Literature DB >> 18853249

Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu.

Ana Peixoto, Catarina Santos, Patrícia Rocha, Pedro Pinto, Susana Bizarro, Manuel R Teixeira.   

Abstract

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Year:  2008        PMID: 18853249     DOI: 10.1007/s10549-008-0214-z

Source DB:  PubMed          Journal:  Breast Cancer Res Treat        ISSN: 0167-6806            Impact factor:   4.872


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  4 in total

1.  Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.

Authors:  Miguel A M Moreira; Irina G Bobrovnitchaia; Maria Angélica F D Lima; Anna Cláudia E Santos; Jesus P Ramos; Kelly R L Souza; Ana Peixoto; Manuel R Teixeira; Fernando R Vargas
Journal:  Fam Cancer       Date:  2012-12       Impact factor: 2.375

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.  Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.

Authors:  Patricia Ashton-Prolla; Fernando Regla Vargas
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

4.  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
  4 in total

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