ArticleHuman molecular genetics2015
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Open access · bronzeAbstract read
In one paragraph
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 2 pooled it
7.5field-weighted citation impact, top 2% of its field
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.
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.
Who cites it
59 citing papers in PubMed, 2 syntheses or guidelines pooled it, 93 citations in OpenAlex.
- FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.European journal of human genetics : EJHG · 2023Pooled it
- Pooled it
- Rare loss of function variants in candidate genes and risk of colorectal cancer.Human genetics · 2018Trial
- Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.NPJ breast cancer · 2026Article
- Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.JCO precision oncology · 2026Article
- Association of Genetic Risk Variants in SETBP1, FANCM, and LSP1 with Familial Breast Cancer in the Pakistani Pashtun Population.Pakistan journal of medical sciences · 2025Article
- Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.Nature communications · 2025Article
- Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.Cancer reports (Hoboken, N.J.) · 2025Article
- STIL facilitates the development and malignant progression of triple-negative breast cancer through activation of Fanconi anemia pathway via interacting with KLF16.Translational oncology · 2024Article
- Escaping from CRISPR-Cas-mediated knockout: the facts, mechanisms, and applications.Cellular & molecular biology letters · 2024Review
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.Blood advances · 2023Article
- Spectrum and Frequency of GermlineCancers · 2023Article
- Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.International journal of molecular sciences · 2023Article
- CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.Cancers · 2022Article
- Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.NPJ breast cancer · 2021Article
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
- Article
- FANCM regulates repair pathway choice at stalled replication forks.Molecular cell · 2021Article
- Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.Genes, chromosomes & cancer · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
99 authors at 20 institutions in 12 countries.
Paolo PeterlongoIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, paolo.peterlongo@ifom.eu.
Irene CatucciIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
Mara ColomboUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
Laura CalecaUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
Eliseos MucakiDepartment of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Massimo BoglioloGenome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.
Maria MarinGenome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.
Francesca DamiolaCancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France.
Loris BernardDepartment of Experimental Oncology and Cogentech, Cancer Genetic Test Laboratory, Milan, Italy.
Valeria PensottiIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy.
Sara VolorioIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy.
Valentina Dall'OlioIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy.
Alfons MeindlDivision of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
Claus BartramInstitute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Christian SutterInstitute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Harald SurowyMolecular Biology of Breast Cancer, Department of Obstetrics and Gynecology, University Hospital Heidelberg, Heidelberg, Germany, Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Valérie SorninCancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France.
Marie-Gabrielle DondonINSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France.
Séverine Eon-MarchaisINSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France.
Dominique Stoppa-LyonnetService de Génétique Oncologique, Institut Curie, Paris, France, INSERM, U830, Paris, France, Université Paris-Descartes, Paris, France.
Nadine AndrieuINSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France.
Olga M SinilnikovaCancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France.
GENESIS
Gillian MitchellFamilial Cancer Centre, Sir Peter MacCallum Department of Oncology and.
Paul A JamesFamilial Cancer Centre, Sir Peter MacCallum Department of Oncology and.
Ella ThompsonCancer Genetics Laboratory and Sir Peter MacCallum Department of Oncology and.
kConFab
SWE-BRCA
Marina MarchettiDepartment of Immunohematology and Transfusion Medicine and.
Cristina VerzeroliKathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
Carmen TartariDepartment of Immunohematology and Transfusion Medicine and.
Gabriele Lorenzo CaponeDipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy.
Anna Laura PutignanoDipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy.
Maurizio GenuardiDipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy, Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University, Rome, Italy.
Veronica MediciDipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy.
Isabella MarchiDipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy.
Massimo FedericoDipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy.
Silvia TognazzoImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy.
Laura MatricardiImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy.
Simona AgataImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy.
Riccardo DolcettiCancer Bio-Immunotherapy Unit and.
Lara Della PuppaUnit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy.
Giulia CiniUnit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy.
Viviana GismondiUnit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy.
Valeria ViassoloUnit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy.
Chiara PerfumoUnit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy.
Maria Antonietta MencarelliMedical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Margherita BaldassarriMedical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Bernard PeisselUnit of Medical Genetics, Department of Preventive and Predictive Medicine.
Gaia RoversiUnit of Medical Genetics, Department of Preventive and Predictive Medicine.
Valentina SilvestriDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Piera RizzoloDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Francesca SpinaSC Medical Genetics, ASl8 Cagliari, Cagliari, Italy.
Caterina VivanetSC Medical Genetics, ASl8 Cagliari, Cagliari, Italy.
