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The BRCT Domain Is a Phospho-Protein Binding Domain

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BACH1, a Novel Helicase-like Protein, Interacts Directly with BRCA1 and Contributes to Its DNA Repair Function

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Cloning of cDNAs for Fanconi's anaemia by functional complementation

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A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

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Beyond the holy grail of motor symptoms: deep brain stimulation for Parkinson's disease

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The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations

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Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

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The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair

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Crosslinks and crosstalk

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Does a helicase activity help mismatch repair in eukaryotes?

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FANCJ at the FORK

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Mutational analysis of FANCJ helicase

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Concise Review: Getting to the Core of Inherited Bone Marrow Failures

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BLM’s balancing act and the involvement of FANCJ in DNA repair

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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

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Genetic variants in BRIP1 (BACH1) contribute to risk of nonsyndromic cleft lip with or without cleft palate

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Update on genetic predisposition to breast cancer

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L'anémie de Fanconi : aspects cellulaires et moléculaires

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FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability

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Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation

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Structure analysis of FAAP24 reveals single-stranded DNA-binding activity and domain functions in DNA damage response

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The role of BACH1 , BARD1 and TOPBP1 genes in familial breast cancer

Karppinen, S. (2009) · Cited by 11

Familial Breast Cancer Risk

Maxwell, K. N., & Domchek, S. M. (2013) · Current Breast Cancer Reports · doi:10.1007/s12609-013-0117-9 · Cited by 10

Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

Tsaousis, G., Papadopoulou, E., Αγιαννιτόπουλος, Κ., Pepe, G., Τσούλος, Ν., Boukovinas, I., Floros, T., Iosifidou, R., Katopodi, O., Koumarianou, A. A., et al. (2021) · Cancer Genomics & Proteomics · doi:10.21873/cgp.20304 · Cited by 11

Assembling an orchestra: Fanconi anemia pathway of repair

Yuan, F. (2010) · Frontiers in bioscience · doi:10.2741/3666 · Cited by 10

A review of radiation genomics: integrating patient radiation response with genomics for personalised and targeted radiation therapy

Xu, L., Osei, B., & Osei, E. K. (2018) · Journal of Radiotherapy in Practice · doi:10.1017/s1460396918000547 · Cited by 11

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility

Ren, L. P., Xian, Y. S., Diao, D., Chen, Y., Guo, Q. J., & Dang, C. (2013) · Genetics and Molecular Research · doi:10.4238/2013.november.22.6 · Cited by 10

Systematic investigation of BRCA1-A, -B, and -C complexes and their functions in DNA damage response and DNA repair

Li, S., Tang, M., Xiong, Y., Feng, X., Wang, C., Nie, L., Huang, M., Zhang, H., Yin, L., Zhu, D., et al. (2024) · Oncogene · doi:10.1038/s41388-024-03108-y · Cited by 10

A Protein Prioritization Approach Tailored for the FA/BRCA Pathway

Haitjema, A., Brandt, B. W., Ameziane, N., May, P., Heringa, J., de Winter, J. P., Joenje, H., & Dorsman, J. C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0062017 · Cited by 9

Chl1 DNA helicase and Scc2 function in chromosome condensation through cohesin deposition

Shen, D., & Skibbens, R. V. (2017) · PLoS ONE · doi:10.1371/journal.pone.0188739 · Cited by 10

Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population

Chen, F., Wang, H., Li, H., Hu, X., Dai, X., Wang, S.-M., Yan, G.-J., Jiang, P., Hu, Y., Huang, J., et al. (2018) · Technology in Cancer Research & Treatment · doi:10.1177/1533033818819841 · Cited by 9

Cancer in Fanconi Anemia and Fanconi Anemia Genes in Cancer

Neveling, K., Kalb, R., & Schindler, D. (2007) · KARGER eBooks · doi:10.1159/000102548 · Cited by 9

FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia

Pilonetto, D., Pereira, N. F., Bitencourt, M. A., Magdalena, N., Vieira, E., Veiga, L. B. A., Cavalli, I. J., Ribeiro, R. C., & Pasqüini, R. (2009) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2009000300004 · Cited by 9

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia

Yates, J. E., Keeble, W. W., Pals, G., Ameziane, N., van Spaendonk, R. M. L., Olson, S. B., Akkari, Y. M. N., Pasqüini, R., & Bagby, G. C. (2006) · Human Mutation · doi:10.1002/humu.9402 · Cited by 9

Loss of the Fanconi anemia–associated protein NIPA causes bone marrow failure

Kreutmair, S., Erlacher, M., Andrieux, G., Istvánffy, R., Rudorf, A., Zwick, M., Rückert, T., Pantić, M., Poggio, T., Shoumariyeh, K., et al. (2020) · Journal of Clinical Investigation · doi:10.1172/jci126215 · Cited by 9

