TABLE 3.
Top 20 functional clusters overrepresented by protein truncating variant (PTV) genes found in 35 patients with familial pancreatic cancer
| Gene set name [number of genes (K)] | Description | Number of overlapping genes (k) | p‐Value | q‐Value |
|---|---|---|---|---|
| REACTOME EXTRACELLULAR MATRIX ORGANIZATION [301] | Extracellular matrix organization | 26 | 2.5 e−9 | 5.79 e−6 |
| REACTOME RHOA GTPASE CYCLE [149] | RHOA GTPase cycle | 18 | 3.96 e−9 | 5.79 e−6 |
| REACTOME RHO GTPASE CYCLE [444] | RHO GTPase cycle | 31 | 1.26 e−8 | 1.14 e−5 |
| REACTOME RNA POLYMERASE II TRANSCRIPTION [1374] | RNA Polymerase II Transcription | 63 | 1.83 e−8 | 1.14 e−5 |
| REACTOME SIGNALING BY RHO GTPASES MIRO GTPASES AND RHOBTB3 [717] | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 41 | 1.94 e−8 | 1.14 e−5 |
| NABA MATRISOME [1026] | Ensemble of genes encoding extracellular matrix and extracellular matrix‐associated proteins | 51 | 3.63 e−8 | 1.73 e−5 |
| WP INTEGRATED BREAST CANCER PATHWAY [154] | Integrated Breast Cancer Pathway | 17 | 4.15 e−8 | 1.73 e−5 |
| REACTOME COLLAGEN FORMATION [90] | Collagen formation | 13 | 6.71 e−8 | 2.2 e−5 |
| REACTOME SIGNALING BY RECEPTOR TYROSINE KINASES [504] | Signaling by Receptor Tyrosine Kinases | 32 | 6.79 e−8 | 2.2 e−5 |
| REACTOME METABOLISM OF RNA [672] | Metabolism of RNA | 38 | 8.53 e−8 | 2.33 e−5 |
| REACTOME POST TRANSLATIONAL PROTEIN MODIFICATION [1435] | Post‐translational protein modification | 63 | 8.76 e−8 | 2.33 e−5 |
| REACTOME METABOLISM OF LIPIDS [741] | Metabolism of lipids | 40 | 1.33 e−7 | 3.25 e−5 |
| REACTOME CELL CYCLE [693] | Cell Cycle | 37 | 5.11 e−7 | 1.15 e−4 |
| NABA ECM REGULATORS [238] | Genes encoding enzymes and their regulators involved in the remodeling of the extracellular matrix | 19 | 1.14 e−6 | 2.37 e−4 |
| REACTOME TRANSCRIPTIONAL REGULATION BY TP53 [363] | Transcriptional Regulation by TP53 | 24 | 1.43 e−6 | 2.62 e−4 |
| REACTOME VESICLE MEDIATED TRANSPORT [724] | Vesicle‐mediated transport | 37 | 1.44 e−6 | 2.62 e−4 |
| REACTOME COLLAGEN BIOSYNTHESIS AND MODIFYING ENZYMES [67] | Collagen biosynthesis and modifying enzymes | 10 | 1.61 e−6 | 2.66 e−4 |
| KEGG FOCAL ADHESION [199] | Focal adhesion | 17 | 1.64 e−6 | 2.66 e−4 |
| REACTOME DEGRADATION OF THE EXTRACELLULAR MATRIX [140] | Degradation of the extracellular matrix | 14 | 2.12 e−6 | 3.26 e−4 |
| NABA CORE MATRISOME [275] | Ensemble of genes encoding core extracellular matrix including ECM glycoproteins, collagens, and proteoglycans | 20 | 2.54 e−6 | 3.71 e−4 |