Fanconi anemia complementation group M


Gene Symbol: Fanconi anemia complementation group M
Description: Fanconi anemia complementation group M
Alias: FAAP250, KIAA1596, Fanconi anemia group M protein, ATP-dependent RNA helicase FANCM, fanconi anemia-associated polypeptide of 250 kDa, protein Hef ortholog
Species: human

Top Publications

  1. Mosedale G, Niedzwiedz W, Alpi A, Perrina F, Pereira Leal J, Johnson M, et al. The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. Nat Struct Mol Biol. 2005;12:763-71 pubmed
    ..This discovery sheds light on the origins, regulation and molecular function of the FA tumor-suppressor pathway in the maintenance of genome stability. ..
  2. Ali A, Pradhan A, Singh T, Du C, Li J, Wahengbam K, et al. FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. Blood. 2012;119:3285-94 pubmed publisher
    ..These findings reveal critical roles for FAAP20 in the FA-BRCA pathway of DNA damage repair and genome maintenance. ..
  3. Hoadley K, Xue Y, Ling C, Takata M, Wang W, Keck J. Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. Proc Natl Acad Sci U S A. 2012;109:4437-42 pubmed publisher
    ..This study provides a molecular view of the RMI/FANCM complex and highlights a key interface utilized in coordinating the activities of two critical eukaryotic DNA-damage repair machines. ..
  4. Ling C, Ishiai M, Ali A, Medhurst A, Neveling K, Kalb R, et al. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. EMBO J. 2007;26:2104-14 pubmed
    ..Our study identifies FAAP100 as a new critical component of the FA-BRCA DNA damage response network. ..
  5. Gari K, Décaillet C, Stasiak A, Stasiak A, Constantinou A. The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks. Mol Cell. 2008;29:141-8 pubmed publisher
    ..6 kb of DNA. Our data suggest a direct role for FANCM in DNA processing, consistent with the current view that FA proteins coordinate DNA repair at stalled replication forks. ..
  6. Collis S, Ciccia A, Deans A, Horejsi Z, Martin J, Maslen S, et al. FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. Mol Cell. 2008;32:313-24 pubmed publisher
    ..Our data suggest that DNA damage recognition and remodeling activities of FANCM and FAAP24 cooperate with ATR/Chk1 to promote efficient activation of DNA damage checkpoints. ..
  7. Kim J, Kee Y, Gurtan A, D Andrea A. Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24. Blood. 2008;111:5215-22 pubmed publisher
    ..Dysregulated loading of the FA core complex accounts, at least in part, for the characteristic cellular and developmental abnormalities in FA. ..
  8. Xue Y, Li Y, Guo R, Ling C, Wang W. FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair. Hum Mol Genet. 2008;17:1641-52 pubmed publisher
    ..These data are consistent with participation of FANCM and its associated FA core complex in the FA pathway at both signaling through monoubiquitination and the ensuing DNA repair. ..
  9. Yan Z, Delannoy M, Ling C, Daee D, Osman F, Muniandy P, et al. A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. Mol Cell. 2010;37:865-78 pubmed publisher
    ..Thus, FANCM-MHF is an essential DNA-remodeling complex that protects replication forks from yeast to human. ..

More Information

Publications106 found, 100 shown here

  1. Singh T, Saro D, Ali A, Zheng X, Du C, Killen M, et al. MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. Mol Cell. 2010;37:879-86 pubmed publisher
    ..These findings reveal critical roles of the MHF1-MHF2 dimer in DNA damage repair and genome maintenance through FANCM. ..
  2. Blackford A, Schwab R, Nieminuszczy J, Deans A, West S, Niedzwiedz W. The DNA translocase activity of FANCM protects stalled replication forks. Hum Mol Genet. 2012;21:2005-16 pubmed publisher
    ..Taken together, these data show that FANCM plays an essential role in maintaining chromosomal integrity by promoting the recovery of stalled replication forks and hence preventing tumourigenesis. ..
  3. Meetei A, Medhurst A, Ling C, Xue Y, Singh T, Bier P, et al. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet. 2005;37:958-63 pubmed
    ..Here we show that another component of this complex, FAAP250, is mutant in individuals with Fanconi anemia of a new complementation group (FA-M)...
