create opportunities to integrate and align early childhood development initiatives and strategies with the U.K.

By pooling diverse genetic data from the participating institutions, the investigators hope to initiate a paradigm shift in diagnosing and treating early childhood diseases, moving toward a more proactive approach to addressing pediatric health complications on multiple continents as early as possible. 

“The BLOOMS study is a testament to Cedars-Sinai's unwavering commitment to advancing pediatric care through leading-edge research,” said Shlomo Melmed, MB, ChB, executive vice president of Medicine and Health Sciences and dean of the Medical Faculty at Cedars-Sinai. “By participating in this global collaborative effort, we are enhancing our understanding of genomics and improving long-term health outcomes for newborns and their families.”

Read more from Cedars-Sinai Stories and Insights: A Map of Disease Beginnings

As part of the NORD network, Cedars-Sinai joins a select group of 46 institutions in the United States, all working together to shorten diagnostic timelines, expand access to care and train the next generation of rare disease experts.

“This designation underscores Cedars-Sinai’s unique expertise in rare diseases and reinforces our commitment to our patients, who often struggle to find providers familiar with their conditions,” said Joyce So, MD, PhD, chief genomics officer at Cedars-Sinai. “Through the NORD network, we will be able to share knowledge, resources and clinical expertise to help bridge gaps in care and improve patient outcomes both in the U.S. and globally.”

A rare disease, by definition, is any disease that affects 200,000 people or fewer.

According to the National Institutes of Health, an estimated 10,000 rare diseases, such as Duchenne muscular dystrophy and Marfan syndrome, affect millions of people in the United States. Nearly 1 in 10 people in the U.S. are diagnosed with a rare disease, and about half of these patients are children.

“People with rare diseases often face long, uncertain diagnostic journeys, and receiving a proper diagnosis can take five to 10 years,” said So, medical director of the newly established Center for Genomic Medicine at Cedars-Sinai Guerin Children’s.

There are often no established standards of care for these conditions due to limited funding and research, and more than 90% of rare diseases have no treatment approved by the U.S. Food and Drug Administration.

The recognition from NORD strengthens Cedars-Sinai’s role as a hub for clinical trials and genomic research, helping accelerate the development of innovative therapies for rare genetic diseases. So, along with Saquib Lakhani, MD, director of the Early Detection Program at Guerin Children’s, will serve as co-director of the NORD Rare Disease Center of Excellence.

“NORD is proud to welcome Cedars-Sinai to our network of prestigious institutions driving breakthroughs and expanding the front lines of rare disease care and research,” said Pamela K. Gavin, chief executive officer at NORD. “Together, we are ensuring that everyone living with a rare disease can have shorter diagnostic journeys regardless of condition or location and receive timely care.”

The Center for Genomic Medicine will focus on growing the utilization of genetics and genomics across Cedars-Sinai Health System, with experts using whole-genome sequencing and other leading-edge technologies to study genes and variants linked to rare diseases. By analyzing each individual’s unique genetic profile, experts can help provide early insight into genetic risks for disease, detect inherited conditions earlier, help clinicians tailor diagnostic strategies and provide personalized, patient-centered treatment plans.

“Families dealing with rare conditions deserve timely answers and access to innovation, and Cedars-Sinai has a longstanding commitment to excellence in rare diseases, from clinical care to translational research to advocacy,” Lakhani said. “The NORD Center of Excellence designation recognizes our existing expertise and will help us build a supportive community of clinicians, researchers and families that will make it easier for patients to find support.”

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So brings more than 15 years of leadership experience in research and clinical care to her new role. She will spearhead Cedars-Sinai’s growing genomics initiatives and serve as a strategic leader for the integration of genomics into clinical practice while overseeing genetics and genomics services across the Cedars-Sinai Health System.

