The inherited genetic contribution and polygenic risk score for risk of CLL and MBL: a narrative review

Geffen Kleinstern, Susan L. Slager

Research output: Contribution to journalReview articlepeer-review

Abstract

Chronic lymphocytic leukemia (CLL) is a neoplasm of B-cells in the blood and monoclonal B-cell lymphocytosis (MBL) is a precursor state to CLL. This narrative review provides an overview of the genetic studies that identified 43 common variants associated with risk of CLL among individuals of European ancestry. Emerging studies found that ∼50% of these variants are associated with MBL risk. Moreover, the polygenic risk score (PRS) calculated from these CLL variants has been shown to be a robust predictor for both CLL and MBL risk among European ancestry individuals but a weak predictor among African ancestry individuals. By summarizing these genetic studies, we conclude that additional studies are needed in other race/ethnic populations to identify race-specific susceptibility variants, that functional studies are needed to validate the biological mechanisms of the variants, and that the clinical utility of the PRS is limited until preventive strategies for CLL are developed.

Original languageAmerican English
Pages (from-to)788-798
Number of pages11
JournalLeukemia and Lymphoma
Volume64
Issue number4
Early online date28 Dec 2022
DOIs
StatePublished - Apr 2023

Keywords

  • CLL
  • MBL
  • PRS

All Science Journal Classification (ASJC) codes

  • Hematology
  • Oncology
  • Cancer Research

Fingerprint

Dive into the research topics of 'The inherited genetic contribution and polygenic risk score for risk of CLL and MBL: a narrative review'. Together they form a unique fingerprint.

Cite this