  4. Wang Y, Leung J, Jiang Y, Lowery M, Do H, Vasquez K, et al. FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions. Mol Cell. 2013;49:997-1009 pubmed publisher
    ..Our data suggest that FANCM and FAAP24 play multiple, while not fully epistatic, roles in maintaining genomic integrity. ..
  5. Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei A, et al. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell. 2007;25:331-43 pubmed
    ..Our data indicate that the FANCM/FAAP24 complex may play a key role in recruitment of the FA core complex to damaged DNA. ..
  6. Tao Y, Jin C, Li X, Qi S, Chu L, Niu L, et al. The structure of the FANCM-MHF complex reveals physical features for functional assembly. Nat Commun. 2012;3:782 pubmed publisher
    ..These findings reveal the molecular basis of MHF-FANCM recognition and provide mechanistic insights into the pathway leading to Fanconi anaemia. ..
  7. Huang M, Kim J, Shiotani B, Yang K, Zou L, D Andrea A. The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response. Mol Cell. 2010;39:259-68 pubmed publisher
    ..Therefore, we propose that FANCM/FAAP24 plays a role in ICL-induced checkpoint activation through regulating RPA recruiment at ICL-stalled replication forks. ..
  8. Deans A, West S. FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. Mol Cell. 2009;36:943-53 pubmed publisher
    ..Moreover, a common phenotype of BS and FA cells-an elevated frequency of sister chromatid exchanges-was due to a loss of interaction of the two complexes through FANCM. ..
  9. Yan Z, Guo R, Paramasivam M, Shen W, Ling C, Fox D, et al. A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network. Mol Cell. 2012;47:61-75 pubmed publisher
    ..Thus, the RNF8-FAAP20 ubiquitin cascade is critical for recruiting FA core complex to ICLs and for normal function of the FA network. ..
  10. Garcia Luis J, Machin F. Fanconi Anaemia-Like Mph1 Helicase Backs up Rad54 and Rad5 to Circumvent Replication Stress-Driven Chromosome Bridges. Genes (Basel). 2018;9: pubmed publisher
    ..Based on these interactions, we suggest that Mph1 acts coordinately with these helicases in the non-canonical HR-driven fork regression mechanism to bypass stalled replication forks. ..
  11. Yin H, Ma H, Hussain S, Zhang H, Xie X, Jiang L, et al. A homozygous FANCM frameshift pathogenic variant causes male infertility. Genet Med. 2019;21:62-70 pubmed publisher
    ..These findings revealed male infertility to be a novel phenotype of human patients with a biallelic FANCM PV. ..
  12. Recker J, Knoll A, Puchta H. The Arabidopsis thaliana homolog of the helicase RTEL1 plays multiple roles in preserving genome stability. Plant Cell. 2014;26:4889-902 pubmed publisher
    ..The requirement for RTEL1 in multiple pathways to preserve genome stability in plants can be explained by its putative role in the destabilization of DNA loop structures, such as D-loops and T-loops. ..
  13. Mieulet D, Aubert G, Brès C, Klein A, Droc G, Vieille E, et al. Unleashing meiotic crossovers in crops. Nat Plants. 2018;4:1010-1016 pubmed publisher
    ..Enhanced recombination could be used with other state-of-the-art technologies such as genomic selection, genome editing or speed breeding6 to enhance the pace and efficiency of plant improvement. ..
  14. Girard C, Chelysheva L, Choinard S, Froger N, Macaisne N, Lemhemdi A, et al. AAA-ATPase FIDGETIN-LIKE 1 and Helicase FANCM Antagonize Meiotic Crossovers by Distinct Mechanisms. PLoS Genet. 2015;11:e1005369 pubmed publisher
  15. Stoepker C, Faramarz A, Rooimans M, van Mil S, Balk J, Velleuer E, et al. DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. DNA Repair (Amst). 2015;26:54-64 pubmed publisher
    ..We identified the DNA helicases FANCM and DDX11 as determinants of PARP inhibitor response. These results may extend the utility of PARP inhibition as effective anticancer treatment. ..
  16. Zhi G, Wilson J, Chen X, Krause D, Xiao Y, Jones N, et al. Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. Cancer Res. 2009;69:8775-83 pubmed publisher
    ..In vitro and in vivo experiments show that phosphorylation of S331 is mediated by CHK1, the S-phase checkpoint kinase implicated in the Fanconi anemia DNA repair pathway. ..
