Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

Human Molecular Genetics

Volumn 10, Issue 4, 2001, Pages 353-360

  Vallon Christersson, Johan ^a   Cayanan, Charmagne ^f   Haraldsson, Karin ^a   Loman, Niklas ^a   Bergthorsson, Jon Thor ^b   Broøndum Nielsen, Karen ^c   Gerdes, Anne Marie ^d   Moøller, Pål ^e   Kristoffersson, Ulf ^a   Olsson, Håkan ^a   Borg, Åke ^a   Monteiro, Alvaro N A ^f,g,h  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d Illinois   (Denmark)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

^f STRANG CANCER PREVENTION CENTER   (United States)

^g WEILL CORNELL MEDICAL COLLEGE   (United States)

^h ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ADULT; ANALYSIS; ARTICLE; ASSAY; BREAST CANCER; CANCER FAMILY; CANCER INHIBITION; CANCER SUSCEPTIBILITY; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FAMILIAL CANCER; GENE DELETION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GERM LINE; HUMAN; HUMAN CELL; MAMMAL CELL; MISSENSE MUTATION; MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; SCANDINAVIA; TRANSACTIVATION; TUMOR SUPPRESSOR GENE; YEAST;

FALLOPIA; MAMMALIA;

EID: 0035864827     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.4.353     Document Type: Article

References (37)

1. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
2. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
3. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
4. BRCA1 protein products. Functional motifs
5. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins
6. From BRCA1 to RAP1: A wide-spread BRCT module closely associated with DNA repair
7. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome
8. Insights into the functions of BRCA1 and BRCA2
9. BRCA1: Exploring the links to transcription
10. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells
11. Association of BRCA1 with Rad51 in mitotic and meiotic cells
12. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response
13. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
14. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage
15. Induction of phosphorylation on BRCA1 during the cell cycle and after DNA damage
16. BRCA1 required for transcription-coupled repair of oxidative DNA damage
17. A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability
18. Evidence for a transcriptional activation function of BRCA1 C-terminal region
19. Transcriptional activation by BRCA1
20. BRCA1 is a component of the RNA polymerase II holoenzyme
21. BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A
22. BRCA1 interaction with RNA polymerase II reveals a role for hRPB2 and hRPB10alpha in activated transcription
23. Yeast-based assays for detection and characterization of mutations in BRCA1
24. Functional assay for BRCA1: Mutagenesis of the COOH-terminal region reveals critical residues for transcription activation
25. Genetic analysis of BRCA1 function in a defined tumor cell line
26. Common BRCA1 variants and transcriptional activation
27. Human BRCA1 inhibits growth in yeast: Potential use in diagnostic testing
28. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinaviam familial breast cancer
29. Structure of an XRCC1 BRCT domain: A new protein-protein interaction module
30. Sequence analysis of the rat Brca1 homolog and its promoter region
31. Human, canine and murine BRCA1 genes: Sequence comparison among species
32. Correlation of two-hybrid affinity data with in vitro measurements
33. Construction of an improved host strain for two hybrid screening
34. Elimination of false positives that arise in using the two-hybrid system
35. Two-hybrid system/interaction traps
36. A eukaryotic transcriptional activator bearing the DNA specificity of a prokaryotic repressor
37. Signal transduction within the nucleus by mitogen-activated protein kinase