Literature DB >> 16792514

A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.

Mads Thomassen1, Torben A Kruse, Peter K A Jensen, Anne-Marie Gerdes.   

Abstract

We report here the functional characterisation of a missense mutation c.7235G>A in BRCA2. By reverse transcriptase polymerase chain reaction the mutation is demonstrated to cause skipping of exon 13. We conclude that the mutation is most likely deleterious.

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Year:  2006        PMID： 16792514     DOI： 10.1089/gte.2006.10.116

Source DB:  PubMed          Journal:  Genet Test        ISSN： 1090-6576


  4 in total

1.  Functional assays for classification of BRCA2 variants of uncertain significance.

Authors:  Daniel J Farrugia; Mukesh K Agarwal; Vernon S Pankratz; Amie M Deffenbaugh; Dmitry Pruss; Cynthia Frye; Linda Wadum; Kiley Johnson; Jennifer Mentlick; Sean V Tavtigian; David E Goldgar; Fergus J Couch
Journal:  Cancer Res       Date:  2008-05-01       Impact factor: 12.701

2.  Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

Authors:  Samantha M Rosen; Mugdha Joshi; Talia Hitt; Alan H Beggs; Pankaj B Agrawal
Journal:  Hum Mol Genet       Date:  2020-07-29       Impact factor: 6.150

Review 3.  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

4.  Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Authors:  Eva Machackova; Lenka Foretova; Mirka Lukesova; Petra Vasickova; Marie Navratilova; Ilse Coene; Hana Pavlu; Veronika Kosinova; Jitka Kuklova; Kathleen Claes
Journal:  BMC Cancer       Date:  2008-05-20       Impact factor: 4.430
  4 in total

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