Farid Barquet Ramos

Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Chloe Mighton, Aya Abu‐El‐Haija, Vimla Aggarwal, Yassmine Akkari et autres

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Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer

Kara K. Landry, Michael DeSarno, Lindsay Kipnis, Farid Barquet Ramos et autres

PURPOSE In patients with a variety of malignancies undergoing multigene panel testing (MGPT), we examined the frequency of a pathogenic/likely pathogenic variant (PV) that would not have been predicted on the basis of the patient's personal and family history of cancer. METHODS …

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Prevalence of unexpected actionable germline pathogenic variants identified on broad-based multi-gene panel testing in a cohort of cancer patients.

Kara K. Landry, Michael DeSarno, Lindsay Kipnis, Farid Barquet Ramos et autres

10523 Background: Broad-based germline multi-gene panel testing (MGPT) for inherited predisposition has become increasingly common for cancer patients. Both indications for germline testing and the spectrum of genes on MGPT have expanded. We sought to examine the frequency of an unexpected pathogenic/likely …

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