Clinical characteristics and presence of CH in a cohort of 66 patients with CAC
| CAC case # . | Gene . | Protein change . | Variant allele frequency . | IBD type . | Age at cancer diagnosis (years) . | Cancer stage at diagnosis . | Primary site . | Classification of primary site . | Vital status (0 = alive, 1 = dead) . | Overall survival from cancer diagnosis (months) . | Site of first metastasis . | Chemo exposure before sequencing . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | UC | 55 | 3 | R colon | Right (R) side | 1 | 30.4 | Liver | Y | |||
| 2 | UC | 55 | 3 | Rectum | Left (L) side | 1 | 43.7 | Bone | Y | |||
| 3 | UC | 44 | 1 | Rectum | L side | 1 | 116.4 | Lung | N | |||
| 4 | UC | 29 | 3 | Rectum | L side | 0 | 155.7 | Pelvis | Y | |||
| 5 | UC | 48 | 3 | Sigmoid colon | L side | 1 | 35.5 | Peritoneum, small intestine | Y | |||
| 6 | Crohn’s | 57 | 2 | Rectum | L side | 0 | 61.1 | N/A | N | |||
| 7 | Crohn’s | 55 | 3 | Ascending colon | R side | 1 | 18.7 | Lung, peritoneum | Y | |||
| 8 | MGA | R2529Kfs*9 | 0.124 | Crohn’s | 64 | 4 | Descending colon | L side | 1 | 1.9 | Peritoneum | N |
| 9 | CHEK2 | A392V | 0.071 | Crohn’s | 70 | 4 | Sigmoid | L side | 0 | 120.3 | Liver | Y |
| 10 | DNMT3A | C494F | 0.035 | UC | 36 | 4 | Rectosigmoid | L side | 1 | 131.2 | Liver | Y |
| 11 | Crohn’s | 48 | 4 | L colon | L side | 1 | 18.1 | Peritoneum | N | |||
| 12 | Crohn’s | 29 | 3 | Sigmoid | L side | 1 | 34.0 | Peritoneum, pelvis | Y | |||
| 13 | Crohn’s | 37 | 2 | Ileum | R side | 0 | 0.7 | N/A | N | |||
| 14 | UC | 31 | 4 | Transverse colon | R side | 1 | 32.2 | Liver | Y | |||
| 15 | Crohn’s | 54 | 1 | Rectal | L side | 0 | 67.0 | N/A | N | |||
| 16 | Crohn’s | 43 | 3 | Rectal | L side | 1 | 55.0 | Lymph nodes | Y | |||
| 17 | MDC1 | R1882* | 0.02 | Crohn’s | 35 | 4 | Rectal | L side | 1 | 19.9 | Liver, lung, bone | N |
| 18 | UC | 55 | 4 | Sigmoid | L side | 1 | 5.0 | Pelvis, ovary | Y | |||
| 19 | ABL1 | S1120L | 0.043 | Crohn’s | 58 | 3 | Rectal | L side | 1 | 31.0 | Pelvis | Y |
| 20 | Crohn’s | 57 | 3 | Rectal | L side | 1 | 28.3 | Peritoneum | N | |||
| 21 | Crohn’s | 57 | 3 | Small intestine | Small intestine | 1 | 56.8 | Peritoneum | Y | |||
| 22 | Crohn’s | 52 | 2 | Ileum | Small intestine | 0 | 52.8 | N/A | N | |||
| 23 | Crohn’s | 38 | 2 | Ileum | Small intestine | 0 | 50.8 | N/A | N | |||
| 24 | UC | 45 | 1 | Rectal | L side | 0 | 60.3 | N/A | N | |||
| 25 | Crohn’s | 57 | 4 | Ileum | Small intestine | 1 | 17.5 | Liver | N | |||
| 26 | DNMT3A | R742Gfs*37 | 0.03 | Crohn’s | 35 | 4 | Rectum | L side | 1 | 13.5 | Liver | Y |
| 27 | Crohn’s | 38 | 3 | Rectal | L side | 0 | 83.9 | Pelvis | Y | |||
| 28 | DNMT3B | R497Q | 0.028 | UC | 67 | 3 | Rectosigmoid | L side | 0 | 43.4 | N/A | N |
| 29 | Crohn’s | 51 | 3 | Rectum | L side | 0 | 40.7 | Lymph nodes | N | |||
| 30 | UC | 51 | 3 | Sigmoid | L side | 1 | 34.5 | Liver | Y | |||
| 31 | UC | 65 | 4 | Distal transverse | L side | 1 | 44.9 | Liver | Y | |||
| 32 | UC | 52 | 3 | Rectum | L side | 1 | 20.9 | Lung, liver, bone | N | |||
