Evidence map›Paper›PMID 40996338›Full record

ArticleJournal of the National Cancer Institute2026

SMARCAL1 is a new osteosarcoma predisposition gene.

Maryam Rafati, Lillian M Guenther, Laura E Egolf, Matthew Gianferante, Jung Kim, Kevin Wang, Bin Zhu, Logan G Spector, Nathan Anderson, Katherine A Janeway and 29 more

Abstract read
In one paragraph

Article in Journal of the National Cancer Institute, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and IdentifiesJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors.

Maryam RafatiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-7118-3412
Lillian M GuentherDepartment of Oncology, St Jude Children's Research Hospital, Memphis, TN 38105, United States.ORCID 0000-0002-5906-7504
Laura E EgolfDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0002-7103-4801
Matthew GianferanteDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0003-4126-2093
Jung KimDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-6274-2841
Kevin WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0009-0005-5143-6909
Bin ZhuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0003-0172-5516
Logan G SpectorDepartment of Pediatrics, University of Minnesota, Minneapolis, MN 55454, United States.ORCID 0000-0003-2516-0222
Nathan AndersonDepartment of Pediatrics, University of Minnesota, Minneapolis, MN 55454, United States.ORCID 0009-0002-7145-3800
Katherine A JanewayDana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA 02215, United States.ORCID 0000-0001-6000-3594
Donald A BarkauskasDepartment of Population and Public Health Sciences, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90032, United States.ORCID 0000-0002-2339-719X
Douglas S HawkinsDepartment of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, United States.ORCID 0000-0003-3602-1375
Ana Patiño-GarciaDepartment of Pediatrics/Medical Genomics Unit and Program in Solid Tumors, Cima-Universidad de Navarra, Cancer Center Clínica Universidad de Navarra Pamplona, IdiSNA, Pamplona 31008, Spain.ORCID 0000-0002-4066-8203
Philip J LupoResearch and Epidemiology for Adolescent and Child Health (REACH) Center, Children's Healthcare of Atlanta, Atlanta, GA 30322, United States.ORCID 0000-0003-0978-5863
Michael E ScheurerResearch and Epidemiology for Adolescent and Child Health (REACH) Center, Children's Healthcare of Atlanta, Atlanta, GA 30322, United States.ORCID 0000-0002-8379-6088
Lindsay MortonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-9767-2310
Gregory T ArmstrongDepartment of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, TN 38105, United States.ORCID 0000-0001-8722-4207
Yadav SapkotaDepartment of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, TN 38105, United States.ORCID 0000-0001-5943-9454
M Monica GramatgesDivision of Hematology and Oncology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, United States.ORCID 0000-0002-0947-104X
Massimo SerraOsteoncology, Bone and Soft Tissue Sarcomas and Innovative Therapies, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Ortopedico Rizzoli, Bologna 40136, Italy.ORCID 0000-0003-0742-1177
Claudia HattingerOsteoncology, Bone and Soft Tissue Sarcomas and Innovative Therapies, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Ortopedico Rizzoli, Bologna 40136, Italy.ORCID 0000-0002-9316-5095
Katia ScotlandiLaboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, Bologna 40136, Italy.ORCID 0000-0001-6114-9499
Irene L AndrulisDepartment of Molecular Genetics, Lunenfeld-Tanenbaum Research Institute, Sinai Health System, University of Toronto, Toronto, ON M5G 1X5, Canada.ORCID 0000-0002-4226-6435
Jay S WunderUniversity of Toronto Musculoskeletal Oncology Unit, Sinai Health System, Toronto, ON M5G 1X5, Canada.ORCID 0000-0002-5978-9400
Mandy L BallingerCentre for Molecular Oncology, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2052, Australia.ORCID 0000-0002-9706-0514
David M ThomasCentre for Molecular Oncology, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2052, Australia.ORCID 0000-0002-2527-5428
Meredith YeagerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.
Michael DeanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0003-2234-0631
Douglas R StewartDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-8193-1488
Aurelie VogtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0003-1257-3095
Jia LiuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0002-4885-7180
Belynda D HicksDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-8014-4888
Wen-Yi HuangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0002-4440-3368
Maria Teresa LandiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0002-9727-7772
Adriana LoriDepartment of Population Science, American Cancer Society, Atlanta, GA 30303, United States.ORCID 0000-0001-8686-0148
W Ryan DiverDepartment of Population Science, American Cancer Society, Atlanta, GA 30303, United States.ORCID 0000-0002-5418-9000
Sharon A SavageDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-6006-0740
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0002-2324-3393
Lisa MirabelloDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20850-9772, United States.ORCID 0000-0001-8485-0106

