Is there a role for multi-gene screening panels in patients who previously underwent noninformative genetic testing?

Autor:	Sarah H. Kim, Rebecca Yee Bassett, Melissa K. Frey, Stephanie V. Blank, Jessica Martineau
Rok vydání:	2015
Předmět:	Cancer Research medicine.medical_specialty Pathology education.field_of_study medicine.diagnostic_test business.industry Population Cancer medicine.disease Multi gene Family member Oncology Internal medicine medicine In patient Familial Cancer Single institution business education Genetic testing
Zdroj:	Journal of Clinical Oncology. 33:1536-1536
ISSN:	1527-7755 0732-183X
DOI:	10.1200/jco.2015.33.15_suppl.1536
Popis:	1536 Background: The availability of next-generation sequencing coupled with the recent discovery of multiple cancer-related genes has caused a shift away from single gene testing towards multi-gene panel testing for familial cancer syndromes. However, the utility of multi-gene panels in individuals who previously underwent noninformative genetic screening has yet to be evaluated. We aim to evaluate the use of rescreening and results of multi-gene panels in this rescreened population. Methods: We reviewed all patients who had previously undergone genetic testing for familial cancer syndromes and then underwent multi-gene panel testing at a single institution between 9/2013-11/2014. Results: One hundred and twenty-four patients with prior non multi-gene panel testing underwent multi-gene panels. One hundred patients (81%) had a history of cancer and 115 patients (93%) had at least one family member with cancer. On primary testing, no deleterious mutations were identified and 11 variants of uncertain signif...
Databáze:	OpenAIRE
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