Figure 1 | Genetics in Medicine

Figure 1

From: POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

Figure 1

Pedigrees of the families with germ-line POLD1 variants. Demonstrated pathogenic variants are indicated in bold, and variants of unknown significance are shown in regular case. Filled symbol, cancer; centered gray circle, presence of ≥2 polyps (adenomatous or hyperplastic); +, mutation carrier; −, wild-type. Ages at information gathering or at death (†), when available, are indicated on the top-left corner. Probands are depicted by an arrow. End, endometrial cancer; Br, breast cancer; Lymph, lymphoma.

Back to article page