The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Brca1 Controls Homology-Directed DNA Repair

Moynahan, M. E., Chiu, J. W., Koller, B. H., & Jasin, M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80202-6 · Cited by 1,245

Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway

Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., & D'Andrea, A. D. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00173-3 · Cited by 1,198

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149

A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

Kutler, D. I., Singh, B., Satagopan, J. M., Batish, S. D., Berwick, M., Giampietro, P. F., Hanenberg, H., & Auerbach, A. D. (2003) · Blood · doi:10.1182/blood-2002-07-2170 · Cited by 774

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

Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00304-x · Cited by 674

A novel ubiquitin ligase is deficient in Fanconi anemia

Meetei, A. R., de Winter, J. P., Medhurst, A. L., Wallisch, M., Waisfisz, Q., van de Vrugt, H. J., Oostra, A. B., Yan, Z., Ling, C., Bishop, C. E., et al. (2003) · Nature Genetics · doi:10.1038/ng1241 · Cited by 566

X-linked inheritance of Fanconi anemia complementation group B

Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M. C., Chen, L., Rooimans, M. A., Bier, P., Hoatlin, M. E., Pals, G., et al. (2004) · Nature Genetics · doi:10.1038/ng1458 · Cited by 329

RAD51C Is Required for Holliday Junction Processing in Mammalian Cells

Liu, Y., Masson, J., Punatar, R. S., O’Regan, P., & West, S. C. (2004) · Science · doi:10.1126/science.1093037 · Cited by 310

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

Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., & Livingston, D. M. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308717101 · Cited by 240

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

Levitus, M., Rooimans, M. A., Steltenpool, J., Cool, N. F. C., Oostra, A. B., Mathew, C. G., Hoatlin, M. E., Waisfisz, Q., Arwert, F., de Winter, J. P., et al. (2003) · Blood · doi:10.1182/blood-2003-08-2915 · Cited by 239

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

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

Leveling the Playing Field in Homozygosity Mapping Using Map Distances

Li, Y., Cagirici, H. B., Horpaopan, S., Ott, J., Imai, A., Majewski, J., & Lathrop, M. G. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12125 · Cited by 1

Erkrankungen der Leukozyten

Burdach, S. E. G., Jürgens, H., & Hanenberg, H. (2008) · Springer eBooks · doi:10.1007/978-3-540-71899-4_45 · Cited by 1

Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan

Rashid, M. U., Muhammad, N., Shehzad, U., Khan, F. A., Loya, A., & Hamann, U. (2022) · Familial Cancer · doi:10.1007/s10689-022-00304-1 · 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

ATM, RAD50 and p53 in breast cancer

Tommiska, J. (2008) · Työväentutkimus Vuosikirja · 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

Addendum: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Levran, O., Attwooll, C. L., Henry, R., Milton, K., Neveling, K., Rı́o, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1105-1296 · 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

Genomic Instability in Fanconi Anaemia and Nijmegen Breakage Syndrome

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

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 Fanconi anemia (FA)/BRCA DNA damage repair pathway is regulated by NF-kappaB and mediates drug resistance in multiple myeloma

Yarde, D. N. (2010)

Use of murine models to test novel gene transfer strategies for the treatment of Fanconi anemia

Pulliam, A. C. (2011) · IUScholarWorks (Indiana University) · doi:10.7912/c2/1702

Xenopus laevis as a model system for evaluating the function of fanconi anemia proteins

Stone, S. (2008) · Pure Amsterdam UMC

Inflammatory ROS in Fanconi Anemia Hematopoiesis and Leukemogenesis

Du, W. (2012) · InTech eBooks · doi:10.5772/30619

Identification of putative interactors of Fanconi anaemia proteins by yeast to hybrid system: characterization of two novel genes highly expressed during spermatogenesis

Morgese, F. (2009) · OpenstarTs (Univeristy of Trieste https://www.units.it/)

The BRCA1/2 Pathway Prevents Some Leukemias and Lymphomas in Addition to Breast/Ovarian Cancers: Malignancies that Overcome Checkpoint Controls

Friedenson, B. (2009) · Humana Press eBooks · doi:10.1007/978-1-60761-178-3_10

Fanconi anemia pathway defects in sporadic cancer

Ameziane, N. (2009) · Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam)

DNA helicases in recombination

Klein, H. L. (2007) · Springer eBooks · doi:10.1007/978-3-540-71021-9_5

Inherited Cancer-Predisposing Syndomes

Hodgson, S. V., Foulkes, W. D., Eng, C., & Maher, E. R. (2013) · Springer eBooks · doi:10.1007/978-1-4471-2375-0_11

Erkrankungen der Leukozyten

Burdach, S. E. G., Hanenberg, H., & Klein, C. (2014) · Springer eBooks · doi:10.1007/978-3-642-41814-3_48

SURVEY AND SUMMARY DNA helicase and helicase–nuclease enzymes with a conserved iron–sulfur cluster

Wu, Y., & Brosh, R. M. (2011)

The r ole of the human excision repair cross complementation (group 1) protein in the fanconi anemia pathway

