OA: Validation of the myBRCA HiRisk Hereditary Breast and Ovarian Cancer Test for Population Screening Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Saturday, December 03, 2016

OA: Validation of the myBRCA HiRisk Hereditary Breast and Ovarian Cancer Test for Population Screening



Validation of the myBRCA HiRisk Hereditary Breast and Ovarian Cancer Test for Population Screening 

authors:  ¶Veritas Genetics, Danvers, MA 01923, §Massachusetts General Hospital, Boston, MA 02114 and & Harvard Medical School, Boston, MA 02115 

 Abstract
 
The myBRCA HiRisk test is a clinical est detecting mutations in 26 genes
associated with increased risk for breast and ovarian cancer. The test is based on next-generation sequencing and multiplex PCR del/dup detection and is performed in Veritas Genetics’ CLIA approved clinical laboratory. The test utilizes saliva or whole blood and was carefully validated on a diverse set of samples with variants representing both rare and relatively common pathogenic mutations. Validation
results are described.

 The analysis was performed blinded to exclude interpretation bias. All
positives counted were pathogenic, i.e., this analysis was not “padded” by including benign polymorphisms as true positives.

Genes tested in myBRCA HiRisk
 
ATM BARD1 BLM BRCA1
BRCA2 BRIP1 CDH1 CHEK2
EPCAM* FAM175A MEN1 MLH1
MRE11A MSH2 MSH6 MUTYH
NBN PALB2 PSM2 PTEN
RAD50 RAD51C RAD51D STK11
TP53 XRCC2
*del/dup analysis only

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