| 33 | Crohn’s | 64 | 2 | Small intestine | Small intestine | 1 | 18.6 | Bone, liver, lymph nodes, lungs | N | |||
| 34 | Crohn’s | 43 | 4 | Rectum | L side | 0 | 23.2 | Skin | Y | |||
| 35 | Crohn’s | 46 | 4 | Transverse colon | R side | 0 | 32.4 | Peritoneum | N | |||
| 36 | UC | 62 | 4 | Rectum | L side | 1 | 42.9 | Liver, lymph nodes | Y | |||
| 37 | Crohn’s | 70 | 2 | Ileum | Small intestine | 0 | 88.6 | Lung, lymph nodes | Y | |||
| 38 | UC | 75 | 4 | Sigmoid | L side | 1 | 8.5 | Pelvis | Y | |||
| 39 | Crohn’s | 57 | 3 | Anal fistula | Anal fistula | 0 | 33.3 | Lymph nodes | Y | |||
| 40 | UC | 63 | 0 | Descending colon | L side | 0 | 25.0 | N/A | N | |||
| 41 | Crohn’s | 60 | 4 | Ileum | Small intestine | 1 | 13.4 | Liver | Y | |||
| 42 | UC | 67 | 1 | Rectosigmoid | L side | 0 | 60.8 | N/A | N | |||
| 43 | UC | 49 | 1 | Rectum | L side | 0 | 57.4 | N/A | N | |||
| 44 | UC | 56 | 3 | Transverse colon, descending | L side | 0 | 20.5 | N/A | N | |||
| 45 | Crohn’s | 37 | 2 | Cecum | R side | 0 | 21.5 | N/A | N | |||
| 46 | Crohn’s | 39 | 4 | Cecum | R side | 0 | 9.7 | Liver | Y | |||
| 47 | UC | 36 | 4 | Ascending colon | R side | 1 | 7.2 | Liver | Y | |||
| 48 | UC | 63 | 2 | Descending colon | L side | 0 | 22.7 | N/A | Y | |||
| 49 | UC | 54 | 4 | Rectum | L side | 0 | 19.5 | Liver | N | |||
| 50 | Crohn’s | 53 | 4 | Splenic flexure | L side | 0 | 26.4 | Peritoneum | Y | |||
| 51 | Crohn’s | 38 | 3 | Sigmoid | L side | 0 | 1.6 | N/A | N | |||
| 52 | UC | 52 | 4 | Rectum | L side | 0 | 19.3 | Lymph nodes | N | |||
| 53 | UC | 32 | 4 | Transverse colon | R side | 0 | 22.2 | Liver | N | |||
| 54 | CREBBP | R2344W | 0.013 | Crohn’s | 36 | 3 | Ascending colon | R side | 0 | 2.8 | N/A | N |
| SH2B3 | H158P | 0.023 | ||||||||||
| 55 | UC | 50 | 3 | Rectum | L side | 0 | 18.2 | N/A | N | |||
| 56 | Crohn’s | 43 | 4 | Cecum | R side | 0 | 35.3 | Liver | Y | |||
| 57 | UC | 56 | 4 | Sigmoid | L side | 0 | 19.1 | Peritoneum, ovaries | N | |||
| 58 | DNMT3A | R882H | 0.015 | UC | 45 | 4 | Rectum | L side | 0 | 28.9 | Lymph nodes | Y |
| PBRM1 | R836Q | 0.076 | ||||||||||
| 59 | UC | 36 | 4 | Sigmoid | L side | 1 | 12.2 | Peritoneum | N | |||
| 60 | Crohn’s | 64 | 1 | Rectum | L side | 0 | 20.3 | N/A | N | |||
| 61 | Crohn’s | 49 | 1 | Ileum | Small intestine | 0 | 5.3 | N/A | N | |||
| 62 | Crohn’s | 63 | 4 | Cecum / terminal ileum | R side | 0 | 5.9 | Liver, regional nodal, peritoneum | N | |||
| 63 | UC | 69 | CIS (0) | Rectum | L side | 0 | 2.7 | N/A | N | |||
| 64 | UC | 46 | 4 | Rectosigmoid | L side | 0 | 3.7 | Peritoneum | N | |||
| 65 | UC | 32 | 4 | Ascending colon | R side | 1 | 14.8 | Peritoneum | N | |||
| 66 | Crohn’s | 24 | 4 | Hepatic flexure | R side | 0 | 0.5 | Lymph nodes | N |
| CAC case # . | Gene . | Protein change . | Variant allele frequency . | IBD type . | Age at cancer diagnosis (years) . | Cancer stage at diagnosis . | Primary site . | Classification of primary site . | Vital status (0 = alive, 1 = dead) . | Overall survival from cancer diagnosis (months) . | Site of first metastasis . | Chemo exposure before sequencing . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | UC | 55 | 3 | R colon | Right (R) side | 1 | 30.4 | Liver | Y | |||
