Literature DB >> 10534775

Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron 2.

M Santarosa, A Viel, M Boiocchi.   

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Year:  1999        PMID： 10534775     DOI： 10.1002/(sici)1098-2264(199912)26:4<381::aid-gcc14>3.0.co;2-n

Source DB:  PubMed          Journal:  Genes Chromosomes Cancer        ISSN： 1045-2257            Impact factor:   5.006


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  5 in total

1.  Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.

Authors:  Orland Diez; Amadeu Pelegrí; Neus Gadea; Sara Gutiérrez-Enríquez; Miriam Masas; Anna Tenés; Nina Bosch; Judith Balmaña; Begoña Graña
Journal:  Oncol Lett       Date:  2011-08-19       Impact factor: 2.967

2.  An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Authors:  Danièle Muller; Etienne Rouleau; Inès Schultz; Sandrine Caputo; Cédrick Lefol; Ivan Bièche; Olivier Caron; Catherine Noguès; Jean Marc Limacher; Liliane Demange; Rosette Lidereau; Jean Pierre Fricker; Joseph Abecassis
Journal:  BMC Med Genet       Date:  2011-09-22       Impact factor: 2.103

3.  Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

Authors:  Michiel S van der Heijden; Jonathan R Brody; Elhaam Elghalbzouri-Maghrani; Malgorzata Z Zdzienicka; Scott E Kern
Journal:  BMC Genet       Date:  2006-01-17       Impact factor: 2.797

4.  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

5.  Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Authors:  Sandrine M Caputo; Mélanie Léone; Francesca Damiola; Asa Ehlen; Aura Carreira; Pascaline Gaidrat; Alexandra Martins; Rita D Brandão; Ana Peixoto; Ana Vega; Claude Houdayer; Capucine Delnatte; Myriam Bronner; Danièle Muller; Laurent Castera; Marine Guillaud-Bataille; Inge Søkilde; Nancy Uhrhammer; Sophie Demontety; Hélène Tubeuf; Gaïa Castelain; Uffe Birk Jensen; Ambre Petitalot; Sophie Krieger; Cédrick Lefol; Virginie Moncoutier; Nadia Boutry-Kryza; Henriette Roed Nielsen; Olga Sinilnikova; Dominique Stoppa-Lyonnet; Amanda B Spurdle; Manuel R Teixeira; Florence Coulet; Mads Thomassen; Etienne Rouleau
Journal:  Oncotarget       Date:  2018-04-03
  5 in total

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