“We are excited to welcome Dr. So to Cedars-Sinai, knowing her exceptional expertise and leadership in clinical genetics will be a significant asset to the burgeoning prenatal, pediatric and adult genetics programs,” said Shlomo Melmed, MB, ChB, executive vice president of Medicine and Health Sciences and dean of the Medical Faculty at Cedars-Sinai. “Her appointment will ensure Cedars-Sinai remains at the forefront of genomic endeavors, benefiting and transforming the lives of our patients.”

So has joined Cedars-Sinai from the University of California, San Francisco (UCSF), where she was chief of the Division of Medical Genetics and medical director of Adult Genetics. She was also director of the institution’s designation as a National Organization for Rare Disorders Rare Disease Center of Excellence. During her tenure, she developed a comprehensive genetics program that included the launch and rapid growth of UCSF’s Adult Genetics and Preventive Genomics Clinic; the expansion of multidisciplinary specialty services in cardiovascular, neurogenetic and cancer genetics; and the implementation of innovative e-consult and telehealth services to improve access to genetic care.

So earned her bachelor’s degree with high distinction in molecular biology and molecular genetics and her medical degree from the University of Toronto. She completed her medical genetics residency at the university’s Hospital for Sick Children and earned her doctorate in molecular genetics from the Max Planck Institute for Molecular Genetics in Berlin and completed a postdoctoral research fellowship in psychiatric genetics at the Centre for Addiction and Mental Health in Toronto.

“I am honored to join Cedars-Sinai as the inaugural chief genomics officer to advance the fields of genetics and genomics with the goal of enhancing patient care and health outcomes,” So said. “Together with our talented team of investigators and clinicians, we will push the boundaries of what is possible in genomic medicine for the benefit of our patients, their families and the wider community.”

So’s current research focuses on optimizing genetic diagnosis and treatment strategies for adults with complex neurodevelopmental, neuropsychiatric and neurological conditions. She also is deeply committed to quality and continuous improvement in the delivery of genetics and genomics clinical services.

“Dr. So’s appointment reinforces our commitment to advancing precision medicine and making leading-edge genomic care accessible to all our patients through all stages of life,” said Ophir Klein, MD, PhD, executive vice dean of Children’s Health and executive director of Guerin Children’s. “We are excited to expand our research and clinical capabilities under her leadership.”

Read more on the Cedars-Sinai Blog: Do Children Need Genetic Testing?

The findings, published in Biology of Sex Differences, add to a growing body of research showing the placenta undergoes rapid genetic changes during the first trimester that may have effects lasting into adulthood.

“We know the fetus’ sex can impact a mother’s risk for conditions such as preeclampsia, hyperemesis, and gestational diabetes, as well as risk for miscarriage,” said Margareta Pisarska, MD, director of the Fertility and Reproductive Medicine Center at Cedars-Sinai and corresponding author of the study. “We are trying to understand what exactly happens during sex differentiation that may also affect outcomes for the mother and her baby.”

The investigators studied first trimester placental tissue collected from 56 women who underwent chorionic villus sampling, a prenatal diagnostic test that checks for chromosomal abnormalities and is typically offered to women who will be 35 or older when they give birth. The investigators sought to identify signals that turn genes on and off and how these signals lead to changes in how a gene is expressed.

Many of the genes they identified are on the X and Y chromosomes, which determine sex. (Women have two X chromosomes and men have one X and one Y.) However, the investigators also identified genes expressed on chromosomes that males and females share.

The investigators identified 151 signals that turn genes on and off. The signals affected 18 genes that were turned on or off depending on the sex of the fetus. One gene, for example, ZNF300, was turned on in females but not in males, an observation the investigative team intends to explore further.

In another recently published study, Pisarska and colleagues studied placental samples from women in their first and third trimester and observed that sex differences in gene expression were more common in the first trimester.

“The expression of certain genes during early pregnancy may contribute to sex differences in the health and disease of adults,” Pisarska said. “Females, for example, are more likely than males to experience autoimmune diseases. We think gene expressions are markers that define not just pregnancy outcomes, but also tell us how sex differences in certain diseases are manifested.”

