Literature DB >> 14574012

A paradox: urgent BRCA genetic testing.

G Mitchell1, A Ardern-Jones, M Kissin Mchir, R Taylor, R A Eeles.   

Abstract

Diagnostic or predictive testing for germline mutations in cancer predisposition genes is inherently slow as result of both genetic counselling and mutation analysis. The overall time taken for mutation testing is not generally perceived as harmful to the individual and may be positively beneficial in order to permit full reflection on the implication of the genetic test results. However, we present three cases where we considered urgent genetic testing for the presence of mutations in th BRCA 1 and 2 genes to be necessary as the test result would have altered the subsequent clinical management of these individuals or their families.

Entities:  

Mesh:

Year:  2001        PMID: 14574012     DOI: 10.1023/a:1011570302078

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  12 in total

1.  Pitfalls in counseling for predictive testing in Huntington disease.

Authors:  K Demyttenaere; G Evers-Kiebooms; M Decruyenaere
Journal:  Birth Defects Orig Artic Ser       Date:  1992

Review 2.  Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium.

Authors:  W Burke; M Daly; J Garber; J Botkin; M J Kahn; P Lynch; A McTiernan; K Offit; J Perlman; G Petersen; E Thomson; C Varricchio
Journal:  JAMA       Date:  1997-03-26       Impact factor: 56.272

3.  Identification of the breast cancer susceptibility gene BRCA2.

Authors:  R Wooster; G Bignell; J Lancaster; S Swift; S Seal; J Mangion; N Collins; S Gregory; C Gumbs; G Micklem
Journal:  Nature       Date:  1995 Dec 21-28       Impact factor: 49.962

Review 4.  Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium.

Authors:  W Burke; G Petersen; P Lynch; J Botkin; M Daly; J Garber; M J Kahn; A McTiernan; K Offit; E Thomson; C Varricchio
Journal:  JAMA       Date:  1997-03-19       Impact factor: 56.272

5.  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

6.  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

7.  Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium.

Authors:  A Tyler; D Ball; D Craufurd
Journal:  BMJ       Date:  1992-06-20

8.  Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Authors:  L M Mulligan; J B Kwok; C S Healey; M J Elsdon; C Eng; E Gardner; D R Love; S E Mole; J K Moore; L Papi
Journal:  Nature       Date:  1993-06-03       Impact factor: 49.962

9.  Identification and characterization of the familial adenomatous polyposis coli gene.

Authors:  J Groden; A Thliveris; W Samowitz; M Carlson; L Gelbert; H Albertsen; G Joslyn; J Stevens; L Spirio; M Robertson
Journal:  Cell       Date:  1991-08-09       Impact factor: 41.582

10.  A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

Authors:  K Savitsky; A Bar-Shira; S Gilad; G Rotman; Y Ziv; L Vanagaite; D A Tagle; S Smith; T Uziel; S Sfez; M Ashkenazi; I Pecker; M Frydman; R Harnik; S R Patanjali; A Simmons; G A Clines; A Sartiel; R A Gatti; L Chessa; O Sanal; M F Lavin; N G Jaspers; A M Taylor; C F Arlett; T Miki; S M Weissman; M Lovett; F S Collins; Y Shiloh
Journal:  Science       Date:  1995-06-23       Impact factor: 47.728

View more
  3 in total

1.  Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution.

Authors:  Elizabeth A Webb; Timothy D Smith; Richard G H Cotton
Journal:  Hum Genomics       Date:  2011-03       Impact factor: 4.639

2.  Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial.

Authors:  Marijke R Wevers; Margreet G E M Ausems; Senno Verhoef; Eveline M A Bleiker; Daniela E E Hahn; Frans B L Hogervorst; Rob B van der Luijt; Heiddis B Valdimarsdottir; Richard van Hillegersberg; Emiel J T H Rutgers; Neil K Aaronson
Journal:  BMC Cancer       Date:  2011-01-10       Impact factor: 4.430

Review 3.  Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda.

Authors:  Bettina Meiser; Kathy Tucker; Michael Friedlander; Kristine Barlow-Stewart; Elizabeth Lobb; Christobel Saunders; Gillian Mitchell
Journal:  Breast Cancer Res       Date:  2008-11-28       Impact factor: 6.466

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.