An analysis of unclassified missense substitutions in human BRCA1

Familial Cancer

Volumn 5, Issue 1, 2006, Pages 77-88

  Tavtigian, Sean V ^a   Samollow, Paul B ^b   De Silva, Deepika ^a   Thomas, Alun ^c  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^b TEXAS A AND M UNIVERSITY   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

BRCA1; Co occurrence analysis; Grantham Deviation; Grantham Variation; Missense substitution; Unclassified variant

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANALYTICAL PARAMETERS; ARTICLE; CLASSIFICATION; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GRANTHAM DEVIATION; GRANTHAM MATRIX SCORE; GRANTHAM VARIATION; HIGH RISK POPULATION; HUMAN; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; SCORING SYSTEM; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; BRCA1 PROTEIN; BRCA2 PROTEIN; CONFIDENCE INTERVALS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASTIC SYNDROMES, HEREDITARY; ODDS RATIO; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT;

VERTEBRATA;

EID: 33644925583     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-005-2578-0     Document Type: Article

References (18)

1. V Abkevich A Zharkikh A Deffenbaugh 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation J Med Gen 41 492 507
2. DE Goldgar DF Easton AM Deffenbaugh 2004 Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BCA1 and BRCA2 Am J Hum Genet 75 535 44
3. Phelan CM, Vesna A, Tice B, et al., 2005 Classification of BRCA1 missense variant of unknown clinical significance. J Med Genet, in Press.
4. TS Frank SA Manley OI Olopade 1998 Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk J Clin Oncol 16 2417 25
5. AL Beaudet LC Tsui 1993 A suggested nomenclature for designating mutations Hum Mutat 2 245 8
6. O Poirot K Suhre C Abergel 2004 3DCoffee@igs: a web server for combining sequences and structures into a multiple sequence alignment Nucleic Acids Res 32 W37 40
7. PS Brzovic P Rajagopal DW Hoyt 2001 Structure of a BRCA1-BARD1 heterodimeric RING-RING complex Nat Struct Biol 8 833 7
8. RS Williams R Green JN Glover 2001 Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1 Nat Struct Biol 8 838 42
9. EN Shiozaki L Gu N Yan 2004 Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling Mol Cell 14 405 12
10. WM Fitch E Markowitz 1970 An improved method for determining codon variability in a gene and its application to the rate of fixation of mutations in evolution Biochem Genet 4 579 93
11. R. Grantham 1974 Amino acid difference formula to help explain protein evolution Science 185 862 4
12. E Zuckerkandl L Pauling 1965 Molecules as documents of evolutionary history J Theor Biol 8 357 66
13. TH Jukes JL King 1971 Deleterious mutations and neutral substitutions Nature 231 114 5
14. MP Miller S Kumar 2001 Understanding human disease mutations through the use of interspecific genetic variation Hum Mol Genet 10 2319 28
15. PC Ng S Henikoff 2003 SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 3812 4
16. V Ramensky P Bork S Sunyaev 2002 Human non-synonymous SNPs: server and survey Nucleic Acids Res 30 3894 900
17. D Vitkup C Sander GM Church 2003 The amino-acid mutational spectrum of human genetic disease Genome Biol 4 R72
18. AR Venkitaraman 2002 Cancer susceptibility and the functions of BRCA1 and BRCA2 Cell 108 171 82