  17. Sommers J, Suhasini A, Brosh R. Protein degradation pathways regulate the functions of helicases in the DNA damage response and maintenance of genomic stability. Biomolecules. 2015;5:590-616 pubmed publisher
    ..Collectively, these studies demonstrate that helicases can be targeted for degradation to maintain genome homeostasis. ..
  18. Kleibl Z, Kristensen V. Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management. Breast. 2016;28:136-44 pubmed publisher
  19. Bonache S, Esteban I, Moles Fernández A, Tenés A, Duran Lozano L, Montalban G, et al. Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. J Cancer Res Clin Oncol. 2018;144:2495-2513 pubmed publisher
    ..The multigene panel usage improves the diagnostic yield in HBOC testing and it is an effective tool to identify potentially new candidate genes. ..
  20. Song L. A possible approach for stem cell gene therapy of Fanconi anemia. Curr Gene Ther. 2009;9:26-32 pubmed
    ..Several related observations and experiments are discussed to support this possible means of stem cell gene therapy of Fanconi anemia. ..
  21. Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, et al. A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy. Breast. 2018;38:92-97 pubmed publisher
    ..The inclusion of FANCM in gene panels for research purpose would allow for the identification of a higher number of mutation carriers, thus helping estimate BC risk associated with FANCM mutations. ..
  22. Kuo H, McMahan S, Rota C, Kohl K, Sekelsky J. Drosophila FANCM helicase prevents spontaneous mitotic crossovers generated by the MUS81 and SLX1 nucleases. Genetics. 2014;198:935-45 pubmed publisher
    ..Since Fancm mutants can tolerate loss of a single resolvase, we were able to show that spontaneous mitotic crossovers that occur when FANCM is missing are dependent on MUS312 and either MUS81 or SLX1. ..
  23. Sugahara R, Mon H, Lee J, Shiotsuki T, Kusakabe T. Differential contribution of the Fanconi anemia-related proteins to repair of several types of DNA damage in cultured silkworm cells. FEBS Lett. 2014;588:3959-63 pubmed publisher
    ..We also found that Rad51-knockdown cells exhibited normal sensitivity to HU despite induction of double-strand breaks by HU treatment. ..
  24. Wang H, Li S, Oaks J, Ren J, Li L, Wu X. The concerted roles of FANCM and Rad52 in the protection of common fragile sites. Nat Commun. 2018;9:2791 pubmed publisher
  25. Lestini R, Delpech F, Myllykallio H. DNA replication restart and cellular dynamics of Hef helicase/nuclease protein in Haloferax volcanii. Biochimie. 2015;118:254-63 pubmed publisher
  26. Kim H, Beese Sims S, COLAIACOVO M. Fanconi Anemia FANCM/FNCM-1 and FANCD2/FCD-2 Are Required for Maintaining Histone Methylation Levels and Interact with the Histone Demethylase LSD1/SPR-5 in Caenorhabditis elegans. Genetics. 2018;209:409-423 pubmed publisher
    ..Our study reveals a connection between FA and epigenetic maintenance and therefore provides new mechanistic insight into the regulation of histone methylation in DNA repair. ..
  27. Nguyen Dumont T, Myszka A, Karpinski P, Sasiadek M, Akopyan H, Hammet F, et al. FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine. BMC Med Genet. 2018;19:12 pubmed publisher
    ..Continued screening, both in research and diagnostic settings, will enable the accumulation of data that is needed to establish the clinical utility of including RECQL and FANCM on gene panel tests. ..
  28. Luo Y, Hartford S, Zeng R, Southard T, Shima N, Schimenti J. Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signaling. PLoS Genet. 2014;10:e1004471 pubmed publisher
    ..Progressive loss of germ cells in adult males also occurs, overlaid with an elevated level of meiotic DNA damage. Genetic studies indicated that ATM-p53-p21 signaling is partially responsible for the germ cell deficiency. ..
  29. Bogliolo M, Surrallés J. Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. Curr Opin Genet Dev. 2015;33:32-40 pubmed publisher
    ..Newly acquired knowledge about FA promises to provide therapeutic strategies in the near future. ..
