ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2021
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
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Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
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48citing papers in PubMed, 2 pooled it
10.6field-weighted citation impact, top 1% of its field
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.European journal of human genetics : EJHG · 2024Guideline
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Childhood cancer predisposition study: a prospective registry and biorepository protocol.BMJ open · 2026Article
- The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments.Familial cancer · 2026Review
- Review
- Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma.Nature genetics · 2026Article
- Rare but not forgotten: Therapeutic advancements for rare childhood cancers.Molecular therapy. Oncology · 2025Review
- Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.Animal models and experimental medicine · 2025Article
- Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025Review
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- A population-based analysis of the molecular landscape of glioma in adolescents and young adults reveals insights into gliomagenesis.Nature cancer · 2025Article
- Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.Nature communications · 2025Article
- Clinical Implications of Mismatch Repair Deficiency in Pancreatic Ductal Adenocarcinoma.Cancer medicine · 2025Review
- Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management.Journal of Korean Neurosurgical Society · 2025Article
- Preface : Invited Issue Editor, Professor Tai-Tong Wong and the Cancer Predisposition Syndrome.Journal of Korean Neurosurgical Society · 2025Article
- MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.Acta neuropathologica · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Central nervous system tumors in adolescents and young adults: A Society for Neuro-Oncology Consensus Review on diagnosis, management, and future directions.Neuro-oncology · 2025Review
Corrections and comments
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Authors and funding
106 authors at 20 institutions in 18 countries.
Carol DurnoDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada.
Ayse Bahar ErcanThe Hospital for Sick Children, The Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, ON, Canada.ORCID 0000-0003-3612-3515
Vanessa BianchiThe Hospital for Sick Children, The Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, ON, Canada.
Melissa EdwardsThe Hospital for Sick Children, The Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, ON, Canada.
Melyssa AronsonMount Sinai Hospital, The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Disease, Toronto, ON, Canada.
Melissa GalatiThe Hospital for Sick Children, The Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, ON, Canada.
Eshetu G AtenafuDepartment of Biostatistics, Princess Margaret Cancer Centre, University of Toronto, Toronto, ON, Canada.ORCID 0000-0002-4613-3680
Gadi Abebe-CampinoDepartment of Pediatric Hematology-Oncology, Sheba Medical Center, Tel Hashomer, Israel.ORCID 0000-0002-7946-8081
Abeer Al-BattashiMinistry of Health Oman, Child Health Specialist Muscat, Muscat, Oman.
Musa AlharbiDepartment of Pediatric Hematology Oncology, King Fahad Medical City, Riyadh, Saudi Arabia.
Vahid Fallah AzadMAHAK Pediatric Cancer Treatment and Research Center (MPCTRC), Tehran, Iran.
Hagit N BarisRambam Health Care Campus, The Genetics Institute, Haifa, Israel.
Donald BaselMedical College of Wisconsin, Pediatrics, Milwaukee, WI.
Raymond BedgoodColiseum Medical Centers, Macon, GA.ORCID 0000-0002-0152-889X
Anne BendelDepartment of Pediatric Hematology-Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
Shay Ben-ShacharTel Aviv Sourasky Medical Center, Genetic Institute, Tel Aviv, Israel.
Deborah T BlumenthalOncology Division, Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel.
Maude BlundellSutter Health, Cancer Risk Program, Sacramento, CA.
Miriam BornhorstChildren's National Medical Center, Brain Tumor Institute, Washington, DC.ORCID 0000-0002-7595-7726
Annika BronsemaDepartment of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Elizabeth CairneyDepartment of Pediatrics, London Health Sciences Centre, London, ON, Canada.
Sara RhodeDepartment of Hematology and Oncology, Cleveland Clinic, Cleveland, OH.
Shani CaspiSheba Medical Center, Cancer Research Center, Tel Hashomer, Israel.
Aghiad ChamdinMichigan State University, College of Human Medicine, Center for Bleeding and Clotting Disorders, East Lansing, MI.
Stefano ChiaravalliPediatric Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Lombardia, Italy.
Shlomi ConstantiniDepartment of Pediatric Neurosurgery, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.ORCID 0000-0002-3170-5295
Bruce CrooksDivision of Hematology-Oncology, IWK Health Centre, Halifax, NS, Canada.ORCID 0000-0003-4715-4536
Anirban DasDivision of Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-7653-9529
Rina DvirDepartment of Pediatric Hemato-Oncology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Roula FarahLebanese American University Medical Center-Rizk, Beirut, Lebanon.ORCID 0000-0002-6392-1590
William D FoulkesDeparments of Oncology and Human Genetics, McGill University Health Centre, Cancer Genetics Program, Montreal, QC, Canada.ORCID 0000-0001-7427-4651
Zehavit FrenkelSheba Medical Center at Tel Hashomer, Tel Hashomer, Israel.
