scholarly journals Epigenetic Testing for Breast Cancer Risk Stratification

2012 ◽  
Author(s):  
David Euhus
2019 ◽  
Vol 40 (1) ◽  
Author(s):  
Svetlana Puzhko ◽  
Justin Gagnon ◽  
Jacques Simard ◽  
Bartha Maria Knoppers ◽  
Sophia Siedlikowski ◽  
...  

2020 ◽  
Vol 17 (10) ◽  
pp. 1285-1288
Author(s):  
Claire C. Conley ◽  
Bethany L. Niell ◽  
Bianca M. Augusto ◽  
McKenzie McIntyre ◽  
Richard Roetzheim ◽  
...  

2019 ◽  
Vol 112 (3) ◽  
pp. 278-285 ◽  
Author(s):  
Parichoy Pal Choudhury ◽  
Amber N Wilcox ◽  
Mark N Brook ◽  
Yan Zhang ◽  
Thomas Ahearn ◽  
...  

Abstract Background External validation of risk models is critical for risk-stratified breast cancer prevention. We used the Individualized Coherent Absolute Risk Estimation (iCARE) as a flexible tool for risk model development and comparative model validation and to make projections for population risk stratification. Methods Performance of two recently developed models, one based on the Breast and Prostate Cancer Cohort Consortium analysis (iCARE-BPC3) and another based on a literature review (iCARE-Lit), were compared with two established models (Breast Cancer Risk Assessment Tool and International Breast Cancer Intervention Study Model) based on classical risk factors in a UK-based cohort of 64 874 white non-Hispanic women (863 patients) age 35–74 years. Risk projections in a target population of US white non-Hispanic women age 50–70 years assessed potential improvements in risk stratification by adding mammographic breast density (MD) and polygenic risk score (PRS). Results The best calibrated models were iCARE-Lit (expected to observed number of cases [E/O] = 0.98, 95% confidence interval [CI] = 0.87 to 1.11) for women younger than 50 years, and iCARE-BPC3 (E/O = 1.00, 95% CI = 0.93 to 1.09) for women 50 years or older. Risk projections using iCARE-BPC3 indicated classical risk factors can identify approximately 500 000 women at moderate to high risk (>3% 5-year risk) in the target population. Addition of MD and a 313-variant PRS is expected to increase this number to approximately 3.5 million women, and among them, approximately 153 000 are expected to develop invasive breast cancer within 5 years. Conclusions iCARE models based on classical risk factors perform similarly to or better than BCRAT or IBIS in white non-Hispanic women. Addition of MD and PRS can lead to substantial improvements in risk stratification. However, these integrated models require independent prospective validation before broad clinical applications.


2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 522-522 ◽  
Author(s):  
David J. Dabbs ◽  
Charles E. Cox ◽  
Steven Shivers ◽  
Nathaniel Bouganim ◽  
Jamil Asselah ◽  
...  

522 Background: Breast cancer risk stratification with the 70-gene signature (70-GS) provides a binary low risk (LR) or high risk (HR) result; by contrast the 21-gene assay (21-GA) provides LR, intermediate (IR), and HR results. Results from these two assays were compared for 769 patients from 5 institutions. Methods: The study included patients from McGill University (n = 86), UPMC (n = 437), USF (n = 135), Morton Plant North Bay Hospital (n = 79), and Cleveland Clinic (n = 32, all 21-GA IR). Results: With the 70-GS, 487 (63%) patients had a LR and 282 (37%) patients had a HR result. Excluding 32 cases selected for 21-GA IR results (n = 737), the 21-GA gave 369 (50%), 250 (34%), and 118 (16%) patients with LR, IR, and HR scores, respectively. Using the TAILORx cutoff, there were 134 (18%), 432 (59%), and 171 (23%) patients with LR, IR, and HR scores, respectively. There were 329 (45%) and 486 (66%) patients who were not classified in the same risk category by both assays using the clinical and TAILORx cutoffs for IR, respectively. Conclusions: In a large multi-institutional study the 70-GS and 21-GA results were discordant in 45-66% of patients, and the proportion of patients with a 21-GA score in the IR range varied from 34-59%. The 70-GS provided clinically actionable results for all patients. [Table: see text]


2021 ◽  
Author(s):  
Peh Joo Ho ◽  
Fuh Yong Wong ◽  
Wen Yee Chay ◽  
Elaine Hsuen Lim ◽  
Zi Lin Lim ◽  
...  

2008 ◽  
Vol 97 (2) ◽  
pp. 112-120 ◽  
Author(s):  
Alexander Stojadinovic ◽  
Aviram Nissan ◽  
Craig D. Shriver ◽  
Elizabeth A. Mittendorf ◽  
Mark D. Akin ◽  
...  

2019 ◽  
Vol 11 (1) ◽  
pp. 17-33 ◽  
Author(s):  
Kaan Oktay ◽  
Ashlie Santaliz-Casiano ◽  
Meera Patel ◽  
Natascia Marino ◽  
Anna Maria V. Storniolo ◽  
...  

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