  30. Rendeková J, Ward T, Simonicova L, Thomas P, Nosek J, Tomaska L, et al. Mgm101: A double-duty Rad52-like protein. Cell Cycle. 2016;15:3169-3176 pubmed
  31. Schayek H, Korach H, Laitman Y, Bernstein Molho R, Friedman E. Mutational analysis of candidate genes in Israeli male breast cancer cases. Breast Cancer Res Treat. 2018;170:399-404 pubmed publisher
    ..9%) carried the p.S428F *CHEK2 mutation. None was a carrier of the other genotyped mutations in CHEK2, FANCM or RAD51D. BRCA1, BRCA2 and CHEK2 germline mutations contribute to inherited predisposition to MBC in Israel. ..
  32. Vuono E, Mukherjee A, Vierra D, Adroved M, Hodson C, Deans A, et al. The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair. Sci Rep. 2016;6:36439 pubmed publisher
    ..Finally, via epistasis analysis, we demonstrate that PTEN and FANCD2 function cooperatively in ICL repair. ..
  33. Mankouri H, Ngo H, Hickson I. Esc2 and Sgs1 act in functionally distinct branches of the homologous recombination repair pathway in Saccharomyces cerevisiae. Mol Biol Cell. 2009;20:1683-94 pubmed publisher
    ..not sgs1) mutants is entirely dependent on Mph1, a protein that shows structural similarity to the Fanconi anemia group M protein (FANCM)...
  34. Lorenz A, Osman F, Sun W, Nandi S, Steinacher R, Whitby M. The fission yeast FANCM ortholog directs non-crossover recombination during meiosis. Science. 2012;336:1585-8 pubmed publisher
    ..We show that Fml1, the Fanconi anemia complementation group M (FANCM)-ortholog of Schizosaccharomyces pombe, directs the formation of NCOs during meiosis in ..
  35. Luo Y, Schimenti J. MCM9 deficiency delays primordial germ cell proliferation independent of the ATM pathway. Genesis. 2015;53:678-84 pubmed publisher
    ..genesis 53:678-684, 2015. © 2015 Wiley Periodicals, Inc. ..
  36. Castella M, Jacquemont C, Thompson E, Yeo J, Cheung R, Huang J, et al. FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2. PLoS Genet. 2015;11:e1005563 pubmed publisher
    ..These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway. ..
  37. Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes A, et al. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. Am J Hum Genet. 2018;103:200-212 pubmed publisher
    ..Compound heterozygous loss-of-function (LoF) variants in FANCM (Fanconi anemia complementation group M) were detected as the most likely cause for their condition...
  38. Lorenz A, Mehats A, Osman F, Whitby M. Rad51/Dmc1 paralogs and mediators oppose DNA helicases to limit hybrid DNA formation and promote crossovers during meiotic recombination. Nucleic Acids Res. 2014;42:13723-35 pubmed publisher
  39. Séguéla Arnaud M, Crismani W, Larchevêque C, Mazel J, Froger N, Choinard S, et al. Multiple mechanisms limit meiotic crossovers: TOP3α and two BLM homologs antagonize crossovers in parallel to FANCM. Proc Natl Acad Sci U S A. 2015;112:4713-8 pubmed publisher
    ..Furthermore, this work demonstrates how manipulating a few genes holds great promise for increasing recombination frequency in plant-breeding programs. ..
  40. Xue X, Papusha A, Choi K, Bonner J, Kumar S, Niu H, et al. Differential regulation of the anti-crossover and replication fork regression activities of Mph1 by Mte1. Genes Dev. 2016;30:687-99 pubmed publisher
    ..We further show that the influence of Mte1 on Mph1 activities requires its binding to Mph1 and DNA. Thus, Mte1 differentially regulates Mph1 activities to achieve distinct outcomes in recombination and replication fork repair. ..
  41. Schwab R, Nieminuszczy J, Shah F, Langton J, Lopez Martinez D, Liang C, et al. The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription. Mol Cell. 2015;60:351-61 pubmed publisher
    ..Failure to activate a response to physiologically occurring DNA:RNA hybrids may critically contribute to the heightened cancer predisposition and bone marrow failure of individuals with mutated FA proteins. ..
  42. Voter A, Manthei K, Keck J. A High-Throughput Screening Strategy to Identify Protein-Protein Interaction Inhibitors That Block the Fanconi Anemia DNA Repair Pathway. J Biomol Screen. 2016;21:626-33 pubmed publisher
    ..Observation of direct binding by this small molecule validates the screening protocol. ..
