Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del

Cancer Research

Volumn 69, Issue 17, 2009, Pages 7030-7037

  De Nicolo, Arcangela ^a,b   Parisini, Emilio ^a   Zhong, Quan ^a,b   Palma, Maurizia Dalla ^c   Stoeckert, Kathryn A ^a   Domchek, Susan M ^c   Nathanson, Katherine L ^c   Caligo, Maria A ^d   Vidal, Marc ^a,b   Cusick, Michael E ^a,b   Garber, Judy E ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ARTICLE; BREAST CANCER; BRIP1 GENE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CTIP GENE; DNA REPAIR; FHL2 GENE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; ITALY; KPNA2 GENE; MOLECULAR MODEL; OVARY CANCER; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; RAP80 GENE;

AMINO ACID SUBSTITUTION; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MODELS, MOLECULAR; MUSCLE PROTEINS; MUTATION; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STABILITY; RECOMBINANT PROTEINS; TRANSCRIPTION FACTORS;

EID: 70149102673     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-09-1440     Document Type: Article

References (50)

1. Rahman N, Stratton MR. The genetics of breast cancer susceptibility. Annu Rev Genet 1998;32:95-121.
2. Deng CX. BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution. Nucleic Acids Res 2006;34:1416-1426
3. Venkitaraman AR. Linking the cellular functions of BRCA genes to cancer pathogenesis and treatment. Annu Rev Pathol 2009;4:461-487
4. Mark WY, Liao JC, Lu Y, et al. Characterization of segments from the central region of BRCA1: an intrinsically disordered scaffold for multiple protein-protein and protein-DNA interactions? J Mol Biol 2005;345:275-287
5. Baer R, Ludwig T. The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity. Curr Opin Genet Dev 2002;12:86-91. (Pubitemid 34094995)
6. Huyton T, Bates PA, Zhang X, Sternberg MJ, Freemont PS. The BRCA1 C-terminal domain: structure and function. Mutat Res 2000;460:319-332 (Pubitemid 30628598)
7. Williams RS, Green R, Glover JN. Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol 2001;8:838-842 (Pubitemid 32923600)
8. Manke IA, Lowery DM, Nguyen A, Yaffe MB. BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science 2003;302:636-639 (Pubitemid 37310918)
9. Yu X, Chini CC, He M, Mer G, Chen J. The BRCT domain is a phospho-protein binding domain. Science 2003;302:639-642
10. 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;105:149-160 (Pubitemid 32323924)
11. Yu X, Wu LC, Bowcock AM, Aronheim A, Baer R. The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression. J Biol Chem 1998;273:25388-25392 (Pubitemid 28443306)
12. 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;11:512-518
13. 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;14:405-412 (Pubitemid 38591411)
14. Varma AK, Brown RS, Birrane G, Ladias JA. Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex. Biochemistry 2005;44:10941-10946 (Pubitemid 41209030)
15. Szabo CI, Worley T, Monteiro AN. Understanding germ-line mutations in BRCA1. Cancer Biol Ther 2004;3:515-520
16. Domchek S, Weber BL. Genetic variants of uncertain significance: flies in the ointment. J Clin Oncol 2008;26:16-17
17. Chenevix-Trench G, Healey S, Lakhani S, et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res 2006;66:2019-2027 (Pubitemid 43294910)
18. Goldgar DE, Easton DF, Deffenbaugh AM, et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 2004;75:535-544
19. Osorio A, Milne RL, Honrado E, et al. Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information. Hum Mutat 2007;28:477-485 (Pubitemid 46668606)
20. Tavtigian SV, Samollow PB, de Silva D, Thomas A. An analysis of unclassified missense substitutions in human BRCA1. Fam Cancer 2006;5:77-88. (Pubitemid 43384322)
21. Malacrida S, Agata S, Callegaro M, et al. BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy. J Clin Oncol 2008;26:26-31.
22. Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993;234:779-815. (Pubitemid 24007801)
23. Scully R, Ganesan S, Brown M, et al. Location of BRCA1 in human breast and ovarian cancer cells. Science 1996;272:123-126
