Literature DB >> 15741995

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.

Geraldine R Vink, Christi J van Asperen, Peter Devilee, Martijn H Breuning, Egbert Bakker.   

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Year:  2005        PMID： 15741995     DOI： 10.1038/sj.ejhg.5201379

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  12 in total

1.  BRCA1/2 test results impact risk management attitudes, intentions, and uptake.

Authors:  Suzanne C O'Neill; Heiddis B Valdimarsdottir; Tiffani A Demarco; Beth N Peshkin; Kristi D Graves; Karen Brown; Karen E Hurley; Claudine Isaacs; Sharon Hecker; Marc D Schwartz
Journal:  Breast Cancer Res Treat       Date:  2010-04-10       Impact factor: 4.872

2.  Distress and psychosocial needs of a heterogeneous high risk familial cancer population.

Authors:  Tara E Power; John W Robinson; Peter Bridge; Francois P Bernier; Dawna M Gilchrist
Journal:  J Genet Couns       Date:  2011-04-21       Impact factor: 2.537

3.  Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives.

Authors:  Eveline de Geus; Cora M Aalfs; Fred H Menko; Rolf H Sijmons; Mathilde G E Verdam; Hanneke C J M de Haes; Ellen M A Smets
Journal:  Int J Behav Med       Date:  2015-08

4.  A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

Authors:  Leila Mohammadi; Maaike P Vreeswijk; Rogier Oldenburg; Ans van den Ouweland; Jan C Oosterwijk; Annemarie H van der Hout; Nicoline Hoogerbrugge; Marjolijn Ligtenberg; Margreet G Ausems; Rob B van der Luijt; Charlotte J Dommering; Johan J Gille; Senno Verhoef; Frans B Hogervorst; Theo A van Os; Encarna Gómez García; Marinus J Blok; Juul T Wijnen; Quinta Helmer; Peter Devilee; Christi J van Asperen; Hans C van Houwelingen
Journal:  BMC Cancer       Date:  2009-06-29       Impact factor: 4.430

5.  Detecting BRCA2 protein truncation in tissue biopsies to identify breast cancers that arise in BRCA2 gene mutation carriers.

Authors:  Patrice Watson; Rita Lieberman; Carrie Snyder; Vanessa J Clark; Henry T Lynch; Jeffrey T Holt
Journal:  J Clin Oncol       Date:  2009-07-20       Impact factor: 44.544

6.  Cognitive and emotional factors predicting decisional conflict among high-risk breast cancer survivors who receive uninformative BRCA1/2 results.

Authors:  Christine Rini; Suzanne C O'Neill; Heiddis Valdimarsdottir; Rachel E Goldsmith; Lina Jandorf; Karen Brown; Tiffani A DeMarco; Beth N Peshkin; Marc D Schwartz
Journal:  Health Psychol       Date:  2009-09       Impact factor: 4.267

7.  Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes.

Authors:  Brian H Shirts; Angela Jacobson; Gail P Jarvik; Brian L Browning
Journal:  Genet Med       Date:  2013-12-19       Impact factor: 8.822

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

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

9.  Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

Authors:  Perry G Ridge; Christine Miller; Pinar Bayrak-Toydemir; D Hunter Best; Rong Mao; Jeffrey J Swensen; Elaine Lyon; Karl V Voelkerding
Journal:  J Clin Bioinforma       Date:  2013-01-23

10.  Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer.

Authors:  A Brédart; J L Kop; A Depauw; O Caron; S Sultan; D Leblond; A Fajac; B Buecher; M Gauthier-Villars; C Noguès; C Flahault; D Stoppa-Lyonnet; S Dolbeault
Journal:  Br J Cancer       Date:  2013-03-05       Impact factor: 7.640
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