  43. Mehta A, Beach A, Haber J. Homology Requirements and Competition between Gene Conversion and Break-Induced Replication during Double-Strand Break Repair. Mol Cell. 2017;65:515-526.e3 pubmed publisher
    ..With short second-end homology, absence of the RecQ helicase Sgs1 promotes gene conversion, whereas deletion of the FANCM-related Mph1 helicase promotes BIR. ..
  44. Takada M, Nagai S, Haruta M, Sugino R, Tozuka K, Takei H, et al. BRCA1 alterations with additional defects in DNA damage response genes may confer chemoresistance to BRCA-like breast cancers treated with neoadjuvant chemotherapy. Genes Chromosomes Cancer. 2017;56:405-420 pubmed publisher
    ..037, 0.045, 0.038, 0.044, 0.041, or 0.019) than those without. These defects may confer chemoresistance and predict poor outcomes in patients with BRCA1-altered breast cancer. ..
  45. Romero N, Matson S, Sekelsky J. Biochemical Activities and Genetic Functions of the Drosophila melanogaster Fancm Helicase in DNA Repair. Genetics. 2016;204:531-541 pubmed
  46. Chang L, Ren R, Yang W, Zhang J, Wan Y, Liu T, et al. [Association between clinical outcome and gene mutation in children with Fanconi anemia]. Zhongguo Dang Dai Er Ke Za Zhi. 2016;18:742-5 pubmed
    ..Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible. ..
  47. Kiiski J, Tervasmäki A, Pelttari L, Khan S, Mantere T, Pylkäs K, et al. FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population. Breast Cancer Res Treat. 2017;166:217-226 pubmed publisher
    ..4025_4026delCT carrier and no c.5293dupA carriers were observed. These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer. ..
  48. Hu C, Hart S, Bamlet W, Moore R, Nandakumar K, Eckloff B, et al. Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. Cancer Epidemiol Biomarkers Prev. 2016;25:207-11 pubmed publisher
    ..These findings highlight the need for recommendations governing germline gene-panel testing of patients with pancreatic cancer. ..
  49. Chaudhury I, Koepp D. Degradation of Mrc1 promotes recombination-mediated restart of stalled replication forks. Nucleic Acids Res. 2017;45:2558-2570 pubmed publisher
    ..Together, these studies provide new mechanistic insights into how cells recover from activation of the S-phase checkpoint. ..
  50. Lafuente Barquero J, Luke Glaser S, Graf M, Silva S, Gómez González B, Lockhart A, et al. The Smc5/6 complex regulates the yeast Mph1 helicase at RNA-DNA hybrid-mediated DNA damage. PLoS Genet. 2017;13:e1007136 pubmed publisher
    ..The data presented here support a model, where Mph1's helicase activity plays a crucial role in responding to persistent RNA-DNA hybrids. ..
  51. Wang Y, Wang J, Long F, Wang N, Zhang B, Han H, et al. Correlation of FANCM expression with clinical factors in luminal B breast cancer. Breast Cancer. 2018;25:431-437 pubmed publisher
    The genotype of Fanconi Anemia complementation group M (FANCM) was previously found to be associated with breast cancer risk in several populations...
  52. Alix Panabières C, Cayrefourcq L, Mazard T, Maudelonde T, Assenat E, Assou S. Molecular Portrait of Metastasis-Competent Circulating Tumor Cells in Colon Cancer Reveals the Crucial Role of Genes Regulating Energy Metabolism and DNA Repair. Clin Chem. 2017;63:700-713 pubmed publisher
    ..C-terminal helicase 1 (BRIP1), Fanconi anemia complementation group B (FANCB), Fanconi anemia complementation group M (FANCM)], and stemness [glutaminase 2 (GLS2), cystathionine-beta-synthase (CBS..
  53. Stafford J, Dyson G, Levin N, Chaudhry S, Rosati R, Kalpage H, et al. Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. PLoS ONE. 2017;12:e0178450 pubmed publisher
    ..In summary, our study implicates novel risk loci as well as highlights the clinical utility for retesting BRCA1/2 negative OVCA patients by genomic sequencing and analysis of genes in relevant pathways. ..
  54. Pan X, Drosopoulos W, Sethi L, Madireddy A, Schildkraut C, Zhang D. FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres. Proc Natl Acad Sci U S A. 2017;114:E5940-E5949 pubmed publisher
    ..We propose that these synthetic lethal interactions can be explored for targeting the ALT cancers. ..