The investigators plan to study how modifying which genes get turned on or off might minimize disease in the mother, fetus and eventual child and adult.

Other Cedars-Sinai authors involved in the Biology of Sex Differences study include Tania L. Gonzalez, PhD; Bryn E. Willson, MD; Erica T. Wang; Allynson Novoa, BS; Akhila Swarna, BS; Juanita C. Ortiz; Gianna J. Zeno; Caroline A. Jefferies, PhD; Kate Lawrenson, PhD; John Williams III, MD; Jinrui Cui, MS; and Mark O. Goodarzi, MD, PhD.

This work was supported the National Institutes of Health under awards by the Eunice Kennedy Shriver National Institute of Child Health & Human Development (R01HD091773 to MDP), The National Institute of Allergy and Infectious Disease (R01AI154535 to MDP), the National Institute of Biomedical Imaging and Bioengineering (U01EB026421 to MDP), and the Training Program in Endocrinology, Diabetes, and Metabolism (T32DK007770 to TLG). Infrastructure for the CHARGE Consortium is supported in part by the National Heart, Lung, and Blood Institute (NHLBI) grant R01HL105756. This study was also supported by the National Center for Advancing Translational Sciences, CTSI grant UL1TR001881, and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) grant DK063491 to the Southern California Diabetes Endocrinology Research Center.

Read more on the Cedars-Sinai Blog: Faces of Cedars-Sinai—Fertility Expert Dr. Margareta Pisarska

, and colleagues organized a meeting in Cambridge, UK, to bring together researchers from around the world studying the genetics of ovarian cancer. It led to the creation of the Ovarian Cancer Association Consortium (OCAC). Nearly 20 years later, the collaborating scientists are still working together.

“Almost everything we know about the genetics of ovarian cancer has come from this consortium, and that's involved working together,” he said.

Now, as professor and research scientist in the Department of Computational Biomedicine since 2022, Pharoah aims to work with colleagues across departments and laboratories at Cedars-Sinai to make similar inroads in tough-to-treat diseases.

Pharoah was previously professor of Cancer Epidemiology at the University of Cambridge where he led a research group studying how the genetic variants that people inherit alter risk for hormone-related cancers, and how patient and tumor characteristics affect chances of survival after a diagnosis of cancer. His research into prognostic factors led him to create two online tools that help clinicians make treatment decisions: PREDICT Breast Cancer and PREDICT Prostate. His work was recognized with the John Graunt Prize for Extraordinary Achievement in Population Sciences in 2016.

Pharoah spoke with the Cedars-Sinai Newsroom about new collaborations he looks forward to forming.

What has made your collaborations possible?

OCAC has been successful because we all shared the same vision for the sort of science we wanted to do, and we were willing to share data to make it happen. My team has collaborated with investigators from Cedars-Sinai for years, which is part of the reason I came here. Simon Gayther, PhD, was one of the founding members of OCAC, and Michelle Jones, PhD, joined seven years ago. In the past seven years, we have worked very closely on several consortium projects and the OCAC database is now hosted by us at Cedars-Sinai.

What inspired you to create the PREDICT websites?

I wanted to apply data on how different cancers behave and how people respond to treatment to develop tools to help oncologists personalize their approaches and guide their discussions with patients. The tools can explain the probabilities of a patient surviving depending on the treatment they get, and how different combinations of treatments might affect those percentages.

What projects are you currently working on?

My colleagues in Computational Biomedicine and I will develop the PREDICT tools further so they can incorporate data from a more diverse population than the initial data from the UK model.  

We're particularly interested in seeing how well the PREDICT Breast Cancer tool performs with women of African ancestry and women of Latin ancestries. One of our plans is to incorporate U.S. national data and data from Cedars-Sinai.

Looking ahead, what excites you most about the clinical applications of cancer epidemiology?

On the ovarian cancer genetics front, I would hope that in the next few years, with all the whole genome sequencing data that's becoming available from various biobanks around the world, we'll be able to use those data to continue to unravel the inherited basis of ovarian cancer.

