TY - JOUR
T1 - Personalized Screening and Prevention Based on Genetic Risk of Breast Cancer
AU - Pederson, Holly J.
AU - Pruthi, Sandhya
N1 - Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2022/6
Y1 - 2022/6
N2 - Purpose of Review: This paper discusses personalized risk assessment and screening, incorporating genetic and radiomic breast cancer risk information. The paper further explores opportunities to incorporate genomic information into traditional risk assessment tools, to improve the discriminatory accuracy of these tools, and integrate the information into clinical decision-making. Recent Findings: We summarize screening guidelines, strategies for identifying high risk women and discuss clinical validation studies of polygenic risk scores (PRSs). We describe the options for supplemental imaging. Both sensitivity and specificity are improving in this area, and testing is more available. Summary: Personalized screening and chemoprevention will only be possible with improved risk estimates (including breast density and PRS), meaningful, consistent shared-decision making conversations, and widespread availability of modalities for supplemental imaging. Future directions include earlier genetic testing and further validation of the PRS, particularly in non-European populations, a focus on breast density and texture in risk estimation and management and education efforts around risk communication.
AB - Purpose of Review: This paper discusses personalized risk assessment and screening, incorporating genetic and radiomic breast cancer risk information. The paper further explores opportunities to incorporate genomic information into traditional risk assessment tools, to improve the discriminatory accuracy of these tools, and integrate the information into clinical decision-making. Recent Findings: We summarize screening guidelines, strategies for identifying high risk women and discuss clinical validation studies of polygenic risk scores (PRSs). We describe the options for supplemental imaging. Both sensitivity and specificity are improving in this area, and testing is more available. Summary: Personalized screening and chemoprevention will only be possible with improved risk estimates (including breast density and PRS), meaningful, consistent shared-decision making conversations, and widespread availability of modalities for supplemental imaging. Future directions include earlier genetic testing and further validation of the PRS, particularly in non-European populations, a focus on breast density and texture in risk estimation and management and education efforts around risk communication.
KW - Breast cancer prevention
KW - FAST MRI
KW - Genetics
KW - Personalized medicine
KW - Polygenic Risk Score
KW - Risk-based screening
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U2 - 10.1007/s12609-022-00443-5
DO - 10.1007/s12609-022-00443-5
M3 - Review article
AN - SCOPUS:85126796585
SN - 1943-4588
VL - 14
SP - 17
EP - 28
JO - Current Breast Cancer Reports
JF - Current Breast Cancer Reports
IS - 2
ER -