McCabe, K. M. (2007)

A resistência das células T98G e U87MG à temozolamida está correlacionada com a expressão de genes de reparo de DNA

de Sousa, J. F., Cristofaro, L. F. D., Serafim, R. B., Netto, R. P., Souza, F. O., Soares, C. P., & Valente, V. (2015) · DOAJ (DOAJ: Directory of Open Access Journals)

Genetic Pathways in Pancreatic Tumorigenesis

Gallmeier, E., & Kern, S. E. (2008) · Springer eBooks · doi:10.1007/978-3-540-28656-1_52

The Q motif is involved in DNA binding that affects ATP hydrolysis and unwinding in ChlR1 helicase

Ding, H. (2016) · University Library - University of Saskatchewan (University of Saskatchewan)

Report PALB2 Links BRCA1 and BRCA2 in the DNA-Damage Response

Zhang, F., Ma, J., Wu, J., Ye, L., Cai, H., Xia, B., & Yu, X. (2009)

Disorders of DNA Repair and Metabolism

Plon, S. E. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00177-4

Inherited Susceptibility to Complex Disease

Samuelson, D. J. (2010) · Elsevier eBooks · doi:10.1016/b978-0-08-046884-6.00217-7

Thrombocytopenia in the Newborn

Roberts, I. A. G., & Murray, N. A. (2007) · Elsevier eBooks · doi:10.1016/b978-012369367-9/50814-4

Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

LaDuca, H., Li, S., Stuenkel, A. J., Speare, V., Dolinsky, J. S., & Chao, E. (2017) · Springer eBooks · doi:10.1007/978-3-319-56418-0_8

Meta-Analysis of Association Between BRIP1 Polymorphisms and Breast Cancer Risk

Dianatpour, A., Faramarzi, S., & Ghafouri‐Fard, S. (2019) · International Journal of Cancer Management · doi:10.5812/ijcm.84234

Analyse des variants de séquence et d'épissage du gène FANCC chez les familles canadiennes-françaises à risque élevé pour le cancer du sein et/ou de l'ovaire

Beauparlant, C. J. (2011)

Quick glance at Fanconi anemia and BRCA2/FANCD1

AlDallal, S. M. (2019) · AIMS Medical Science · doi:10.3934/medsci.2019.4.326

Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient

Kastora, S. L., Triantafyllidou, O., Kounidas, G., & Vlahos, N. (2021) · BMJ Case Reports · doi:10.1136/bcr-2020-241251

Fanconi anemia and RAD50 deficiency : genetic and functional analysis

Kalb, R. (2006)

Thrombozytäre Erkrankungen

Göbel, U., Hanenberg, H., & Laws, H. ‐. (2008) · Springer eBooks · doi:10.1007/978-3-540-71899-4_47

Interrelationship of the Fanconi Anemia/BRCA Pathway

McChesney, P. A., & Kupfer, G. M. (2009) · Springer eBooks · doi:10.1007/978-0-387-69147-3_5

Regulation and Function of the Fanconi Anemia Pathway for Genome Maintenance

Collins, N. B. (2008) · doi:10.18130/v3bp22

Faculty Opinions recommendation of HES1 is a novel interactor of the Fanconi anemia core complex.

Haneline, L. S. (2008) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.1124006.581116

Papers of Note

(2005) · Science of Aging Knowledge Environment · doi:10.1126/sageke.2005.34.nw32

Faculty Opinions recommendation of Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial.

Loi, S. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733152797.793562864

Faculty Opinions recommendation of Inhibited, trapped or adducted: the optimal selective synthetic lethal mix for BRCAness.

Loi, S. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.732540149.793562857

Genome-scale mapping of DNA damage suppressors identifies GNB1L as essential for ATM and ATR biogenesisPreprint

Zhao, Y., Tabet, D. R., Rubio-Contreras, D., Kousholt, A. N., Weile, J., Melo, H., Hoeg, L., Coté, A. G., Lin, Z., Setiaputra, D., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.23.508845

Data from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer

Pejovic, T. B., Yates, J. E., Liu, H. Y., Hays, L. E., Akkari, Y. M. N., Torimaru, Y., Keeble, W. W., Rathbun, R. K., Rodgers, W. H., Bale, A. E., et al. (2023) · doi:10.1158/0008-5472.c.6494441.v1

Data from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer

Pejovic, T. B., Yates, J. E., Liu, H. Y., Hays, L. E., Akkari, Y. M. N., Torimaru, Y., Keeble, W. W., Rathbun, R. K., Rodgers, W. H., Bale, A. E., et al. (2023) · doi:10.1158/0008-5472.c.6494441

Supplementary Figure 1 from Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer

Pejovic, T. B., Yates, J. E., Liu, H. Y., Hays, L. E., Akkari, Y. M. N., Torimaru, Y., Keeble, W. W., Rathbun, R. K., Rodgers, W. H., Bale, A. E., et al. (2023) · doi:10.1158/0008-5472.22364942

Data from Targeting the Fanconi Anemia/BRCA Pathway Circumvents Drug Resistance in Multiple Myeloma