We would like the opportunity to expand the PREDICT model into other cancers. There is a team in the UK working on kidney cancer prediction, and there's potential for doing work on colorectal cancer.

I'm also enjoying work on molecular pathology. We would like to start using some of the newer techniques such as spatial transcriptomics and spatial proteomics to investigate more complex patterns in the molecular pathology of ovarian cancer, and how they relate to clinical outcomes. We are particularly interested in studying the role of tumor immune cells.

When it comes to ovarian cancer, what we understand about the biology says patients should respond to immunotherapy, but, in fact, they often don't. There is work to be done in understanding what it is about the immune environment in this cancer that prevents response to immunotherapy. This is an area of research that is developing rapidly.

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The study is published in the journal Gastroenterology.

“We found that being female, smoking, or having a history of surgeries to treat Crohn’s disease or ulcerative colitis puts patients more at risk for developing other serious inflammatory conditions,” said Talin Haritunians, PhD, co-senior author of the study and an associate professor of Medicine at Cedars-Sinai.

“Genetic variations of IBD, as well as the location of the disease in the gastrointestinal tract, were also associated with developing debilitating extraintestinal manifestations of the disease affecting the eyes, joints, skin, liver and spine,” Haritunians said.

The multi-center study involved over 12,000 subjects: the largest study of extraintestinal manifestations of IBD to date, according to investigators. The scientists looked at patients who had at least one of seven different conditions occurring outside the gut, including psoriasis, inflammation of the eye, and ankylosing spondylitis, a condition which can degrade the spine or hips.

Investigators also identified genetic, clinical and immunological factors associated with primary sclerosing cholangitis—a condition which damages the liver—and with painful peripheral arthritis that affects both the small and large joints of the body.

“These inflammatory manifestations outside the gut impact about 40% of our patients with IBD. The disorders can have a very significant effect on quality of life and, in some instances, are life-threatening. Our findings will help us identify those at risk of developing these related conditions,” said Dermot McGovern, MD, PhD, the corresponding author of the study and director of Translational Research in the Cedars-Sinai F. Widjaja Inflammatory Bowel Disease Institute. 

McGovern expects the findings will also provide a guide to developing novel therapeutic treatments for the other disorders and may also address the underlying gut inflammation.

“Our clinical findings in this study shed light on the risk factors for morbidity associated with IBD. Our genetic findings highlight pathways that are targets for existing drugs or therapeutics in development. These discoveries are critical for developing more personalized approaches to the management of IBD and its various manifestations,” said McGovern, who holds the Joshua L. and Lisa Z. Greer Chair in Inflammatory Bowel Disease Genetics and is the director of Precision Health at Cedars-Sinai.

Other Cedars-Sinai authors involved in the study include Michelle Khrom, Shishir Dube, Gregory J. Botwin, Shaohong Yang, Emebet Mengesha, Dalin Li, Takeo Naito, Nirupama N. Bonthala, Christina Ha, Gil Melmed, Shervin Rabizadeh, Gaurav Syal, Stephan R. Targan Eric Vasiliauskas and David Ziring. Other authors include Millie Long, Lori Robbins, Steven R. Brant, Judy Cho, Richard H. Duerr, John Rioux, Phil Schumm, Mark Silverberg, Ashwin N. Ananthakrishnan, William A. Faubion, Bana Jabri, Sergio A. Lira, Rodney D. Newberry, Robert S. Sandler, Ramnik J. Xavier, Subra Kugathasan, David Hercules and R. Balfour Sartor.

This research was supported in part by the F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute. The Cedars-Sinai MIRIAD IBD Biobank is supported by the F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, National Institutes of Health/National Institute of Diabetes and Digestive and Kidney Diseases (NIH/NIDDK) grants (P01 DK046763 and U01 DK062413), and The Leona M and Harry B Helmsley Charitable Trust (DPBM and SHARE Consortium).