  55. Trubicka J, Żemojtel T, Hecht J, Falana K, Piekutowska Abramczuk D, Płoski R, et al. The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies. BMC Cancer. 2017;17:239 pubmed publisher
    ..The data suggest that patients with DNA repair gene variants could need special vigilance during and after courses of chemotherapy. ..
  56. Slavin T, Neuhausen S, Nehoray B, Niell Swiller M, Solomon I, Rybak C, et al. The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. Fam Cancer. 2018;17:235-245 pubmed publisher
    ..Future pancreatic cancer predisposition studies should include evaluation of the Fanconi anemia genes. ..
  57. Stoepker C, Ameziane N, van der Lelij P, Kooi I, Oostra A, Rooimans M, et al. Defects in the Fanconi Anemia Pathway and Chromatid Cohesion in Head and Neck Cancer. Cancer Res. 2015;75:3543-53 pubmed publisher
    ..Inactivation of known Fanconi anemia and chromatid cohesion genes does explain CIN in the minority of cases. These findings point to phenotypes that may be highly relevant in treatment response of HNSCC. ..
  58. Silva S, Altmannova V, Luke Glaser S, Henriksen P, Gallina I, Yang X, et al. Mte1 interacts with Mph1 and promotes crossover recombination and telomere maintenance. Genes Dev. 2016;30:700-17 pubmed publisher
    ..Taken together, our data indicate that Mte1 plays a role in regulation of crossover recombination, response to replication stress, and telomere maintenance. ..
  59. Kiiski J, Pelttari L, Khan S, Freysteinsdottir E, Reynisdottir I, Hart S, et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci U S A. 2014;111:15172-7 pubmed publisher
    ..2% of ovarian cancer patients (from Helsinki), and 1.4% and 2.5% of controls. These findings identify FANCM as a breast cancer susceptibility gene, mutations in which confer a particularly strong predisposition for TNBC. ..
  60. Fox D, Yan Z, Ling C, Zhao Y, Lee D, Fukagawa T, et al. The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability. Cell Res. 2014;24:560-75 pubmed publisher
  61. Broderick P, Dobbins S, Chubb D, Kinnersley B, Dunlop M, Tomlinson I, et al. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. Gastroenterology. 2017;152:75-77.e4 pubmed publisher
    ..We urge the research community to adopt rigorous statistical and biological approaches coupled with independent replication before making claims of pathogenicity. ..
  62. Grainger A, Jones M, Chen M, Shi W. Polygenic Control of Carotid Atherosclerosis in a BALB/cJ × SM/J Intercross and a Combined Cross Involving Multiple Mouse Strains. G3 (Bethesda). 2017;7:731-739 pubmed publisher
    ..The correlations of carotid lesion sizes with non-HDL and HDL suggest that genetic factors exert effects on carotid atherosclerosis partially through modulation of lipoprotein homeostasis. ..
  63. Polito D, Cukras S, Wang X, Spence P, Moreau L, D Andrea A, et al. The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway. J Biol Chem. 2014;289:7003-10 pubmed publisher
    ..Intriguingly, ectopic expression of the FANCE C terminus fragment alone in FA normal cells disrupts DNA repair, consolidating the importance of the FANCE-FANCD2 interaction in the DNA cross-link repair. ..
  64. Hallamies S, Pelttari L, Poikonen Saksela P, Jekunen A, Jukkola Vuorinen A, Auvinen P, et al. CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC Cancer. 2017;17:620 pubmed publisher
    ..781). No RAD51C, RAD51D, PALB2, or FANCM mutations were found. These data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population. ..
  65. Luke Glaser S, Luke B, Grossi S, Constantinou A. FANCM regulates DNA chain elongation and is stabilized by S-phase checkpoint signalling. EMBO J. 2010;29:795-805 pubmed publisher
    ..We propose that FANCM is a ringmaster in the response to replication stress by physically altering replication fork structures and by providing a tight link to S-phase checkpoint signalling. ..
  66. Ang J, Duffy S, Segovia R, Stirling P, Hieter P. Dosage Mutator Genes in Saccharomyces cerevisiae: A Novel Mutator Mode-of-Action of the Mph1 DNA Helicase. Genetics. 2016;204:975-986 pubmed publisher
    ..mutator phenotype 1), RRM3, UBP12, PIF1, and DNA2 We show that, for MPH1, the yeast homolog of Fanconi Anemia complementation group M (FANCM), the overexpression mutator phenotype is distinct from that of mph1?...
