Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 - PubMed (original) (raw)

doi: 10.1038/ng1942. Epub 2006 Dec 31.

Josephine C Dorsman, Najim Ameziane, Yne de Vries, Martin A Rooimans, Qing Sheng, Gerard Pals, Abdellatif Errami, Eliane Gluckman, Julian Llera, Weidong Wang, David M Livingston, Hans Joenje, Johan P de Winter

Affiliations

• PMID: 17200672
• DOI: 10.1038/ng1942

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

Bing Xia et al. Nat Genet. 2007 Feb.

Abstract

The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.

PubMed Disclaimer

Comment in

• Fanconi anemia and breast cancer susceptibility.
  Patel KJ. Patel KJ. Nat Genet. 2007 Feb;39(2):142-3. doi: 10.1038/ng0207-142. Nat Genet. 2007. PMID: 17262024 No abstract available.

Similar articles

• Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
  Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Reid S, et al. Nat Genet. 2007 Feb;39(2):162-4. doi: 10.1038/ng1947. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200671
• Fanconi anemia and breast cancer susceptibility.
  Patel KJ. Patel KJ. Nat Genet. 2007 Feb;39(2):142-3. doi: 10.1038/ng0207-142. Nat Genet. 2007. PMID: 17262024 No abstract available.
• PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
  Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR. Rahman N, et al. Nat Genet. 2007 Feb;39(2):165-7. doi: 10.1038/ng1959. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200668 Free PMC article.
• Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
  Pauty J, Rodrigue A, Couturier A, Buisson R, Masson JY. Pauty J, et al. Biochem J. 2014 Jun 15;460(3):331-42. doi: 10.1042/BJ20140208. Biochem J. 2014. PMID: 24870022 Review.
• PALB2/FANCN: recombining cancer and Fanconi anemia.
  Tischkowitz M, Xia B. Tischkowitz M, et al. Cancer Res. 2010 Oct 1;70(19):7353-9. doi: 10.1158/0008-5472.CAN-10-1012. Epub 2010 Sep 21. Cancer Res. 2010. PMID: 20858716 Free PMC article. Review.

Cited by

• Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins.
  Prakash R, Zhang Y, Feng W, Jasin M. Prakash R, et al. Cold Spring Harb Perspect Biol. 2015 Apr 1;7(4):a016600. doi: 10.1101/cshperspect.a016600. Cold Spring Harb Perspect Biol. 2015. PMID: 25833843 Free PMC article. Review.
• BRCA1 and TP53 codeficiency causes a PARP inhibitor-sensitive erythroproliferative neoplasm.
  Lopez-Perez G, Wijayatunge R, McCrum KB, Holmstrom SR, Mgbemena VE, Ross TS. Lopez-Perez G, et al. JCI Insight. 2022 Dec 22;7(24):e158257. doi: 10.1172/jci.insight.158257. JCI Insight. 2022. PMID: 36346676 Free PMC article.
• The effects of deregulated DNA damage signalling on cancer chemotherapy response and resistance.
  Bouwman P, Jonkers J. Bouwman P, et al. Nat Rev Cancer. 2012 Sep;12(9):587-98. doi: 10.1038/nrc3342. Nat Rev Cancer. 2012. PMID: 22918414 Review.
• MDC1 and RNF8 function in a pathway that directs BRCA1-dependent localization of PALB2 required for homologous recombination.
  Zhang F, Bick G, Park JY, Andreassen PR. Zhang F, et al. J Cell Sci. 2012 Dec 15;125(Pt 24):6049-57. doi: 10.1242/jcs.111872. Epub 2012 Oct 4. J Cell Sci. 2012. PMID: 23038782 Free PMC article.
• Rad51 Paralogs Remodel Pre-synaptic Rad51 Filaments to Stimulate Homologous Recombination.
  Taylor MRG, Špírek M, Chaurasiya KR, Ward JD, Carzaniga R, Yu X, Egelman EH, Collinson LM, Rueda D, Krejci L, Boulton SJ. Taylor MRG, et al. Cell. 2015 Jul 16;162(2):271-286. doi: 10.1016/j.cell.2015.06.015. Cell. 2015. PMID: 26186187 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Medical

  • MedlinePlus Health Information

• Molecular Biology Databases

  • GlyGen glycoinformatics resource

• Research Materials

  • Cellosaurus - a cell line knowledge resource
  • NCI CPTC Antibody Characterization Program

• Miscellaneous

  • NCI CPTAC Assay Portal