Conflict of Interest: Dermot McGovern is a consultant for MERCK, Prometheus Biosciences (acquired by MERCK), Takeda and Prometheus Labs.

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Read more in Discoveries Magazine: Ancestry Matters in IBD

“When patients with Lynch syndrome—whose first cancers generally appear at an early age—aren’t diagnosed promptly, they don’t get appropriate follow-up or surveillance,” said Megan Hitchins, PhD, director of Translational Genomics in the Department of Biomedical Sciences at Cedars-Sinai and lead author of the study. “They can go on to have multiple different cancers before they are finally diagnosed. If we could identify them when they have their first cancer, we could prevent additional cancers—or at least detect them earlier.”

Many colorectal and endometrial cancers have something called mismatch repair deficiency. This means that the tumor formed because of mistakes that occurred when DNA was copied during cell division.

In most cases of Lynch syndrome, this mismatch repair deficiency is caused by an inherited mutation in a DNA mismatch repair gene. But mismatch repair deficiency can also be caused by something called methylation. This is a change to a gene called MLH1.

“Methylation isn’t hard-wired into the gene the way a mutation is,” said Hitchins. “It’s added on, like debris clogging an engine. The engine itself is not defective, but it doesn’t work properly because it’s been clogged.”

MLH1 methylation is present in as many as 75% of tumors with mismatch repair deficiency, Hitchins said. It is usually present only in the tumor, meaning the defect is not inherited and the patient does not have Lynch syndrome.

“However, our study found that in a small fraction of patients, the methylation is present in normal tissues. It isn’t confined to the tumor. This predisposes cells to cancer development,” Hitchins said. “Because methylation is usually only present in the tumor, these patients have been automatically identified as non-Lynch patients, and never given the blood testing that would diagnose them with Lynch syndrome.”

To help determine how often this takes place, investigators reviewed data from two large retrospective population-based studies, and tested blood DNA from all mismatch repair deficient colorectal cancer patients who participated. Among patients age 55 and younger who had methylation in their tumors, 25%-75% also had methylation in their blood, meaning they had Lynch syndrome but had not been diagnosed.

In a previous study published in the journal Gynecologic Oncology, Hitchins and fellow investigators tested the blood of patients with endometrial cancer from the same patient populations. They found that approximately 30% of endometrial cancer patients had methylation in their tumors. And among those under age 50, 15%-20% also had methylation in their blood, indicating Lynch syndrome, Hitchins said.

“Taken together, these studies suggest this population of patients would benefit from a change in screening guidelines,” said Dan Theodorescu, MD, PhD, director of Cedars-Sinai Cancer and the PHASE ONE Distinguished Chair. “Appropriate screening can provide the opportunity for potentially lifesaving surveillance and early detection and treatment of subsequent cancers.”

For now, Hitchins recommends that colorectal cancer patients under age 56 and endometrial cancer patients under age 50 ask their healthcare providers about additional screening for themselves—and their parents, siblings and adult children. She also suggested that primary care providers and oncologists reach out to young patients from the past five years whose endometrial or colorectal tumors tested positive for MLH1 methylation.

“We’ve been finding young patients with endometrial or colorectal cancer who are told they don’t have Lynch syndrome, then go on to develop a colon or other cancer that might have been prevented, or at least detected earlier,” Hitchins said. “Those patients are walking around oblivious to their risk, and should be made aware of that fact and given the option of having a test.”

Funding: This study was funded by the National Cancer Institute of the National Institutes of Health R01 grant numbers CA218342, CA67941, and CA16058; a Cedars-Sinai Medical Center Precision Health Initiative Award; Spanish Ministry of Science grants SAF2015-68016-R, and PID2019-111254RB-I00; and travel fellowship number MINECO, EEBB-I-16-11581 from the Spanish Ministry of Economy, Industry and Competitiveness, and number RD12/0036/0031 from the RTICC network.

Read more on the Cedars-Sinai Blog: Uterine Cancer—What Women Need to Know