Inherited Bone Marrow Failure Syndromes

Canham, L. E., & de Jong, J. L. O. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00131-1 · Cited by 10

Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia

Meyer, S., Barber, L. M., White, D. J., Will, A., Birch, J. M., Kohler, J., Ersfeld, K., Blom, E., Joenje, H., Eden, T. O. B., et al. (2006) · British Journal of Haematology · doi:10.1111/j.1365-2141.2006.05985.x · Cited by 9

Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets

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Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway

Abe, A., Imoto, I., Ueki, A., Nomura, H., & Kanao, H. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231911790 · Cited by 8

A DOG’s View of Fanconi Anemia: Insights fromC. elegans

Jones, M. R., & Rose, A. M. (2012) · Anemia · doi:10.1155/2012/323721 · Cited by 8

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Ali, A. B. H., Amouri, A., Sayeb, M., Makni, S. K., Hammami, W., Naouali, C., Dallali, H., Romdhane, L., Bashamboo, A., McElreavey, K., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.694 · Cited by 8

Impaired removal of DNA interstrand cross‐link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA‐defective group

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Identification, developmental expression and regulation of the Xenopus ortholog of human FANCG/XRCC9

Stone, S., Sobeck, A., van Kogelenberg, M., de Graaf, B., Joenje, H., Christian, J. L., & Hoatlin, M. E. (2007) · Genes to Cells · doi:10.1111/j.1365-2443.2007.01096.x · Cited by 8

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalitiesPreprint

Kamal, L., Pierce, S. B., Canavati, C., Rayyan, A. A., Jarayseh, T., Lobel, O., Lolas, S., Norquist, B. M., Rabie, G., Zahdeh, F., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005652 · Cited by 8

Chemo-Phosphoproteomic Profiling with ATR Inhibitors Berzosertib and Gartisertib Uncovers New Biomarkers and DNA Damage Response Regulators

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Iron–Sulfur Clusters: Assembly and Biological Roles

Maio, N. (2024) · Inorganics · doi:10.3390/inorganics12080216 · Cited by 8

Epidemiology of Breast Cancer

Smith, R. A., Brinton, L. A., Kramer, J. L., Jemal, A., & Desantis, C. E. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4160-5199-2.00002-3 · Cited by 7

The fanconi anemia pathway promotes homologous recombination repair in DT40 cell line

Takata, M., Yamamoto, K., Matsushita, N., Kitao, H., Hirano, S., & Ishaiai, M. (2006) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-1-4020-4896-8_17 · Cited by 7

ADN hélicases et maladies associées

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BRCA/Fanconi anemia pathway genes in hereditary predisposition to breast cancer

Sólyom, S. (2011) · Cited by 7

Hereditary predisposition to breast cancer – with a focus on AATF , MRG15 , PALB2 , and three Fanconi anaemia genes

Haanpää, M. K. (2014) · Cited by 6

C t IP ‐ and ATR ‐dependent FANCJ phosphorylation in response to DNA strand breaks mediated by DNA replication

Sakasai, R., Sakai, A., Iimori, M., Kiyonari, S., Matsuoka, K., Kakeji, Y., Kitao, H., & Maehara, Y. (2012) · Genes to Cells · doi:10.1111/gtc.12011 · Cited by 6

The Fanconi Anemia Pathway of DNA Repair and Human Cancer

Krishnan, V., Tay, L. S., & Ito, Y. (2015) · InTech eBooks · doi:10.5772/59995 · Cited by 7

Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls

Liu, D., Zheng, Y., Wang, M., Deng, Y., Lin, S., Zhou, L., Yang, P., Dai, C., Xu, P., Hao, Q., et al. (2018) · Aging · doi:10.18632/aging.101388 · Cited by 7

Coregulation of FANCA and BRCA1 in human cells

Haitjema, A., Mol, B. M., Kooi, I. E., Massink, M. P. G., Jørgensen, J. A., Rockx, D., Rooimans, M. A., de Winter, J. P., Meijers-Heijboer, H. E. J., Joenje, H., et al. (2014) · SpringerPlus · doi:10.1186/2193-1801-3-381 · Cited by 7

Fanconi anemia: genetic analysis of a human disease using chicken system

Takata, M., Kitao, H., & Ishiai, M. (2007) · Cytogenetic and Genome Research · doi:10.1159/000103197 · Cited by 6

DNA Damage, Repair and Misrepair in Cancer and in Cancer Therapy

Ana, M., Ferreira, L. M. R., Joana, F., Carlos, F., & Maria, C. (2011) · InTech eBooks · doi:10.5772/23190 · Cited by 5