Funding

NCTN BIQSFP ANBL1531 (NRT)U10CA180886 · NCI · PUBLIC HEALTH INSTITUTE · PI Douglas S. Hawkins · 2014 to 2026
$390.6M
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
COG SDMC - Statistics CoreU10CA180899 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TODD A ALONZO · 2014 to 2026
$132.8M
Mach-LETSGO: Machine-LEarning of Treatment, Survey, and Genetics towards Obtaining Correct Classification of Chronic Conditions in Adult Survivors in the Childhood Cancer Survivor Study - CCSS SupplU24CA055727 · NCI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI Gregory Armstrong · 1999 to 2026
$96.7M
COG U24 Funding 2026-2027U24CA196173 · NCI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI Mignon Lee-Cheun Loh, Nilsa Del Carmen Ramirez Milan · 2015 to 2026
$62.5M
PROJECT 3: Applying Liquid Biopsy Technologies to Detect Clinical Response and Mechanisms of Resistance in the Treatment of LMSP50CA272170 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI JUDY E. GARBER · 2022 to 2026
$13.3M
American Lebanese-Syrian Associated CharitiesCancer Prevention and Research Institute of Texas RP160771Cancer Prevention and Research Institute of Texas RP210064Children's Oncology GroupCOG Biospecimen Bank Grant U24CA196173Intramural Research Program of the National Institutes of HealthNCI NIH HHS CA55727NCI NIH HHS P30 CA021765NCI NIH HHS P50 CA272170NCI NIH HHS U10 CA180886NCI NIH HHS U10 CA180899NCI NIH HHS U24 CA055727NCI NIH HHS U24 CA196173NCTN Operations Center Grant U10CA180886NCTN Statistics & Data Center Grant U10CA180899St Jude Children's Research Hospital also provided by the Cancer Center Support CA21765The Childhood Cancer Survivor Study is a US National Cancer Institute-funded resource U24 CA55727
6 · The paper itself

Abstract

Osteosarcoma, the most common childhood bone tumor, can occur in rare cancer predisposition syndromes; however, most are sporadic with no known predisposing factors. We investigated the frequency of SMARCAL1 putative pathogenic variants in our large ongoing study of 2119 osteosarcoma patients, their relation to patient characteristics, and the population prevalence. Our analysis uncovered a higher frequency of SMARCAL1 pathogenic variants across 3 osteosarcoma patient sets (1.8%, n = 2119) than in 2625 comparably sequenced cancer-free individuals (0.3%; P < .001). Patients with SMARCAL1 pathogenic variants had statistically significantly improved overall survival compared with patients without these variants (hazard ratio [HR] = 0.36, 95% confidence interval [CI] = 0.14 to 0.96; P = .034). In the UK Biobank (469 557 exomes), there was a 33-fold increased risk of osteosarcoma in individuals with SMARCAL1 pathogenic variants. These results identify SMARCAL1 as a new osteosarcoma predisposition gene and thus warrant follow-up to identify the mechanisms by which SMARCAL1 contributes to the etiology of osteosarcoma.

Indexed as

Bone NeoplasmsDNA HelicasesGenetic Predisposition to DiseaseOsteosarcomaAdolescentAdultChildFemaleHumansMaleMiddle AgedYoung AdultDNA HelicasesSMARCAL1 protein, human

Identifiers

PMID40996338
PMCPMC12702491

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