Bailey GallingerDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Sharon GardnerDepartment of Pediatric Hematology-Oncology, NYU Langone Health, New York, NY.
David GassDepartment of Pediatric Hematology and Oncology, Atrium Health, Charlotte, NC.
Mithra GhalibafianMAHAK Pediatric Cancer Treatment and Research Center (MPCTRC), Tehran, Iran.
Catherine GilpinChildren's Hospital of Eastern Ontario, Genetics, Ottawa, ON, Canada.
Yael GoldbergDepartment of Oncology, Hadassah Medical Center, Jerusalem, Israel.
Catherine GoudieDivision of Oncology, McGill University Health Centre, Montreal, QC, Canada.
Syed Ahmer HamidThe Indus Hospital, Karachi, Sindh, Pakistan.ORCID 0000-0001-5024-6648
Heather HampelThe Ohio State University Comprehensive Cancer Center, Internal Medicine, Columbus, OH.ORCID 0000-0001-7558-9794
Jordan R HansfordThe Royal Children's Hospital Melbourne, Children's Cancer Centre, Parkville, Victoria, Australia.ORCID 0000-0001-7733-383X
Craig HarlosDepartment of Medical Oncology and Hematology, CancerCare Manitoba, Winnipeg, MB, Canada.
Nobuko HijiyaPediatric Hematology Oncology and Stem Cell Transplant, Columbia University Irving Medical Center, New York, NY.ORCID 0000-0002-0199-054X
Saunders HsuDepartment of Pediatric Hematology-Oncology, Sutter Health, Sacramento, CA.
Junne KamiharaDana-Farber Children's Hospital Cancer Center, Pediatric Oncology, Boston, MA.ORCID 0000-0002-2852-7387
Rejin KebudiDepartment of Pediatric Hematology-Oncology, Istanbul University, Fatih, Istanbul, Turkey.ORCID 0000-0003-4344-8174
Jeffrey KnipsteinDepartment of Pediatric Neurology, Medical College of Wisconsin, Milwaukee, WI.
Carl KoschmannDepartment of Pediatric Hematology-Oncology, University of Michigan Medical School, Ann Arbor, MI.ORCID 0000-0002-0825-7615
Christian KratzDepartment of Pediatric Haematology and Oncology, Hospital of the Goethe University Frankfurt, Frankfurt am Main, Hessen, Germany.ORCID 0000-0003-4120-5873
Valerie LaroucheDepartment of Hematology-Oncology, CHU de Quebec-Universite Laval, Quebec, QC, Canada.ORCID 0000-0002-9773-0995
Alvaro LassalettaDepartment of Pediatric Hematology-Oncology, Hospital Infantil Universitario Nino Jesus, Madrid, Spain.ORCID 0000-0003-2881-1473
Scott LindhorstDepartment of Hematology-Medical Oncology, Medical University of South Carolina, Charleston, SC.ORCID 0000-0002-1585-4450
Simon C LingDivision of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada.
Michael P LinkDepartment of Pediatrics, Stanford Medicine, Stanford, CA.
Rebecca Loret De MolaDepartment of Pediatrics, Oregon Health & Science University, Portland, OR.
Rebecca LuitenDepartment of Clinical Cancer Genetics, Banner MD Anderson Cancer Center, Gilbert, AZ.
Michal LuryeSheba Medical Center at Tel Hashomer, Tel Hashomer, Israel.
Jamie L MaciaszekSaint Jude Children's Research Hospital, Memphis, TN.
Vanan MagimairajanIssaiDepartment of Pediatric Hematology-Oncology, CancerCare Manitoba, Winnipeg, MB, Canada.ORCID 0000-0003-2015-0615
Ossama M MaherDepartment of Pediatric Hematology-Oncology, Nicklaus Children's Hospital, Miami, FL.
Maura MassiminoPediatric Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Lombardia, Italy.
Rose B McGeeSaint Jude Children's Research Hospital, Memphis, TN.ORCID 0000-0001-7392-6515
Naureen MushtaqAga Khan University Hospital, Karachi, Pakistan.ORCID 0000-0002-5461-3350
Gary MasonChildren's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.ORCID 0000-0002-3023-687X
Monica NewmarkAnn and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
Garth NicholasDivision of Medical Oncology, University of Ottawa, Ottawa, ON, Canada.
Kim E NicholsDepartment of Oncology, Saint Jude Children's Research Hospital, Memphis, TN.ORCID 0000-0002-5581-6555
Theodore NicolaidesDepartment of Pediatric Hematology-Oncology, NYU Langone Health, New York, NY.
Enrico OpocherDepartment of Pediatrics, University of Padua, Padova, Veneto, Italy.
