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Disentangling the Babylonian speech confusion in genetic counseling: an analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic

pengarang

Aad Tibben

2000 -

Anne M Stiggelbout

Christi J van Asperen

diterbitkan dalam: Genetics in Medicine

tanggal publikasi: 2009-10-01

bahasa: Inggris

Cites articles 13

Date

Judul

Pengarang

2009-02-05

Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report

Marc S. Williams, Margaret M. McGovern
2008-08-01

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

Aad Tibben, Joel Vos, Christi J van Asperen
2008-11-01

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Maurizio Genuardi, Amanda Spurdle, Nicoline Hoogerbrugge, William David Foulkes, Diana Eccles, Douglas F. Easton
2007-04-10

Meta-analysis of BRCA1 and BRCA2 penetrance
2007-09-06

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

Douglas F. Easton, Fergus J. Couch, Alvaro Monteiro, David Goldgar, Sean V Tavtigian, Edwin Severin Iversen, Jr., Amie M Deffenbaugh
2005-12-01

No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result

Jacques Simard
2005-04-01

What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer.

Aad Tibben, Daniëlle R M Timmermans, Christi J van Asperen, Hanne Meijers-Heijboer
2003-10-24

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

Mary-Claire King
2003-05

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

Paolo Radice, Heli Nevanlinna, Håkan Olsson, Jan Lubiński, Douglas F. Easton, John Hopper, Siranoush Manoukian, Hoda Anton-Culver, Julian Peto, Paul D P Pharoah, Steven A. Narod, Antonis C Antoniou, Olli-Pekka Kallioniemi, Diana Eccles, Jacek Gronwald, Bogdan Górski
2002-04-01

Guidelines for human gene nomenclature.

Elspeth A Bruford, Ruth Lovering, Mathew W Wright
2002-06

Genetic Testing for Women Previously Diagnosed with Breast/Ovarian Cancer: Examining the Impact of BRCA1 and BRCA2 Mutation Searching

Claire Foster, Rosalind Eeles
2000

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
1998-03

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

Susan L Neuhausen, Jenny Chang-Claude, Peter Devilee, Douglas F. Easton, Michael Stratton, Julian Peto, Steven A. Narod, Simon A Gayther, Timothy Bishop, Dawn Teare

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