The 2016 ACMG Annual Clinical Genetics Meeting took place March9-11th in Tampa, Florida with over 2,200 genetic professionals in attendance. Several of Myriad’s scientists were on hand to present new data on hereditary cancer multi-gene panel testing.
You can read all of our posters online at the Myriad publications page.
Presenter: Karla Bowles, PhD, FACMG
Variants of uncertain significance (VUS) are an expected outcome of genetic testing, but can still represent a clinical challenge for healthcare providers and patients, especially considering the increased prevalence of VUS results when larger multi-gene panels are utilized.
To address this challenge, Myriad has previously developed and implemented a statistical family History Weighting Algorithm (HWA), also known as Pheno®, which accurately reclassifies VUS as pathogenic or benign.1
Historically, Pheno has been used to upgrade or downgrade variants in high-penetrance genes, including BRCA1, BRCA2, MLH1, MSH2, and MSH6. This study describes the development and validation of Pheno for application in three additional genes in which mutations are commonly found, ATM, CHEK2, and PALB2. Amongst all pathogenic variants (PVs) identified by myRisk, PVs in ATM, CHEK2 and PALB2 are second in number only toBRCA1 and BRCA2.2
This study demonstrates Pheno model’s ability to accurately downgrade variants of uncertain significance in these genes to a benign or likely benign classification, with negative predictive values of > 0.998 for ATM, CHEK2 and PALB2.
Presenter: Allie Anguiano, MS, CGC
This study assesses the utility of re-testing individuals who previously underwent single-syndrome testing (i.e., HBOC, Lynch, or FAP testing) by investigating individuals who were unaffected at the time of their negative single-syndrome testing, but later developed cancer.Among the 106 individuals who met the selection criteria, 8 (7.5%) were identified as carrying a pathogenic variant upon re-testing with Myriad myRisk®. The four specific cases highlighted in the study involved individuals who went on to develop breast cancer after testing negative for a pathogenic variant in BRCA1 or BRCA2.
This shows that utilizing a single-syndrome testing approach may miss pathogenic variants in other cancer susceptibility genes that may later result in the development of an avoidable cancer. Testing with a comprehensive panel such as myRisk increases the number of patients who are appropriate for screening and other preventative measures.
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