A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germline mutation impairs protein stability and function

Clinical Cancer Research

Volumn 14, Issue 14, 2008, Pages 4672-4680

  De Nicolo, Arcangela ^a   Tancredi, Mariella ^d   Lombardi, Grazia ^d   Flemma, Cristina Chantal ^d   Barbuti, Serena ^d   Di Cristofano, Claudio ^d   Sobhian, Bijan ^a   Bevilacqua, Generoso ^d   Drapkin, Ronny ^b,c,e   Caligo, Maria Adelaide ^d  

^a Department of Cancer Biology ^*

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d UNIVERSITY OF PISA   (Italy)

^e DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; HELICASE; BRIP1 PROTEIN, HUMAN; DNA BINDING PROTEIN; RNA HELICASE;

ARTICLE; BREAST CANCER; BRIP1 GENE; CANCER RISK; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; TUMOR SUPPRESSOR GENE; ADULT; AGED; BREAST TUMOR; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HETEROZYGOSITY LOSS; IMMUNOPRECIPITATION; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; OVARY TUMOR; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADULT; AGED; BASE SEQUENCE; BLOTTING, WESTERN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; IMMUNOPRECIPITATION; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA HELICASES; TRANSFECTION;

EID: 51649108664     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-08-0087     Document Type: Article

References (53)

1. Rahman N, Stratton MR. The genetics of breast cancer susceptibility. Annu Rev Genet1998;32:95-121.
2. Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 2000;83:1301-8.
3. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62:676-89.
4. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-8.
5. Thorlacius S, Struewing JP, Hartge P, et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet1998;352:1337-9.
6. Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 2007;7:937-48.
7. Antoniou AC, Easton DF. Models of genetic susceptibility to breast cancer. Oncogene 2006;25:5898-905.
8. Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell 2007;11:103-5.
9. Erkko H, Xia B, Nikkila J, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007;446: 316-9.
10. Heikkinen K, Rapakko K, Karppinen SM, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006;27:1593-9.
11. Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31:55-9.
12. Rahman N, Seal S. Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007; 39:165-7.
13. Renwick A. Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-5.
14. Seal S. Thompson D, Renwick A, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006;38:1239-41.
15. Cantor SB, Bell DW, Ganesan S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 2001;105:149-60.
16. Shiozaki EN, Gu L, Yan N, Shi Y. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol Cell 2004;14: 405-12.
17. Yu X, Chini CC, He M, Mer G, Chen J. The BRCT domain is a phospho-protein binding domain. Science 2003;302:639-42.
18. Williams RS, Lee MS, Hau DD, Glover JN. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Nat Struct Mol Biol 2004;11: 519-25.
19. Callahan R. Somatic mutations that contribute to breast cancer. Biochem Soc Symp 1998;63:211-21.
20. Cantor S, Drapkin R, Zhang F, et al. The BRCAI - associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci U S A 2004;101:2357-62.
21. Ellis NA. DNA helicases in inherited human disorders. Curr Opin Genet Dev 1997;7:354-63.
22. Hickson ID. RecQ helicases: caretakers of the genome. Nat Rev Cancer 2003;3:169-78.
23. Karow JK, Wu L, Hickson ID. RecQ family helicases: roles in cancer and aging. Curr Opin Genet Dev 2000; 10:32-8.
24. van Brabant AJ, Stan R, Ellis NA. DNA helicases, genomic instability, and human genetic disease. Annu Rev Genomics Hum Genet 2000;1:409-59.
25. Luo L, Lei H, Du Q, et al. No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22. Int J Cancer 2002;98:638-9.
26. Karppinen SM, Vuosku J, Heikkinen K, Allinen M, Winqvist R. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer 2003;39:366-71.
27. Rutter JL, Smith AM, Davila MR, et al. Mutational analysis of the BRCAI - interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2- negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals. Hum Mutat 2003;22:121-8.
28. 919 Pro variant and breast cancer risk. BMC Cancer 2006;6:19.
29. Taniguchi T, D'Andrea AD. Molecular pathogenesis of Fanconi anemia: recent progress. Blood 2006;107: 4223-33.
30. Bridge WL, Vandenberg CJ, Franklin RJ, Hiom K. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet 2005;37:953-7.
31. Levitus M, Waisfisz Q, Godthelp BC, et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 2005;37:934-5.
32. Levran O, Attwooll C, Henry RT, et al. The BRCA1- interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 2005;37:931-3.
33. Litman R, Peng M, Jin Z, et al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell 2005;8:255-65.
34. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002;297:606-9.
35. Reid S, Schindler D, Hanenberg H, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007;39:162-4.
36. Xia B, Dorsman JC, Ameziane N, et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007;39:159-61.
37. Aretini P, D'Andrea E, Pasini B, et al. Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation. Breast Cancer Res Treat 2003;81:71-9.
38. Maki CG, Howley PM. Ubiquitination of p53 and p21 is differentially affected by ionizing and UV radiation. Mol Cell Biol 1997;17:355-63.
39. Scully R, Ganesan S, Brown M, et al. Location of BRCA1 in human breast and ovarian cancer cells. Science 1996;272:123-6.
40. Chang YF, Imam JS, Wilkinson MF. The nonsensemediated decay RNA surveillance pathway. Annu Rev Biochem 2007;76:51-74.
41. Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006;12:306-16.
42. Cheng J, Belgrader P, Zhou X, Maquat LE. Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance. Mol Cell Biol 1994;14:6317-25.
43. Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998;23:198-9.
44. Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 2002;11:2805-14.
45. Sigurdson AJ, Hauptmann M, Chatterjee N, et al. Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC Cancer 2004;4:9.
46. Garcia-Closas M, Egan KM, Newcomb PA, et al. Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two populationbased studies in USA and Poland, and meta-analyses. Hum Genet 2006;119:376-88
47. Knudson AG, Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3.
48. Clapperton JA, Manke IA, Lowery DM, et al. Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Nat Struct Mol Biol 2004;11: 512-8.
49. Peng M, Litman R, Xie J, et al. The FANCJ/MutLα interaction is required for correction of the cross-link response in FA-J cells. EMBO J 2007; 26:3238-49.
50. Antoniou AC, Pharoah PD, McMullan G, et al. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study Genet Epidemiol 2001;21:1-18
51. Ponder BA, Antoniou A, Dunning A. Easton DF. Pharoah PD. Polygenic inherited predisposition to breast cancer. Cold Spring Harbor Symp Quant Biol 2005;70:35-41.
52. Reid S. Renwick A, Seal S. et al. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour J Med Genet 2005;42:147-51.
53. Wreesmann VB, Estilo C, Eisele DW, Singh B, Wang SJ. Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. ORL J Otorhinolaryngol Relat Spec 2007;69:218-25.0