  67. Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d Enghien C, et al. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genet Med. 2018;20:458-463 pubmed publisher
    ..ConclusionLoss-of-function mutations in FANCM cause a cancer predisposition syndrome clinically distinct from bona fide FA. Care should be taken with chemotherapy and radiation treatments in these patients due to expected acute toxicity. ..
  68. Pradhan A, Ustiyan V, Zhang Y, Kalin T, Kalinichenko V. Forkhead transcription factor FoxF1 interacts with Fanconi anemia protein complexes to promote DNA damage response. Oncotarget. 2016;7:1912-26 pubmed publisher
    ..These findings demonstrate that FoxF1 is a key component of FA complexes and a critical mediator of DNA damage response in tumor cells. ..
  69. Jang S, Jung J, Kim J. Replication Protein A (RPA) deficiency activates the Fanconi anemia DNA repair pathway. Cell Cycle. 2016;15:2336-45 pubmed publisher
    ..Taken together, these results indicate that RPA deficiency induces activation of the FA pathway in an ATR-dependent manner, which may play a role in the genome maintenance. ..
  70. Kiiski J, Fagerholm R, Tervasmäki A, Pelttari L, Khan S, Jamshidi M, et al. FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome. Int J Cancer. 2016;139:2760-2770 pubmed publisher
    ..5101C?>?T carriers have reduced PAR-activity. Our results suggest that FANCM c.5101C?>?T nonsense mutation carriers have a reduced breast cancer survival but postoperative radiotherapy may diminish this survival disadvantage. ..
  71. Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, et al. A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. elife. 2017;6: pubmed publisher
    ..This mutation may provoke meiotic defects leading to a depleted follicular stock, as in Fancm-/- mice. Our findings document the first Mendelian phenotype due to a biallelic FANCM mutation. ..
  72. Gao D, Inuzuka H, Tan M, Fukushima H, Locasale J, Liu P, et al. mTOR drives its own activation via SCF(?TrCP)-dependent degradation of the mTOR inhibitor DEPTOR. Mol Cell. 2011;44:290-303 pubmed publisher
  73. Fernandes J, Seguela Arnaud M, Larchevêque C, Lloyd A, Mercier R. Unleashing meiotic crossovers in hybrid plants. Proc Natl Acad Sci U S A. 2018;115:2431-2436 pubmed publisher
    ..The massive increase in recombination observed in recq4 figl1 hybrids opens the possibility of manipulating recombination to enhance plant breeding efficiency. ..
  74. Singh T, Ali A, Paramasivam M, Pradhan A, Wahengbam K, Seidman M, et al. ATR-dependent phosphorylation of FANCM at serine 1045 is essential for FANCM functions. Cancer Res. 2013;73:4300-10 pubmed publisher
    ..Overall, our data suggest that an ATR-FANCM feedback loop is present in the FA and replication stress response pathways and that it is required for both efficient ATR/CHK1 checkpoint activation and FANCM function. ..
  75. Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller C, et al. Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol. 2017;3:1245-1248 pubmed publisher
    ..Larger studies are required to determine age-dependent disease risks for BC and to assess a potential role of FANCM mutations in OC pathogenesis. ..
  76. Barroso E, Pita G, Arias J, Menendez P, Zamora P, Blanco M, et al. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. Breast Cancer Res Treat. 2009;118:655-60 pubmed publisher
    ..Sub-group analyses revealed associations between SNPs on FANCI and ATM and nodal metastasis status and between FANCJ/BRIP1 and FANCN/PALB2 and PR- status. ..
  77. Huang M, Kennedy R, Ali A, Moreau L, Meetei A, D Andrea A, et al. Human MutS and FANCM complexes function as redundant DNA damage sensors in the Fanconi Anemia pathway. DNA Repair (Amst). 2011;10:1203-12 pubmed publisher
    ..Further, MSH2 was co-purified and co-immunoprecipitated with FA core complex components. Taken together, our results suggest that human MutS homologs and FANCM complexes function as redundant DNA damage sensors of the FA pathway. ..