Yarde, D. N., Oliveira, V. A., Mathews, L., Wang, X., Villagra, A., Boulware, D. R., Shain, K. H., Hazlehurst, L., Alsina, M., Chen, D., et al. (2023) · doi:10.1158/0008-5472.c.6500067.v1

Data from Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer

Moyer, C. L., Ivanovich, J. L., Gillespie, J. L., Doberstein, R., Radke, M. R., Richardson, M. E., Kaufmann, S. H., Swisher, E. M., & Goodfellow, P. J. (2023) · doi:10.1158/0008-5472.c.6511902.v1

Data from A Novel Breast Cancer–Associated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein Stability and Function

Nicolo, A. D., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Cristofano, C. D., Sobhian, B., Bevilacqua, G., Drapkin, R., & Caligo, M. A. (2023) · doi:10.1158/1078-0432.c.6517014

Data from A Novel Breast Cancer–Associated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein Stability and Function

Nicolo, A. D., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Cristofano, C. D., Sobhian, B., Bevilacqua, G., Drapkin, R., & Caligo, M. A. (2023) · doi:10.1158/1078-0432.c.6517014.v1

Data from Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer

Moyer, C. L., Ivanovich, J. L., Gillespie, J. L., Doberstein, R., Radke, M. R., Richardson, M. E., Kaufmann, S. H., Swisher, E. M., & Goodfellow, P. J. (2023) · doi:10.1158/0008-5472.c.6511902

Data from Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1

Calvo, J. A., Fritchman, B., Hernandez, D., Persky, N. S., Johannessen, C. M., Piccioni, F., Kelch, B. A., & Cantor, S. B. (2023) · doi:10.1158/1541-7786.c.6545031.v1

Alteración de los patrones de splicing en genes de susceptibilidad a cáncer de mama: análisis funcional mediante minigenes híbridos.

Sanoguera‐Miralles, L. (2024) · doi:10.35376/10324/66867

A practice changing paper: biallelic inactivation of BRCA2 in Fanconi anaemia

Prepelita, D., & Tischkowitz, M. D. (2024) · BJC Reports · doi:10.1038/s44276-024-00054-w

Bi-allelic variation ofFANCJ(BRIP1) identified in premature ovarian insufficiency

He, X., Hu, M., Liu, H., Zhang, C., Liang, X., Wu, X., Yang, M., Sun, A., Yao, R., Zhao, S., et al. (2025) · Gynecology and Obstetrics Clinical Medicine · doi:10.1136/gocm-2025-000208

The genetic basis of breast cancer

Javeed, T., Sofi, S., & Mir, M. A. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-27801-3.00009-0

Other Hereditary Breast Cancer Syndromes and Genes

Nathanson, K. L. (2009) · Springer eBooks · doi:10.1007/978-1-4419-0477-5_7

Role of a childhood cancer-linked BRIP1/FANCJ germline variant in genomic instability and cancer cell vulnerabilityPreprint

Karbassi, S., Nikolova, T., Pfeiffer, D., Nakkeeran, S., Anand, R., Frappart, P., Kuhlen, M., & Hofmann, T. G. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.24.714005

Déterminants génétiques de la réparation d'ADN et du métabolisme des monocarbones : approche gènes candidats et études d'association avec le risque de carcinome hépatocellulaire et le cancer du poumon

Avogbe, P. H. (2012) · theses.fr (ABES) · doi:10.70675/b5f3eb9dzef2az480fz93b6z6b19f8a3f305

Methods and tools for the study of G-quadruplex DNA and RNA in human cells

Mitteaux, J. (2023) · theses.fr (ABES) · doi:10.70675/238e46c0z22bbz48f0zbe91zec2355c4c666

Iron-sulfur cofactors in nucleic acid metabolism and protein synthesis: Assembly, delivery, and putative roles in cellular and viral systems

Maio, N., & Rouault, T. A. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.113129

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population

Idris, F. P., Tayeb, T. H., Robevska, G., Hama-sharef, K., Jalal, D. B., van den Bergen, J., Atlas, G., Bell, K. M., Tan, T. Y., Sinclair, A. H., et al. (2026) · Human Molecular Genetics · doi:10.1093/hmg/ddag089

Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway

Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., & D'Andrea, A. D. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00173-3 · Cited by 1,198

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

Bridge, W. L., Vandenberg, C. J., Franklin, R., & Hiom, K. J. (2005) · Nature Genetics · doi:10.1038/ng1627 · Cited by 209

BRCA1 interacts directly with the Fanconi anemia protein

Folias, R. E., Matkovic, M. E., Bruun, D., Reid, S., Hejna, J., Grompe, M., & Moses, R. E. (2002)

Assessing the Link between BACH1 and BRCA1 in the FA Pathway

Cantor, S. B., & Andreassen, P. R. (2005) · Cell Cycle · doi:10.4161/cc.5.2.2338 · Cited by 39

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., et al. (2005) · Nature Genetics · doi:10.1038/ng1625 · Cited by 432