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. 2021 Aug 18;113(12):1683–1692. doi: 10.1093/jnci/djab124

Figure 4.

Figure 4.

Germline mutation analyses. A) Germline mutations by age group. B) Distribution of germline mutations by gene and penetrance by age group. An asterisk (*) next to a gene name designates the following: MUTYH, under low penetrance, represents the presence of monoallelic MUTYH variant; APC, under low penetrance, represents the APC p. Ile130Lys germline variant, not associated with classical or attenuated familial adenomatous polyposis; CHEK2, under uncertain penetrance, represents the CHEK2 p. Ile15Thr germline variant of uncertain clinical actionability; FH, under uncertain or recessive penetrance, represents the FH p. Lys477dup variant, not associated with the high-penetrance hereditary leiomyomatosis and renal cell carcinoma syndrome; VHL, under recessive penetrance, represents VHL p. Arg200Trp, associated with a recessive form of VHL-dependent polycythemia and not Von Hippel-Lindau syndrome; EPCAM, deletion exons 2-7, under recessive penetrance, represents variant possibly associated with autosomal recessive congenital tufting enteropathy, but not Lynch syndrome.