Genetic Counselor Archives

9Jan2018

riskScore Validations Study

January 9, 2018

Myriad was excited to present the validation study for riskScore^TM at this year’s annual San Antonio Breast Cancer Symposium, which showed riskScore’s great clinical value.

As you know, riskScore is a clinically validated risk model that can help provide a personalized risk of breast cancer for eligible patients*. The model does this by assessing over 80 Single Nucleotide Polymorphisms (SNPs) known to be associated with breast cancer, combined with the Tyrer-Cuzick** model.

Summary of the validation study

1. The remaining lifetime and 5-year breast cancer risk estimates determined by riskScore were highly significant

2. riskScore added significant breast cancer risk discrimination independent of that captured by Tyrer-Cuzick for both remaining lifetime risk and 5-year risk

Resources to help you review and understand this data

1. Webinar with the lead author, Elisha Hughes, PhD, walking through the methodology and results in detail: https://vimeo.com/247363805

2. The poster presentation from the San Antonio Breast Cancer Symposium:https://myriad-web.s3.amazonaws.com/publications/45923666-SABCS%202017%20Hughes_Presented%20on%20December%206,%202017.pdf

3. Your local Myriad Account Executive and Regional Medical Specialist

4. Myriad’s Medical Services Department: 800-469-7423 ext. 3850 or emailinghelpmed@myriad.com

16Feb2016

How is homologous recombination deficiency (HRD) identified?

February 16, 2016

Homologous recombination deficiency (HRD) is a cellular weakness resulting from the disruption of a major DNA repair pathway. HRD status can be identified by tumor testing. Because the homologous recombination (HR) pathway can be disrupted by many mechanisms beyond just genetic mutations, relying solely on gene sequencing may miss tumors with other causes of HRD, both known (such as promoter methylation) and unknown.

Relying solely on gene sequencing may miss tumors with other causes of HRD

Myriad’s newest companion diagnostic, myChoice^TM HRD, is an algorithmic measurement of three biomarkers associated with homologous recombination deficiency, combined with next-generation sequencing of the BRCA1 and BRCA2 genes in the tumor. The three biomarkers, loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST), have all been individually shown to be associated with BRCA1/2 deficiency.¹

1. Timms KM et al. Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes. Breast Cancer Research (2014). 16:475.
2. Timms KM et al. DNA repair deficiencies in ovarian cancer: Genomic analysis of high grade serous ovarian tumors from the NOVA study. Presented at ESMO 2015 Congress.
3. myChoice HRD CDx is considered investigational and has not been reviewed or approved by the FDA.

26Jan2016

New Data Shared at AACR-IASLC

January 26, 2016

New Data Shared at AACR-IASLC

As part of Myriad’s ongoing commitment to advance the science of lung cancer care, we shared exciting new data at this year’s AACR-IASLC International Joint Conference in San Diego. Here is a quick recap of the poster presentation targeted at improving patient outcomes in early stage lung cancer.

Background:

Recurrence and lung cancer mortality in resected, early stage non-small cell lung cancer (NSCLC) are likely due to the presence of micro-metastatic disease not detected during surgery or the pre-surgical assessment. The aim of this study was to validate cell cycle progression gene expression (CCP Score) and the molecular Prognostic Score as predictors of 5-year distant recurrence-free survival in a cohort of surgically treated lung adenocarcinomas without adjuvant treatment.

Conclusions:

The CCP score and the molecular prognostic score are independent prognostic markers of 5-year distant recurrence in patients with early stage lung adenocarcinoma treated with surgery, independent of age, tumor size and pleural invasion.
The prediction of risk of distant recurrence in resected lung adenocarcinoma patients can be improved over that obtained by the current standard of pathological stage by incorporating tumor expression of proliferation markers (CCP score).
Improved risk stratification can help identify patients in need of additional treatment and prioritize patients for trials of emerging new therapies.

Click here to view the full version of this poster