Fig. 4: Somatic analysis performed in tumors from POLE/POLD1 variant carriers. | Genetics in Medicine

Fig. 4: Somatic analysis performed in tumors from POLE/POLD1 variant carriers.

From: Role of POLE and POLD1 in familial cancer

Fig. 4

(a) Tumor features including mismatch repair (MMR) deficiency status and mutational burden (hypermutation was considered when the tumor had more than 10 exonic Mut/Mb). aHigh-grade serous ovarian cancer. bIntestinal origin. cMicrosatellite instability (MSI) classification using Bethesda panel. C+, positive controls, i.e., tumors from carriers of variants affecting the POLE/POLD1 ED previously classified as pathogenic. (b) Mutational signature contribution (DeconstructSigs) for hyper/ultramutated tumors (>10 Mut/Mb). CRC colorectal cancer.

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