  78. Zhao Q, Saro D, Sachpatzidis A, Singh T, Schlingman D, Zheng X, et al. The MHF complex senses branched DNA by binding a pair of crossover DNA duplexes. Nat Commun. 2014;5:2987 pubmed publisher
    ..These results offer insights into how the MHF complex recognizes branched DNA and stimulates FANCM activity at such a structure to promote genome maintenance. ..
  79. Yang H, Zhang T, Tao Y, Wang F, Tong L, Ding J. Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair. Nucleic Acids Res. 2013;41:10573-83 pubmed publisher
    ..These results reveal the mechanistic insights into the functions of FANCM-FAAP24 in DNA repair. ..
  80. Huang Y, Leung J, Lowery M, Matsushita N, Wang Y, Shen X, et al. Modularized functions of the Fanconi anemia core complex. Cell Rep. 2014;7:1849-57 pubmed publisher
    ..Our work reveals the roles of several FA gene products with previously undefined functions and a modularized assembly of the FA core complex. ..
  81. Singh T, Bakker S, Agarwal S, Jansen M, Grassman E, Godthelp B, et al. Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. Blood. 2009;114:174-80 pubmed publisher
    ..Because both mutants restored the formation of FANCD2 foci, we conclude that FANCM functions in an FA core complex-dependent and -independent manner. ..
  82. Huang J, Liu S, Bellani M, Thazhathveetil A, Ling C, de Winter J, et al. The DNA translocase FANCM/MHF promotes replication traverse of DNA interstrand crosslinks. Mol Cell. 2013;52:434-46 pubmed publisher
    ..The results indicate that translocase-based mechanisms enable DNA synthesis to continue past ICLs and that these lesions are not always absolute blocks to replication. ..
  83. Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, et al. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. 2015;24:5345-55 pubmed publisher
    ..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. ..
  84. Garcia M, Fernandez V, Osorio A, Barroso A, Fernandez F, Urioste M, et al. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis. 2009;30:1898-902 pubmed publisher
    ..Our results rule out a major role of FANCI, FANCL and FANCM in familial breast cancer susceptibility, suggesting that among the 13 known FA genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. ..
  85. Sundaravinayagam D, Kim H, Wu T, Kim H, Lee H, Jun S, et al. miR146a-mediated targeting of FANCM during inflammation compromises genome integrity. Oncotarget. 2016;7:45976-45994 pubmed publisher
    ..These results suggest that undesired inflammation events caused by a pathogen or over-induction of miR146a can impair genome integrity via suppression of FANCM. ..
  86. Daee D, Ferrari E, Longerich S, Zheng X, Xue X, Branzei D, et al. Rad5-dependent DNA repair functions of the Saccharomyces cerevisiae FANCM protein homolog Mph1. J Biol Chem. 2012;287:26563-75 pubmed publisher
    ..These studies reveal the functional conservation of the FA pathway and validate the yeast model for future studies to further elucidate the mechanism of the FA pathway. ..
  87. Daschkey S, Bienemann K, Schuster V, Kreth H, Linka R, Hönscheid A, et al. Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24. J Clin Immunol. 2016;36:684-92 pubmed publisher
    ..8. This is the first report of an FAAP24 loss of function mutation found in human patients with EBV-associated lymphoproliferation. ..
  88. Medhurst A, Laghmani E, Steltenpool J, Ferrer M, Fontaine C, de Groot J, et al. Evidence for subcomplexes in the Fanconi anemia pathway. Blood. 2006;108:2072-80 pubmed
  89. Rohleder F, Huang J, Xue Y, Kuper J, Round A, Seidman M, et al. FANCM interacts with PCNA to promote replication traverse of DNA interstrand crosslinks. Nucleic Acids Res. 2016;44:3219-32 pubmed publisher
  90. Rashid M, Muhammad N, Khan F, Hamann U. Absence of the FANCM c.5101C>T mutation in BRCA1/2-negative triple-negative breast cancer patients from Pakistan. Breast Cancer Res Treat. 2015;152:229-230 pubmed publisher
  91. Zafar F, Okita A, Onaka A, Su J, Katahira Y, Nakayama J, et al. Regulation of mitotic recombination between DNA repeats in centromeres. Nucleic Acids Res. 2017;45:11222-11235 pubmed publisher
    ..These data for the first time uncovered the regulation of mitotic recombination between DNA repeats in centromeres and its physiological role in maintaining genome integrity. ..