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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
BRIP1
gene.
Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, Livingston DM. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2357-62. Erratum in: Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6834.
PubMed citation
Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001 Apr 6;105(1):149-60.
PubMed citation
Entrez
Gene
Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B. BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer. 2007 May 15;7:83.
PubMed citation
Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet. 2005 Sep;37(9):934-5. Epub 2005 Aug 21.
PubMed citation
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet. 2005 Sep;37(9):931-3. Epub 2005 Aug 21.
PubMed citation
Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB, Lindeman GJ, Visvader JE, Brown MA, Chenevix-Trench G; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res. 2005;7(6):R1005-16. Epub 2005 Oct 21.
PubMed citation
Peng M, Litman R, Jin Z, Fong G, Cantor SB. BACH1 is a DNA repair protein supporting BRCA1 damage response. Oncogene. 2006 Apr 6;25(15):2245-53.
PubMed citation
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006 Nov;38(11):1239-41. Epub 2006 Oct 8.
PubMed citation
Song H, Ramus SJ, Kjaer SK, Hogdall E, Dicioccio RA, Whittemore AS, McGuire V, Hogdall C, Jacobs IJ, Easton DF, Ponder BA, Dunning AM, Gayther SA, Pharoah PD. Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS One. 2007 Mar 7;2(3):e268.
PubMed citation
Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H. BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer. 2006 Jan 24;6:19.
PubMed citation
Reviewed: August 2007
Published: May 13, 2013