Maria Grazia TibilettiUnit of Pathology, Ospedale di Circolo, Varese, Italy.
Maria Adelaide CaligoSection of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.
Gaetana GambinoSection of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.
Stefania TommasiIRCCS Istituto Tumori 'Giovanni Paolo II', Molecular Genetics Laboratory, Bari, Italy.
Brunella PilatoIRCCS Istituto Tumori 'Giovanni Paolo II', Molecular Genetics Laboratory, Bari, Italy.
Carlo TondiniUnit of Medical Oncology, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.
Chiara CornaUnit of Medical Oncology, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Monica BarileDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Ana OsorioHuman Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain, Spanish Genotyping Centre (CEGEN), Madrid, Spain.
Javier BenitezHuman Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain, Spanish Genotyping Centre (CEGEN), Madrid, Spain.
Luisa BalestrinoSC Medical Genetics, ASl8 Cagliari, Cagliari, Italy.
Laura OttiniDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine.
Marco A PierottiScientific Directorate and.
Alessandra RenieriMedical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Liliana VarescoUnit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Xianshu WangDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Peter DevileeDepartment of Human Genetics, Department of Pathology and.
Florentine S HilbersDepartment of Human Genetics.
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Alessandra VielUnit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy.
Marco MontagnaImmunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy.
Laura CortesiDipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy.
Orland DiezOncogenetics Group, Hospital Universitari de la Vall d'Hebron, Barcelona, Spain, Vall d́Hebron Institute of Oncology (VHIO), Barcelona, Spain, Universitat Autònoma de Barcelona, Barcelona, Spain.
Judith BalmañaVall d́Hebron Institute of Oncology (VHIO), Barcelona, Spain, Department of Medical Oncology, Hospital Universitari de la Vall d́Hebron, Barcelona, Spain.
Jan HaukeCenter for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
Laura PapiDipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy.
Miguel Angel PujanaCatalan Institute of Oncology - IDIBELL, Barcelona, Spain.
Conxi LázaroCatalan Institute of Oncology - IDIBELL, Barcelona, Spain.
Anna FalangaDepartment of Immunohematology and Transfusion Medicine and.
Kenneth OffitClinical Genetics Service, Department of Medicine and Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Joseph VijaiClinical Genetics Service, Department of Medicine and Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ian CampbellCancer Genetics Laboratory and Sir Peter MacCallum Department of Oncology and Department of Pathology, University of Melbourne, Parkville, Victoria, Australia.
Barbara BurwinkelMolecular Biology of Breast Cancer, Department of Obstetrics and Gynecology, University Hospital Heidelberg, Heidelberg, Germany, Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Anders KvistDivision of Oncology, Department of Clinical Sciences.
Hans EhrencronaDepartment of Clinical Genetics, Laboratory Medicine, Office for Medical Services and Department of Clinical Genetics, Lund University, Lund, Sweden.
Sylvie MazoyerCancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France.
Sara PizzamiglioUnit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Paolo VerderioUnit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Jordi SurrallesGenome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.
Peter K RoganDepartment of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Paolo RadiceIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
University of Modena and Reggio Emilia · ITIFOM · ITPeter MacCallum Cancer Centre · AUIstituto Oncologico Veneto · ITUniversité Claude Bernard Lyon 1 · FRMemorial Sloan Kettering Cancer Center · USOspedale Policlinico San Martino · ITSpanish National Cancer Research Centre · ESUniversitat Autònoma de Barcelona · ESUniversity of Pisa · ITInserm · FRMayo Clinic in Arizona · USSapienza University of Rome · ITUniversity of Siena · ITWestern University · CAAzienda Ospedaliera Universitaria Senese · ITHeidelberg University · DEInstitut d'Investigació Biomédica de Bellvitge · ESIstituto Tumori Bari · ITLund University · SE
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MA genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8MIdentifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4MBRCA2 missense mutations and breast cancerR01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2007 to 2011
$3.0MBRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7MNCI NIH HHS CA116167NCI NIH HHS CA128978NCI NIH HHS CA176785NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA176785NCI NIH HHS U01 CA116167
Abstract
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
Indexed as
Alternative SplicingCodon, NonsenseDNA RepairExonsAdultAge of OnsetAllelesBinding SitesBreast NeoplasmsCase-Control StudiesDNA HelicasesDNA Mutational AnalysisFemaleGene ExpressionGene FrequencyGenetic Association StudiesCodon, NonsenseDNA HelicasesFANCM protein, humanHeterogeneous Nuclear Ribonucleoprotein A1Heterogeneous-Nuclear Ribonucleoprotein Group A-B
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.