TY - JOUR
T1 - Potential utility of risk stratification for multicancer screening with liquid biopsy tests
AU - Kim, Elle S.
AU - Scharpf, Robert B.
AU - Garcia-Closas, Montserrat
AU - Visvanathan, Kala
AU - Velculescu, Victor E.
AU - Chatterjee, Nilanjan
N1 - Funding Information:
This research has been conducted using the UK Biobank Resource under Application Number 6 17712. This work was supported in part by was supported by grants from the National Human Genome Research Institute [1 R01 HG010480-01] and the National Cancer Institute [1 1U01CA249866-01, CA121113, CA233259], Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, the Gray Foundation, the Commonwealth Foundation, and the Cole Foundation. R.B.S. is a founder and consultant of Delfi Diagnostics. We thank members of our laboratories and Dr. Bert Vogelstein (Ludwig Center at Johns Hopkins University School of Medicine) for his comments on the manuscript.
Funding Information:
This research has been conducted using the UK Biobank Resource under Application Number 6 17712. This work was supported in part by was supported by grants from the National Human Genome Research Institute [1 R01 HG010480-01] and the National Cancer Institute [1 1U01CA249866-01, CA121113, CA233259], Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, the Gray Foundation, the Commonwealth Foundation, and the Cole Foundation. R.B.S. is a founder and consultant of Delfi Diagnostics. We thank members of our laboratories and Dr. Bert Vogelstein (Ludwig Center at Johns Hopkins University School of Medicine) for his comments on the manuscript.
Publisher Copyright:
© 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging non-invasive multicancer early detection (MCED) liquid biopsy tests. We develop and validate sex-specific pan-cancer risk scores (PCRSs), defined by the combination of body mass index, smoking, family history of cancers, and cancer-specific polygenic risk scores (PRSs), to predict the absolute risk of developing at least one of the many common cancer types. We demonstrate the added value of PRSs in improving the predictive performance of the risk factors only model and project the positive and negative predictive values for two promising multicancer screening tests across risk strata defined by age and PCRS.
AB - Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging non-invasive multicancer early detection (MCED) liquid biopsy tests. We develop and validate sex-specific pan-cancer risk scores (PCRSs), defined by the combination of body mass index, smoking, family history of cancers, and cancer-specific polygenic risk scores (PRSs), to predict the absolute risk of developing at least one of the many common cancer types. We demonstrate the added value of PRSs in improving the predictive performance of the risk factors only model and project the positive and negative predictive values for two promising multicancer screening tests across risk strata defined by age and PCRS.
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U2 - 10.1038/s41698-023-00377-w
DO - 10.1038/s41698-023-00377-w
M3 - Article
C2 - 37087533
AN - SCOPUS:85154040388
SN - 2397-768X
VL - 7
JO - npj Precision Oncology
JF - npj Precision Oncology
IS - 1
M1 - 39
ER -