Literature DB >> 10571952

Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript.

H Ozcelik, R Nedelcu, V W Chan, X H Shi, J Murphy, B Rosen, I L Andrulis.   

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Year:  1999        PMID： 10571952     DOI： 10.1002/(SICI)1098-1004(199912)14:6<540::AID-HUMU13>3.0.CO;2-C

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  6 in total

1.  Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

Authors:  Virginie Caux-Moncoutier; Sabine Pagès-Berhouet; Dorothée Michaux; Bernard Asselain; Laurent Castéra; Antoine De Pauw; Bruno Buecher; Marion Gauthier-Villars; Dominique Stoppa-Lyonnet; Claude Houdayer
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

2.  Functional pre- mRNA trans-splicing of coactivator CoAA and corepressor RBM4 during stem/progenitor cell differentiation.

Authors:  Yang S Brooks; Guanghu Wang; Zheqiong Yang; Kimberly K Smith; Erhard Bieberich; Lan Ko
Journal:  J Biol Chem       Date:  2009-05-05       Impact factor: 5.157

3.  An ELISA-based high throughput protein truncation test for inherited breast cancer.

Authors:  Mark J Lim; Gabriel J Foster; Sadanand Gite; Heather P Ostendorff; Steven Narod; Kenneth J Rothschild
Journal:  Breast Cancer Res       Date:  2010-10-04       Impact factor: 6.466

4.  Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Authors:  Phillip J Whiley; Michael T Parsons; Jennifer Leary; Kathy Tucker; Linda Warwick; Belinda Dopita; Heather Thorne; Sunil R Lakhani; David E Goldgar; Melissa A Brown; Amanda B Spurdle
Journal:  PLoS One       Date:  2014-01-28       Impact factor: 3.240

5.  Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Authors:  Maxime P Vallée; Tonya L Di Sera; David A Nix; Andrew M Paquette; Michael T Parsons; Russel Bell; Andrea Hoffman; Frans B L Hogervorst; David E Goldgar; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2016-04-15       Impact factor: 4.878

6.  Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Authors:  Mara Colombo; Giovanna De Vecchi; Laura Caleca; Claudia Foglia; Carla B Ripamonti; Filomena Ficarazzi; Monica Barile; Liliana Varesco; Bernard Peissel; Siranoush Manoukian; Paolo Radice
Journal:  PLoS One       Date:  2013-02-22       Impact factor: 3.240
  6 in total

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