Genomic Analysis Does Not Support Malignant Transformation of Osteoblastoma to Osteosarcoma

Geller, D. S., Levine, N. L., Hoang, B. H., Yang, R. R., Weiser, D. A., Morris, J., Gorlick, R. G., Gill, J. B., Roth, M. E., Tingling, J., et al. (2019) · JCO Precision Oncology · doi:10.1200/po.19.00166 · Cited by 5

Fanconi anemia in 55‐year‐old identical twins first presenting as fatal post‐chemotherapy pancytopenia

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Defects of FA/BRCA pathway in lymphoma cell lines

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Rare genetic diseases associated with G-quadruplex-induced replication stress

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Fanconi Anemia Genes in Vertebrates: Evolutionary Conservation, Sex-Linkage, and Embryonic Expression of FANCC and FANCG in Avian Cells

Nanda, I., Buwe, A., Wizenmann, A., Takata, M., Haaf, T., Schartl, M., & Schmid, M. (2007) · KARGER eBooks · doi:10.1159/000102556 · Cited by 3

Ubiquitin and FANC Stress Responses

Williams, S. A., & Kupfer, G. M. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374145-5.00272-2 · Cited by 3

Effects of hydrazone-based G-quadruplex ligands on FANCJ/BRIP1-depleted cancer cells and a Caenorhabditis elegans dog-1−/− strain

Germoglio, M., D’Aria, F., Cortone, G., Prodomo, A., Mahtab, M., Morigi, R., Amato, J., Pisani, F. M., & Giancola, C. (2025) · NAR Cancer · doi:10.1093/narcan/zcaf004 · Cited by 2

Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders

Jimenez, D. A., Walker, A. K., Usdin, K., & Zhao, X.-N. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26062655 · Cited by 2

BLM and FANCJ role in the response to G-quadruplex-dependent telomeric replicative stress

Bonanni, L., Muoio, D., Fouquerel, E., Perelli, A., Salvati, E., Berardinelli, F., & Antoccia, A. (2026) · Communications Biology · doi:10.1038/s42003-025-09367-z · Cited by 3

RAD51D- and FANCG-dependent base substitution mutagenesis at the ATP1A1 locus in mammalian cells

Hinz, J. M., Urbin, S. S., & Thompson, L. H. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.03.001 · Cited by 3

Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer

Özmen, V., Çağlayan, A. O., Yararbaş, K., Ordu, Ç., Aktepe, F., Özmen, T., İlgün, A. S., Soybir, G., Alço, G., Tsaousis, G., et al. (2022) · Oncology Letters · doi:10.3892/ol.2022.13238 · Cited by 2

Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1-Related Fanconi Anemia

Nathoo, N., Gavrilova, R. H., Trejo‐Lopez, J. A., McGarrah, P. W., Go, R. S., Alqallaf, A., & Tobin, W. O. (2023) · The Neurologist · doi:10.1097/nrl.0000000000000511 · Cited by 2

Association of variations in the Fanconi anemia complementation group and prognosis in Non–small cell lung cancer patients with Platinum-based chemotherapy

Mo, J.-L., Liu, J.-S., Xiao, Q., Hong, W., Yin, J., Chen, J., & Liu, Z. (2022) · Gene · doi:10.1016/j.gene.2022.146398 · Cited by 2

TUMOR SUPPRESSOR PATHWAYS AND CELLULAR ORIGINS OF BREAST CANCER: NEW COMPLEXITIES AND NEW HOPES

Jerry, D. J., Griner, N. B., & Tao, L. (2010) · Nano LIFE · doi:10.1142/s179398441000002x · Cited by 2

Fanconi Anemia: A Pathway of Hematopoiesis and Cancer Predisposition

Suliman, A. Y., Smith, F. O., & Kupfer, G. M. (2018) · Pediatric oncology · doi:10.1007/978-3-319-61421-2_4 · Cited by 2

The Fanconi Anemia Pathway and Interstrand Cross-Link Repair

Ishiai, M., Tomida, J., Itaya, A., Hejna, J., & Takata, M. (2016) · Springer eBooks · doi:10.1007/978-4-431-55873-6_8 · Cited by 2

The Molecular Basis of Anemia

Luzzatto, L., & Karadimitris, A. (2010) · Wiley eBooks · doi:10.1002/9781444318531.ch12 · Cited by 2

Fanconi Anemia Genes: Structure, Mutations, and Genotype-Phenotype Correlations

Kalb, R., Neveling, K., Herterich, S., & Schindler, D. (2007) · KARGER eBooks · doi:10.1159/000102547 · Cited by 2

