On December 11, 2020 In a spotlight poster discussion at the 2020 San Antonio Breast Cancer Symposium (SABCS), Myriad Genetics (NASDAQ: MYGN), a global leader in molecular diagnostics and precision medicine, reported a new study that shows how its myRisk Hereditary Cancer and riskScore tests can better inform individualized clinical screening and prevention strategies for women at risk of developing breast cancer (Press release, Myriad Genetics, DEC 11, 2020, View Source [SID1234572653]). The new Myriad study highlights how riskScore, a proprietary tool used to evaluate a woman’s risk of developing breast cancer, can accurately provide breast cancer risk information into a personalized assessment model for women carrying a pathogenic variant (PV) in the ATM gene.
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"This new study will enable a highly personalized risk calculation for patients who carry mutations in the ATM gene," said Nicole Lambert, president of Myriad Genetic Laboratories. "As a result, women carrying gene mutations will be able to make more informed choices about how to manage their risk; if increased surveillance is sufficient or if they would consider surgical options."
Myriad’s riskScore test combines data from 20 years of genome-wide association studies with a validated algorithm that uses personal and family history. riskScore is performed in conjunction with Myriad’s myRisk Hereditary Cancer test, where myRisk identifies people who carry specific cancer-linked genetic mutations.
A summary of the study is below. Follow Myriad on Twitter via @myriadgenetics and keep up to date with SABCS meeting news and updates by using the #SACBS20 hashtag.
riskScore Poster at SABCS
Title: Development of a breast cancer risk assessment model for ATM mutation carriers incorporating Tyrer-Cuzick and a polygenic risk score
Program Number: PD10-09
Session Title: Spotlight Poster Discussion 10
This study highlights the development of a comprehensive breast cancer risk model for ATM PV carriers incorporating an 86-variant PRS, along with family history and clinical information captured by Tyrer-Cuzick (a tool used to calculate the risk of breast cancer). The study found that with ATM PV carriers (N=216), a comprehensive model allowed for differentiation of carriers into low, moderate, and high breast cancer risk categories (See figure 1 below).
To view Figure 1. Remaining Lifetime Risk for ATM PV Carriers, please visit the following link: View Source
About riskScore
riskScore is a clinically validated personalized medicine tool that enhances Myriad’s myRisk Hereditary Cancer test. riskScore helps to further predict a women’s lifetime risk of developing breast cancer using clinical risk factors and genetic markers throughout the genome. The test incorporates data from more than 80 single nucleotide polymorphisms identified through 20 years of genome wide association studies in breast cancer and was prospectively validated in our laboratory to predict breast cancer risk in women of European descent. This data is then combined with a personal history and family history algorithm, the Tyrer-Cuzick model, to provide an individualized breast cancer risk assessment. Myriad is committed to advancing the validation of risk-assessment tools and making them available to all women, regardless of ancestry.
About Myriad myRisk Hereditary Cancer
The Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.