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Items: 1 to 20 of 76

1.

A recombination-based method to characterize human BRCA1 missense variants.

Guidugli L, Rugani C, Lombardi G, Aretini P, Galli A, Caligo MA.

Breast Cancer Res Treat. 2011 Jan;125(1):265-72. doi: 10.1007/s10549-010-1112-8.

PMID:
20737206
2.

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Caligo MA, Bonatti F, Guidugli L, Aretini P, Galli A.

Hum Mutat. 2009 Jan;30(1):123-33. doi: 10.1002/humu.20817.

PMID:
18680205
3.

Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants.

Di Cecco L, Melissari E, Mariotti V, Iofrida C, Galli A, Guidugli L, Lombardi G, Caligo MA, Iacopetti P, Pellegrini S.

Eur J Cancer. 2009 Aug;45(12):2187-96. doi: 10.1016/j.ejca.2009.04.025.

PMID:
19493677
4.

The role of BRCA1 in non-homologous end-joining.

Bau DT, Mau YC, Shen CY.

Cancer Lett. 2006 Aug 18;240(1):1-8. Review.

PMID:
16171943
5.

Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1.

Bau DT, Fu YP, Chen ST, Cheng TC, Yu JC, Wu PE, Shen CY.

Cancer Res. 2004 Jul 15;64(14):5013-9.

6.

Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.

Crugliano T, Quaresima B, Gaspari M, Faniello MC, Romeo F, Baudi F, Cuda G, Costanzo F, Venuta S.

Int J Biochem Cell Biol. 2007;39(1):220-6.

PMID:
17005433
7.

Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.

Iofrida C, Melissari E, Mariotti V, Guglielmi C, Guidugli L, Caligo MA, Pellegrini S.

BMC Cancer. 2012 May 30;12:207. doi: 10.1186/1471-2407-12-207.

8.

Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1.

Parvin J, Chiba N, Ransburgh D.

J Vis Exp. 2011 Feb 17;(48). pii: 2468. doi: 10.3791/2468.

9.

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators..

J Med Genet. 2006 Jan;43(1):74-83.

10.

Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.

Quaresima B, Faniello MC, Baudi F, Crugliano T, Di Sanzo M, Cuda G, Costanzo F, Venuta S.

Oncol Rep. 2006 Oct;16(4):811-5.

PMID:
16969499
11.

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

Chang S, Biswas K, Martin BK, Stauffer S, Sharan SK.

J Clin Invest. 2009 Oct;119(10):3160-71. doi: 10.1172/JCI39836.

12.

The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity.

Ostrow KL, McGuire V, Whittemore AS, DiCioccio RA.

Cancer Genet Cytogenet. 2004 Sep;153(2):177-80.

PMID:
15350310
13.

Classification of BRCA1 missense variants of unknown clinical significance.

Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN.

J Med Genet. 2005 Feb;42(2):138-46.

14.

Understanding germ-line mutations in BRCA1.

Szabo CI, Worley T, Monteiro AN.

Cancer Biol Ther. 2004 Jun;3(6):515-20. Review.

PMID:
15254424
15.

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.

Balia C, Galli A, Caligo MA.

Breast Cancer Res Treat. 2011 Oct;129(3):1001-9. doi: 10.1007/s10549-011-1607-y.

PMID:
21671020
16.

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators..

Cancer Res. 2006 Feb 15;66(4):2019-27.

17.

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN.

Cancer Res. 2004 Jun 1;64(11):3790-7.

18.

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

19.

An analysis of unclassified missense substitutions in human BRCA1.

Tavtigian SV, Samollow PB, de Silva D, Thomas A.

Fam Cancer. 2006;5(1):77-88.

PMID:
16528611
20.

Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.

Guénard F, Labrie Y, Ouellette G, Joly Beauparlant C, Simard J, Durocher F; INHERIT BRCAs..

J Hum Genet. 2008;53(7):579-91. doi: 10.1007/s10038-008-0285-z.

PMID:
18414782
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