24. Scully R, Chen J, Plug A, et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 1997;88:265-275 (Pubitemid 28015875)
25. De Nicolo A, Tancredi M, Lombardi G, et al. A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germline mutation impairs protein stability and function. Clin Cancer Res 2008;14:4672-4680
26. Vidalain PO, Boxem M, Ge H, Li S, Vidal M. Increasing specificity in high-throughput yeast two-hybrid experiments. Methods 2004;32:363-370 (Pubitemid 38299327)
27. Yarden RI, Brody LC. BRCA1 interacts with components of the histone deacetylase complex. Proc Natl Acad Sci U S A 1999;96:4983-4988
28. Lamesch P, Li N, Milstein S, et al. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Genomics 2007;89:307-315 (Pubitemid 46210126)
29. Botuyan MV, Nomine Y, Yu X, et al. Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains. Structure 2004;12:1137-1146 (Pubitemid 38900756)
30. Jasin M. Homologous repair of DNA damage and tumorigenesis: the BRCA connection. Oncogene 2002;21:8981-8993 (Pubitemid 36110827)
31. Greenberg RA, Sobhian B, Pathania S, et al. Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes. Genes Dev 2006;20:34-46. (Pubitemid 43042666)
32. Scully R, Chen J, Ochs RL, et al. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 1997;90:425-435 (Pubitemid 27347233)
33. Taniguchi T, D'Andrea AD. Molecular pathogenesis of Fanconi anemia: recent progress. Blood 2006;107:4223-4233 (Pubitemid 43801344)
34. Yu X, Chen J. DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains. Mol Cell Biol 2004;24:9478-9486 (Pubitemid 39391684)
35. Hashizume R, Fukuda M, Maeda I, et al. The RING heterodimer BRCA1-1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem 2001;276:14537-14540 (Pubitemid 37373320)
36. Yan J, Jetten AM. RAP80 and RNF8, key players in the recruitment of repair proteins to DNA damage sites. Cancer Lett 2008;271:179-190
37. Yan J, Zhu J, Zhong H, et al. BRCA1 interacts with FHL2 and enhances FHL2 transactivation function. FEBS Lett 2003;553:183-189 (Pubitemid 37206348)
38. Chen CF, Li S, Chen Y, et al. The nuclear localization sequences of the BRCA1 protein interact with the importin-α subunit of the nuclear transport signal receptor. J Biol Chem 1996;271:32863-32868 (Pubitemid 27008717)
39. Yehiely F, Moyano JV, Evans JR, Nielsen TO, Cryns VL. Deconstructing the molecular portrait of basal-like breast cancer. Trends Mol Med 2006;12:537-544 (Pubitemid 44740239)
40. Williams RS, Chasman DI, Hau DD, et al. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 2003;278:53007-53016
41. Rodriguez JA, Au WW, Henderson BR. Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. Exp Cell Res 2004;293:14-21.
42. Fabbro M, Henderson BR. Regulation of tumor suppressors by nuclear-cytoplasmic shuttling. Exp Cell Res 2003;282:59-69. (Pubitemid 36259901)
43. Chapman MS, Verma IM. Transcriptional activation by BRCA1. Nature 1996;382:678-679
44. Monteiro AN, August A, Hanafusa H. Evidence for a transcriptional activation function of BRCA1 C-terminal region. Proc Natl Acad Sci U S A 1996;93:13595-13599 (Pubitemid 26424164)
45. Carvalho MA, Marsillac SM, Karchin R, et al. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res 2007;67:1494-1501 (Pubitemid 46383373)
46. Vallon-Christersson J, Cayanan C, Haraldsson K, et al. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet 2001;10:353-360 (Pubitemid 32166546)
47. Couch FJ, Rasmussen LJ, Hofstra R, et al. Assessment of functional effects of unclassified genetic variants. Hum Mutat 2008;29:1314-1326
48. Tavtigian SV, Greenblatt MS, Goldgar DE, Boffetta P. Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group. Hum Mutat 2008;29:1261-1264
49. Goldgar DE, Easton DF, Byrnes GB, et al. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 2008;29:1265-1272
50. Williams RS, Lee MS, Hau DD, Glover JN. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Nat Struct Mol Biol 2004;11:519-525 (Pubitemid 38691918)