Missense mutations in the BRCT domain of BRCA-1 from high-risk women frequently perturb strongly hydrophobic amino acids conserved among mammals

Cancer Epidemiology Biomarkers and Prevention

Volumn 13, Issue 6, 2004, Pages 1037-1041

  Figge, Meaghan A ^a   Blankenship, Lynda ^a  

^a Albany Academy for Girls   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; BREAST CANCER; CODON; DOG; FEMALE; GENE MUTATION; HIGH RISK POPULATION; HUMAN; HYDROPHOBICITY; MAJOR CLINICAL STUDY; MAMMAL; MISSENSE MUTATION; MOUSE; NONHUMAN; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; RAT;

AMINO ACID SEQUENCE; AMINO ACIDS; ANIMALS; BREAST NEOPLASMS; DATABASES, FACTUAL; DOGS; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYDROPHOBICITY; MICE; MUTATION, MISSENSE; NATIONAL INSTITUTES OF HEALTH (U.S.); OVARIAN NEOPLASMS; RATS; UNITED STATES;

EID: 2942592139     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Olopade O, Fackenthal J. Breast cancer genetics: implications for clinical practice. Hematol Oncol Clin North Am 2000;14:705-25.
2. Zheng L, Li S, Boyer T, Lee W-H. Lessons learned from BRCA-1 and BRCA-2. Oncogene 2000;19:6159-75.
3. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998;62:676-89.
4. Zhang X, Morera S, Bates P, et al. Structure of an XRCC1 BRCT domain: a new protein-protein interaction module. EMBO J 1998;17:6404-11.
5. Wu-Baer F, Baer R. Effect of DNA damage on a BRCA-1 complex. Nature 2001;414:36.
6. Li S, Ting NS, Zheng L, et al. Functional Link of BRCA-1 and ataxia telangiectasia gene product in DNA damage response. Nature 2000;406:210-5.
7. Lee JS, Collins KM, Brown AL, Lee CH, Chung JH. hCds1-mediated phosphorylation of BRCA-1 regulates the DNA damage response. Nature 2000;404:201-4.
8. Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM-dependent phosphorylation of BRCA-1 in the DNA damage response to double strand breaks. Science 1999;286:1162-6.
9. Hartman AR, Ford JM. BRCA-1 induces DNA damage recognition factors and enhances nucleotide excision repair. Nat Genet 2002;32:180-4.
10. Paull TT, Cortez D, Bowers B, Elledge SJ, Gellert M. Direct DNA binding by BRCA-1. Proc Natl Acad Sci USA 2001;98:6086-91.
11. Yamane K, Katayama E, Tsuruo T. The BRCT regions of tumor suppressor BRCA-1 and of XRCC-1 show DNA end binding activity with a multimerizing feature. Biochem Biophys Res Commun 2000;279:678-84.
12. Xu X, Qiao W, Linke SP, et al. Genetic interactions between tumor suppressors BRCA-1 and p53 in apoptosis, cell cycle and tumorigenesis. Nat Genet 2001;28:266-71.
13. Welcsh PL, Lee MK, Gonzalez-Hernandez RM, et al. BRCA-1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci USA 2002;99:7560-5.
14. Williams RS, Green R, Glover JNM. Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol 2001;8:838-42.
15. Orelli B, Logsdon J Jr, Bishop D. Nine novel conserved motifs in BRCA-1 identified by the chicken orthologue. Oncogene 2001;20:4433-8.
16. Breast Cancer Information Core [accessed 2002 Aug]. Available from: http://research.nhgri.nih.gov/bic/.
17. Szabo C, Masiello A, Ryan J, The BIC Consortium, Brody L. The Breast Cancer Information Core: database design, structure, and scope. Hum Mutat 2000;16:123-31.
18. Eisenberg D, Schwarz E, Komaromy M, Wall R. Analysis of membrane and surface protein sequences with the hydrophobic moment plot. J Mol Biol 1984;179:125-42.
19. Nozaki Y, Tanford C. The solubility of amino acids and two glycine peptides in aqueous ethanol and dioxane solutions. J Biol Chem 1971;246:2211-7.
20. Janin J. Surface and inside volumes in globular proteins. Nature 1979;277:491-2.
21. Chothia C. The nature of accessible and buried surfaces in proteins. J Mol Biol 1976;105:1-14.
22. Wolfenden R, Andersson L, Cullis PM, Southgate CCB. Affinities of amino acid side chains for solvent water. Biochemistry 1981;20:849-55.
23. von Heijne G, Blomberg C. Trans-membrane translocation of proteins: the direct transfer model. Eur J Biochem 1979;97:175-81.
24. Gaboriaud C, Bissery V, Benchetrit T, Mornon JP. Hydrophobic cluster analysis: an efficient new way to compare and analyse amino acid sequences. FEBS Lett 1987;224:149-55.
25. Kramer M. Clinical epidemiology and biostatistics: a primer for clinical investigators and decision-makers. New York: Springer-Verlag; 1988.
26. Hayes F, Cayanan C, Barilla D, Monteiro A. Functional assay for BRCA-1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res 2000;60:2411-8.
27. Williams S, Glover M. Structural consequences of a cancer-causing BRCA-1 BRCT missense mutation. J Biol Chem 2003;278:2630-5.