Michael OsbornPaediatric Haematology, Womens and Childrens Hospital (WCH), North Adelaide, South Australia, Australia.ORCID 0000-0002-1288-9930
Benjamin OshrineJohns Hopkins All Children's Hospital, Cancer and Blood Disorders Institute, Saint Petersburg, FL.
Rachel PearlmanDepartment of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH.ORCID 0000-0002-9293-5860
Daniel PetteeAkron Children's Hospital, Akron, OH.
Jan RappWest Virginia University Cancer Institute, Morgantown, WV.
Mohsin RashidIWK Health Centre, Halifax, NS, Canada.
Alyssa ReddyUniversity of California San Francisco, San Francisco, CA.ORCID 0000-0002-5052-0501
Lara ReichmanMcGill University Health Centre, Montreal, QC, Canada.
Marc RemkeUniversity Hospital Dusseldorf, Dusseldorf, Nordrhein-Westfalen, Germany.
Gabriel RobbinsDepartment of Pediatric Hematology-Oncology, NYU Langone Health, New York, NY.ORCID 0000-0002-4447-0667
Sumita RoyWayne State University, Detroit, MI.
Magnus SabelDepartment of Pediatrics, University of Gothenburg Sahlgrenska Academy, Goteborg, Sweden.ORCID 0000-0002-3072-657X
David SamuelValley Children's Hospital, Madera, CA.
Isabelle ScheersUniversite Catholique de Louvain La Faculte de Medecine, Bruxelles, Belgium.
Kami Wolfe SchneiderDepartment of Pediatric Hematology-Oncology, Children's Hospital Colorado, Aurora, CO.ORCID 0000-0003-0865-8010
Santanu SenDepartment of Pediatrics, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, Maharashtra, India.
Duncan StearnsUH Rainbow Babies and Children's Hospital Division of Pediatrics, Pediatric Neuro-oncology, Cleveland, OH.ORCID 0000-0002-8847-6112
David SumerauerDepartment of Pediatric Hematology and Oncology, 2nd Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czechia.ORCID 0000-0003-4988-9974
Carol SwallowDepartment of Surgery, Mount Sinai Hospital, Toronto, ON, Canada.
Leslie TaylorSaint Jude Children's Research Hospital, Memphis, TN.
Gregory ThomasOregon Health & Science University, Portland, OR.
Helen ToledanoDepartment of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.ORCID 0000-0002-1476-7937
Patrick TombocDepartment of Pediatrics, West Virginia University, Morgantown, WV.
An Van DammeDepartment of Pediatric Hematology and Oncology, Universite Catholique de Louvain, Louvain-la-Neuve, Walloon Brabant, Belgium.ORCID 0000-0002-7114-201X
Ira WinerWayne State University, Detroit, MI.
Michal YalonDepartment of Pediatric Hematology-Oncology, Sheba Medical Center, Tel Hashomer, Israel.
Lee Yi YenDepartment of Neurosurgery, Taipei Veterans General Hospital, Taipei, Taiwan.ORCID 0000-0003-3709-885X
Michal ZapotockyMotol University Hospital, Praha, Czechia.ORCID 0000-0002-2349-2541
Shayna ZelcerDepartment of Pediatrics, London Health Sciences Centre, London, ON, Canada.
David S ZieglerSydney Children's Hospital Randwick, Kids Cancer Centre, Randwick, New South Wales, Australia.
Stefanie ZimmermannDepartment of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Niedersachsen, Germany.ORCID 0000-0003-1967-7292
Cynthia HawkinsDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-2618-4402
David MalkinDivision of Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
Eric BouffetDivision of Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-6832-6539
Anita VillaniDivision of Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-3283-2197
Uri TaboriDivision of Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-5019-2683
Hospital for Sick Children · CASheba Medical Center · ILSt. Jude Children's Research Hospital · USMount Sinai Hospital · CANYU Langone Health · USTel Aviv Sourasky Medical Center · ILUniversity of Toronto · CAFondazione IRCCS Istituto Nazionale dei Tumori · ITIzaak Walton Killam Health Centre · CALondon Health Sciences Centre · CAMahak Hospital and Rehabilitation Complex · IRMcGill University Health Centre · CAMedical College of Wisconsin · USOregon Health & Science University · USSutter Health · USWayne State University · USWest Virginia University · USAtrium Medical Cente · USCharles University · CZChildren's Hospital of Eastern Ontario · CA
Funding
CIHR
Abstract
purposeConstitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND
methodsData were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation.
resultsA total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (
conclusionSurveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
Indexed as
DNA Mismatch RepairAdolescentAdultBrain NeoplasmsChildChild, PreschoolColorectal NeoplasmsDNA Repair EnzymesEarly Detection of CancerFemaleFollow-Up StudiesHumansMaleNeoplastic Syndromes, HereditaryPopulation SurveillancePrognosisDNA Repair Enzymes
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