Literature DB >> 22869870

Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.

James D Fackenthal1, Younghee Lee, Olufunmilayo I Olopade.   

Abstract

The first mutation that disrupts BRCA2 mRNA by including a novel, cryptic exon is reported in this issue. The mutation lies deep within an intron and would not have been detected by conventional screening methods. In the future, more mutations may be discovered by direct mRNA analysis. ©2012 AACR.

Entities:  

Mesh：

Year:  2012        PMID： 22869870      PMCID： PMC4536549          DOI： 10.1158/1078-0432.CCR-12-2090

Source DB:  PubMed          Journal:  Clin Cancer Res        ISSN： 1078-0432            Impact factor:   12.531


  12 in total

1.  Chromatin density and splicing destiny: on the cross-talk between chromatin structure and splicing.

Authors:  Schraga Schwartz; Gil Ast
Journal:  EMBO J       Date:  2010-04-20       Impact factor: 11.598

Review 2.  New insights into RNA secondary structure in the alternative splicing of pre-mRNAs.

Authors:  Yongfeng Jin; Yun Yang; Peng Zhang
Journal:  RNA Biol       Date:  2011-05-01       Impact factor: 4.652

3.  Improved splice site detection in Genie.

Authors:  M G Reese; F H Eeckman; D Kulp; D Haussler
Journal:  J Comput Biol       Date:  1997       Impact factor: 1.479

4.  Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Authors:  Mads Thomassen; Ana Blanco; Marco Montagna; Thomas V O Hansen; Inge S Pedersen; Sara Gutiérrez-Enríquez; Mireia Menéndez; Laura Fachal; Marta Santamariña; Ane Y Steffensen; Lars Jønson; Simona Agata; Phillip Whiley; Silvia Tognazzo; Eva Tornero; Uffe B Jensen; Judith Balmaña; Torben A Kruse; David E Goldgar; Conxi Lázaro; Orland Diez; Amanda B Spurdle; Ana Vega
Journal:  Breast Cancer Res Treat       Date:  2011-07-19       Impact factor: 4.872

Review 5.  Genetic susceptibility to breast cancer.

Authors:  Nasim Mavaddat; Antonis C Antoniou; Douglas F Easton; Montserrat Garcia-Closas
Journal:  Mol Oncol       Date:  2010-05-21       Impact factor: 6.603

6.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

Authors:  D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

7.  Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

Authors:  Rita Nanda; L Philip Schumm; Shelly Cummings; James D Fackenthal; Lise Sveen; Foluso Ademuyiwa; Melody Cobleigh; Laura Esserman; Noralane M Lindor; Susan L Neuhausen; Olufunmilayo I Olopade
Journal:  JAMA       Date:  2005-10-19       Impact factor: 56.272

8.  Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study.

Authors:  Susan M Domchek; Tara M Friebel; Susan L Neuhausen; Theresa Wagner; Gareth Evans; Claudine Isaacs; Judy E Garber; Mary B Daly; Rosalind Eeles; Ellen Matloff; Gail E Tomlinson; Laura Van't Veer; Henry T Lynch; Olufunmilayo I Olopade; Barbara L Weber; Timothy R Rebbeck
Journal:  Lancet Oncol       Date:  2006-03       Impact factor: 41.316

9.  Understanding mechanisms underlying human gene expression variation with RNA sequencing.

Authors:  Joseph K Pickrell; John C Marioni; Athma A Pai; Jacob F Degner; Barbara E Engelhardt; Everlyne Nkadori; Jean-Baptiste Veyrieras; Matthew Stephens; Yoav Gilad; Jonathan K Pritchard
Journal:  Nature       Date:  2010-03-10       Impact factor: 49.962

10.  Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.

Authors:  Rusdy Ghazali Malueka; Yutaka Takaoka; Mariko Yagi; Hiroyuki Awano; Tomoko Lee; Ery Kus Dwianingsih; Atsushi Nishida; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  BMC Genet       Date:  2012-03-31       Impact factor: 2.797
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  1 in total

1.  Extensive Alternative Splicing of KIR Transcripts.

Authors:  Jesse Bruijnesteijn; Marit K H van der Wiel; Nanine de Groot; Nel Otting; Annemiek J M de Vos-Rouweler; Neubury M Lardy; Natasja G de Groot; Ronald E Bontrop
Journal:  Front Immunol       Date:  2018-12-04       Impact factor: 7.561
  1 in total

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