Genomic Ascertainment of -Related Cancer Predisposition

What is the cancer risk in adults who harbor a pathogenic or likely pathogenic germline variant when ascertained genomically?In a case-control study of 2 large population- and health system–based cohorts with a total of 636 815 participants, individuals with heterozygous variants had a significantly increased risk for all cancer; breast, kidney, bladder, and prostate cancer; and lymphoid leukemia, although cancer risk was generally lower compared with phenotypically ascertained cohorts. There were no significant differences in survival between case participants with cancer vs control participants with cancer.These findings suggest that the method of ascertainment matters when estimating risk and should be considered in clinical decision-making.

Corresponding Author: Douglas R. Stewart, MD, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Dr, Room 6E450, Rockville, MD, 20850 (drstewart@mail.nih.gov).

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