Literature DB >> 20932271

Do-it-yourself genetic testing.

Steven L Salzberg, Mihaela Pertea.   

Abstract

We developed a computational screen that tests an individual's genome for mutations in the BRCA genes, despite the fact that both are currently protected by patents.

Entities:  

Mesh：

Year:  2010        PMID： 20932271      PMCID： PMC3218655          DOI： 10.1186/gb-2010-11-10-404

Source DB:  PubMed          Journal:  Genome Biol        ISSN： 1474-7596            Impact factor:   13.583


  15 in total

1.  A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.

Authors:  C S Healey; A M Dunning; M D Teare; D Chase; L Parker; J Burn; J Chang-Claude; A Mannermaa; V Kataja; D G Huntsman; P D Pharoah; R N Luben; D F Easton; B A Ponder
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

2.  The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.

Authors:  Amanda B Spurdle; John L Hopper; Xiaoqing Chen; Gillian S Dite; Jisheng Cui; Margaret R E McCredie; Graham G Giles; Sarah Ellis-Steinborner; Deon J Venter; Beth Newman; Melissa C Southey; Georgia Chenevix-Trench
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2002-04       Impact factor: 4.254

3.  Intellectual property. Enhanced: intellectual property landscape of the human genome.

Authors:  Kyle Jensen; Fiona Murray
Journal:  Science       Date:  2005-10-14       Impact factor: 47.728

4.  No association between BRCA2 N372H and breast cancer risk.

Authors:  David G Cox; Susan E Hankinson; David J Hunter
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2005-05       Impact factor: 4.254

5.  Cancer risks in BRCA2 mutation carriers.

Authors: 
Journal:  J Natl Cancer Inst       Date:  1999-08-04       Impact factor: 13.506

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.  Cancer Incidence in BRCA1 mutation carriers.

Authors:  Deborah Thompson; Douglas F Easton
Journal:  J Natl Cancer Inst       Date:  2002-09-18       Impact factor: 13.506

8.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

Authors:  Y Miki; J Swensen; D Shattuck-Eidens; P A Futreal; K Harshman; S Tavtigian; Q Liu; C Cochran; L M Bennett; W Ding
Journal:  Science       Date:  1994-10-07       Impact factor: 47.728

9.  Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

Authors:  Tom Walsh; Silvia Casadei; Kathryn Hale Coats; Elizabeth Swisher; Sunday M Stray; Jake Higgins; Kevin C Roach; Jessica Mandell; Ming K Lee; Sona Ciernikova; Lenka Foretova; Pavel Soucek; Mary-Claire King
Journal:  JAMA       Date:  2006-03-22       Impact factor: 56.272

10.  Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

Authors:  T S Frank; S A Manley; O I Olopade; S Cummings; J E Garber; B Bernhardt; K Antman; D Russo; M E Wood; L Mullineau; C Isaacs; B Peshkin; S Buys; V Venne; P T Rowley; S Loader; K Offit; M Robson; H Hampel; D Brener; E P Winer; S Clark; B Weber; L C Strong; A Thomas
Journal:  J Clin Oncol       Date:  1998-07       Impact factor: 44.544
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  9 in total

Review 1.  Personalized cancer medicine and the future of pathology.

Authors:  H Moch; P R Blank; M Dietel; G Elmberger; K M Kerr; J Palacios; F Penault-Llorca; G Rossi; T D Szucs
Journal:  Virchows Arch       Date:  2011-12-06       Impact factor: 4.064

2.  Regulation of POU4F3 gene expression in hair cells by 5' DNA in mice.

Authors:  M Masuda; D Dulon; K Pak; L M Mullen; Y Li; L Erkman; A F Ryan
Journal:  Neuroscience       Date:  2011-09-19       Impact factor: 3.590

3.  2010 translational bioinformatics year in review.

Authors:  Russ B Altman; Katharine S Miller
Journal:  J Am Med Inform Assoc       Date:  2011 Jul-Aug       Impact factor: 4.497

4.  Swabbing students: should universities be allowed to facilitate educational DNA testing?

Authors:  Shawneequa L Callier
Journal:  Am J Bioeth       Date:  2012       Impact factor: 11.229

Review 5.  Translational bioinformatics: linking the molecular world to the clinical world.

Authors:  R B Altman
Journal:  Clin Pharmacol Ther       Date:  2012-06       Impact factor: 6.875

6.  A national agenda for the future of pathology in personalized medicine: report of the proceedings of a meeting at the Banbury Conference Center on genome-era pathology, precision diagnostics, and preemptive care: a stakeholder summit.

Authors:  Peter J Tonellato; James M Crawford; Mark S Boguski; Jeffrey E Saffitz
Journal:  Am J Clin Pathol       Date:  2011-05       Impact factor: 2.493

7.  The Future of Children's Health in the Genomic Era.

Authors:  Alan L Schwartz
Journal:  Rambam Maimonides Med J       Date:  2011-07-31

8.  Considerations for clinical read alignment and mutational profiling using next-generation sequencing.

Authors:  Gavin R Oliver
Journal:  F1000Res       Date:  2012-07-16

Review 9.  Implementing genomic medicine in the clinic: the future is here.

Authors:  Teri A Manolio; Rex L Chisholm; Brad Ozenberger; Dan M Roden; Marc S Williams; Richard Wilson; David Bick; Erwin P Bottinger; Murray H Brilliant; Charis Eng; Kelly A Frazer; Bruce Korf; David H Ledbetter; James R Lupski; Clay Marsh; David Mrazek; Michael F Murray; Peter H O'Donnell; Daniel J Rader; Mary V Relling; Alan R Shuldiner; David Valle; Richard Weinshilboum; Eric D Green; Geoffrey S Ginsburg
Journal:  Genet Med       Date:  2013-01-10       Impact factor: 8.822
  9 in total

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