Literature DB >> 14513821

A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.

Jessica C Keaton1, David R Nielsen, Brant C Hendrickson, Michael T Pyne, Lauren Scheuer, Brian E Ward, Arthur R Brothman, Thomas Scholl.   

Abstract

Sequence analysis of cDNA from an asymptomatic patient belonging to a high-risk breast cancer family carrying the genetic variant BRCA1 IVS10-2A-->C revealed that functional BRCA1 mRNA was derived from only one of the patient's chromosomes. The other chromosome produced an aberrant RNA splicing transcript that deleted exon 11. Analysis of the patient's genomic DNA demonstrated that the chromosome producing the non-functional mRNA carried the genotype BRCA1 IVS10-2A-->C. This transversion disrupts a highly conserved base in the consensus splice acceptor motif. These results support the conclusion that BRCA1 IVS10-2A-->C is a mutation that confers predisposition to breast and ovarian cancer.

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Year:  2003        PMID： 14513821     DOI： 10.1007/s10038-003-0044-0

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  10 in total

1.  A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism.

Authors:  M T Pyne; D Pruss; B E Ward; T Scholl
Journal:  Mutat Res       Date:  1999-08       Impact factor: 2.433

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Review 4.  Exon recognition in vertebrate splicing.

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5.  BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.

Authors:  T Scholl; M T Pyne; D Russo; B E Ward
Journal:  Am J Med Genet       Date:  1999-07-16

6.  The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

Authors:  M T Pyne; A R Brothman; B Ward; D Pruss; B C Hendrickson; T Scholl
Journal:  J Hum Genet       Date:  2000       Impact factor: 3.172

7.  BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

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Journal:  JAMA       Date:  1997-10-15       Impact factor: 56.272

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.  Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

Authors:  L S Friedman; E A Ostermeyer; C I Szabo; P Dowd; E D Lynch; S E Rowell; M C King
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

10.  Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation.

Authors:  X Xu; K U Wagner; D Larson; Z Weaver; C Li; T Ried; L Hennighausen; A Wynshaw-Boris; C X Deng
Journal:  Nat Genet       Date:  1999-05       Impact factor: 38.330
  10 in total
  4 in total

1.  Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Authors:  P K Lovelock; S Healey; W Au; E Y M Sum; A Tesoriero; E M Wong; S Hinson; R Brinkworth; A Bekessy; O Diez; L Izatt; E Solomon; M Jenkins; H Renard; J Hopper; P Waring; S V Tavtigian; D Goldgar; G J Lindeman; J E Visvader; F J Couch; B R Henderson; M Southey; G Chenevix-Trench; A B Spurdle; M A Brown
Journal:  J Med Genet       Date:  2005-05-27       Impact factor: 6.318

2.  Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.

Authors:  Christopher Pettigrew; Nicola Wayte; Paul K Lovelock; Sean V Tavtigian; Georgia Chenevix-Trench; Amanda B Spurdle; Melissa A Brown
Journal:  Breast Cancer Res       Date:  2005-09-22       Impact factor: 6.466

3.  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

4.  Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.

Authors:  Wasanthi De Silva; Eric H Karunanayake; Kamani H Tennekoon; Marie Allen; Indrani Amarasinghe; Preethika Angunawala; Mohamed H Ziard
Journal:  BMC Cancer       Date:  2008-07-29       Impact factor: 4.430
  4 in total

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