Literature DB >> 16488985

Cancer risk assessment at the atomic level.

Alvaro N A Monteiro1, Fergus J Couch.   

Abstract

A flurry of articles on the structure of different domains of BRCA1 and BRCA2 have not only shed light on the biology of these proteins but have also raised hopes that these data could eventually be used to infer cancer association for a large number of inherited missense mutations whose effect on protein function is unclear.

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Year:  2006        PMID： 16488985     DOI： 10.1158/0008-5472.CAN-05-3034

Source DB:  PubMed          Journal:  Cancer Res        ISSN： 0008-5472            Impact factor:   12.701


  11 in total

Review 1.  Functional assays for BRCA1 and BRCA2.

Authors:  Marcelo A Carvalho; Fergus J Couch; Alvaro N A Monteiro
Journal:  Int J Biochem Cell Biol       Date:  2006-08-18       Impact factor: 5.085

2.  Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Authors:  Marcelo A Carvalho; Sylvia M Marsillac; Rachel Karchin; Siranoush Manoukian; Scott Grist; Ramona F Swaby; Turan P Urmenyi; Edson Rondinelli; Rosane Silva; Luis Gayol; Lisa Baumbach; Rebecca Sutphen; Jennifer L Pickard-Brzosowicz; Katherine L Nathanson; Andrej Sali; David Goldgar; Fergus J Couch; Paolo Radice; Alvaro N A Monteiro
Journal:  Cancer Res       Date:  2007-02-15       Impact factor: 12.701

3.  Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Authors:  Marc Tischkowitz; Nancy Hamel; Marcelo A Carvalho; Gabriel Birrane; Aditi Soni; Erik H van Beers; Simon A Joosse; Nora Wong; David Novak; Louise A Quenneville; Scott A Grist; Petra M Nederlof; David E Goldgar; Sean V Tavtigian; Alvaro N Monteiro; John A A Ladias; William D Foulkes
Journal:  Eur J Hum Genet       Date:  2008-02-20       Impact factor: 4.246

4.  Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

Authors:  Lucia Guidugli; Hermela Shimelis; David L Masica; Vernon S Pankratz; Gary B Lipton; Namit Singh; Chunling Hu; Alvaro N A Monteiro; Noralane M Lindor; David E Goldgar; Rachel Karchin; Edwin S Iversen; Fergus J Couch
Journal:  Am J Hum Genet       Date:  2018-01-25       Impact factor: 11.025

Review 5.  Functional assays for analysis of variants of uncertain significance in BRCA2.

Authors:  Lucia Guidugli; Aura Carreira; Sandrine M Caputo; Asa Ehlen; Alvaro Galli; Alvaro N A Monteiro; Susan L Neuhausen; Thomas V O Hansen; Fergus J Couch; Maaike P G Vreeswijk
Journal:  Hum Mutat       Date:  2013-12-03       Impact factor: 4.878

6.  Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Authors:  Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf H Sijmons; Olga Sinilnikova; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

7.  A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Authors:  Douglas F Easton; Amie M Deffenbaugh; Dmitry Pruss; Cynthia Frye; Richard J Wenstrup; Kristina Allen-Brady; Sean V Tavtigian; Alvaro N A Monteiro; Edwin S Iversen; Fergus J Couch; David E Goldgar
Journal:  Am J Hum Genet       Date:  2007-09-06       Impact factor: 11.025

8.  Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Authors:  Y V Sergeev; R C Caruso; M R Meltzer; N Smaoui; I M MacDonald; P A Sieving
Journal:  Hum Mol Genet       Date:  2010-01-08       Impact factor: 6.150

9.  Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Authors:  Yuri V Sergeev; Susan Vitale; Paul A Sieving; Ajoy Vincent; Anthony G Robson; Anthony T Moore; Andrew R Webster; Graham E Holder
Journal:  Hum Mol Genet       Date:  2013-07-11       Impact factor: 6.150

10.  Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Authors:  Eric Tram; Sevtap Savas; Hilmi Ozcelik
Journal:  PLoS One       Date:  2013-05-21       Impact factor: 3.240
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