Correction: A Protein Prioritization Approach Tailored for the FA/BRCA Pathway

Haitjema, A., Brandt, B. W., Ameziane, N., May, P., Heringa, J., de Winter, J. P., Joenje, H., & Dorsman, J. C. (2013) · PLoS ONE · doi:10.1371/annotation/bd2ee3f6-0f2b-4814-9825-7b90a40fb91f · Cited by 2

Genetic and molecular analyses of candidate germline BRIP1/FANCJ variants implicated in breast and ovarian cancerPreprint

Milano, L., Alenezi, W. M., Fierheller, C. T., Serruya, C., Revil, T., Oros, K. K., Bruce, J. P., Spiegelman, D., Pugh, T. J., Mes‐Masson, A., et al. (2023) · medRxiv · doi:10.1101/2023.07.03.23290133 · Cited by 2

Molecular Mechanisms of Early Breast Cancer

Ariyannur, P. S., & Srinivasalu, V. K. (2020) · Springer eBooks · doi:10.1007/978-981-15-6171-9_5 · Cited by 1

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers

Milano, L., Alenezi, W. M., Fierheller, C. T., Serruya, C., Revil, T., Oros, K. K., Bruce, J. J., Spiegelman, D., Pugh, T. J., Mes‐Masson, A., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27021037 · Cited by 3

Regulation of BACH1/FANCJ Function in DNA Damage Repair: A Dissertation

Xie, J. (2009) · eScholarship@UMassChan · doi:10.13028/95cm-wn54 · Cited by 1

From the Molecular Biology to the Gene Therapy of a DNA Repair Syndrome: Fanconi Anemia

Rı́o, P., Navarro, S., & Juan, A. D. (2011) · InTech eBooks · doi:10.5772/24657 · Cited by 1

The FANCA to FANCZ of DNA interstrand crosslink repair: Lessons from Fanconi anemia

O’Rourke, J. J., & Deans, A. J. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803582-5.00012-7 · Cited by 1

Purification and biochemical characterization of the G4 resolvase and DNA helicase FANCJ

Kulikowicz, T., Sommers, J. A., Fuchs, K. F., Wu, Y., & Brosh, R. M. (2024) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/bs.mie.2023.12.006 · Cited by 1

Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies

Kohzaki, M. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2022.934042 · Cited by 1

Functional Knock-Down of Human RAD51 for Testing the Fanconi Anemia-BRCA Connection

Rı́o, P., & Hanenberg, H. (2007) · KARGER eBooks · doi:10.1159/000102559 · Cited by 1

Fanconi Anemia: A Multi-Age Cancer Susceptibility Syndrome

Harney, J. A., Shimamura, A., & Howlett, N. G. (2008) · Pediatric Health · doi:10.2217/17455111.2.2.175 · Cited by 1

Alteraciones de splicing del gen BRCA2 en cáncer de mama y ovario: Diseño del nuevo vector de splicing pSAD para la construcción de minigenes híbridos.

Becares, A. A. (2013) · UVaDOC UVaDOC University of Valladolid Documentary Repository (University of Valladolid) · doi:10.35376/10324/4406 · Cited by 1

The molecular basis of bone marrow failure syndromes and red cell enzymopathies

Iskander, D., Luzzatto, L., & Karadimitris, A. (2019) · Wiley eBooks · doi:10.1002/9781119252863.ch11 · Cited by 1

Genomic Instability in Fanconi Anaemia and Nijmegen Breakage Syndrome

Digweed, M. (2006) · Springer eBooks · doi:10.1007/7050_013 · Cited by 1

Saccharomyces cerevisiae DNA helicases Mph1, Srs2 and Sgs1 collaborate for the reinitiation of stalled or collapsed replication forks

Panico, E. R. (2006) · doi:10.53846/goediss-148

PRECLINICAL STUDIES ON ATM KINASE INHIBITORS AS ANTI-CANCER AGENTS

Choi, S. (2011) · D-Scholarship@Pitt (University of Pittsburgh)

The Fanconi anemia-BRCA Pathway and Cancer

Taniguchi, T. (2009) · Springer eBooks · doi:10.1007/978-90-481-2561-6_17

IDENTIFICATION OF NOVEL FANCD2 INTERACTING PROTEINS VIA IMMUNOPRECIPITATION AND MASS SPECTROMETRY

Azzinaro, P. A. (2014) · doi:10.23860/thesis-azzinaro-paul-2014

Characterization of the BACH1 Helicase in the DNA Damage Response Pathway: a Dissertation

Flynn, R. L. (2007) · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · doi:10.13028/ad72-xg56

The function of the BRCA2 protein and centriole mobility during cytokinesis studied with live-cell microscopy

Jonsdottir, A. B. (2010) · Skemman

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