| 2 | UC | 55 | 3 | Rectum | Left (L) side | 1 | 43.7 | Bone | Y | |||
| 3 | UC | 44 | 1 | Rectum | L side | 1 | 116.4 | Lung | N | |||
| 4 | UC | 29 | 3 | Rectum | L side | 0 | 155.7 | Pelvis | Y | |||
| 5 | UC | 48 | 3 | Sigmoid colon | L side | 1 | 35.5 | Peritoneum, small intestine | Y | |||
| 6 | Crohn’s | 57 | 2 | Rectum | L side | 0 | 61.1 | N/A | N | |||
| 7 | Crohn’s | 55 | 3 | Ascending colon | R side | 1 | 18.7 | Lung, peritoneum | Y | |||
| 8 | MGA | R2529Kfs*9 | 0.124 | Crohn’s | 64 | 4 | Descending colon | L side | 1 | 1.9 | Peritoneum | N |
| 9 | CHEK2 | A392V | 0.071 | Crohn’s | 70 | 4 | Sigmoid | L side | 0 | 120.3 | Liver | Y |
| 10 | DNMT3A | C494F | 0.035 | UC | 36 | 4 | Rectosigmoid | L side | 1 | 131.2 | Liver | Y |
| 11 | Crohn’s | 48 | 4 | L colon | L side | 1 | 18.1 | Peritoneum | N | |||
| 12 | Crohn’s | 29 | 3 | Sigmoid | L side | 1 | 34.0 | Peritoneum, pelvis | Y | |||
| 13 | Crohn’s | 37 | 2 | Ileum | R side | 0 | 0.7 | N/A | N | |||
| 14 | UC | 31 | 4 | Transverse colon | R side | 1 | 32.2 | Liver | Y | |||
| 15 | Crohn’s | 54 | 1 | Rectal | L side | 0 | 67.0 | N/A | N | |||
| 16 | Crohn’s | 43 | 3 | Rectal | L side | 1 | 55.0 | Lymph nodes | Y | |||
| 17 | MDC1 | R1882* | 0.02 | Crohn’s | 35 | 4 | Rectal | L side | 1 | 19.9 | Liver, lung, bone | N |
| 18 | UC | 55 | 4 | Sigmoid | L side | 1 | 5.0 | Pelvis, ovary | Y | |||
| 19 | ABL1 | S1120L | 0.043 | Crohn’s | 58 | 3 | Rectal | L side | 1 | 31.0 | Pelvis | Y |
| 20 | Crohn’s | 57 | 3 | Rectal | L side | 1 | 28.3 | Peritoneum | N | |||
| 21 | Crohn’s | 57 | 3 | Small intestine | Small intestine | 1 | 56.8 | Peritoneum | Y | |||
| 22 | Crohn’s | 52 | 2 | Ileum | Small intestine | 0 | 52.8 | N/A | N | |||
| 23 | Crohn’s | 38 | 2 | Ileum | Small intestine | 0 | 50.8 | N/A | N | |||
| 24 | UC | 45 | 1 | Rectal | L side | 0 | 60.3 | N/A | N | |||
| 25 | Crohn’s | 57 | 4 | Ileum | Small intestine | 1 | 17.5 | Liver | N | |||
| 26 | DNMT3A | R742Gfs*37 | 0.03 | Crohn’s | 35 | 4 | Rectum | L side | 1 | 13.5 | Liver | Y |
| 27 | Crohn’s | 38 | 3 | Rectal | L side | 0 | 83.9 | Pelvis | Y | |||
| 28 | DNMT3B | R497Q | 0.028 | UC | 67 | 3 | Rectosigmoid | L side | 0 | 43.4 | N/A | N |
| 29 | Crohn’s | 51 | 3 | Rectum | L side | 0 | 40.7 | Lymph nodes | N | |||
| 30 | UC | 51 | 3 | Sigmoid | L side | 1 | 34.5 | Liver | Y | |||
| 31 | UC | 65 | 4 | Distal transverse | L side | 1 | 44.9 | Liver | Y | |||
| 32 | UC | 52 | 3 | Rectum | L side | 1 | 20.9 | Lung, liver, bone | N | |||
| 33 | Crohn’s | 64 | 2 | Small intestine | Small intestine | 1 | 18.6 | Bone, liver, lymph nodes, lungs | N | |||
| 34 | Crohn’s | 43 | 4 | Rectum | L side | 0 | 23.2 | Skin | Y | |||
| 35 | Crohn’s | 46 | 4 | Transverse colon | R side | 0 | 32.4 | Peritoneum | N | |||
| 36 | UC | 62 | 4 | Rectum | L side | 1 | 42.9 | Liver, lymph nodes | Y | |||
| 37 | Crohn’s | 70 | 2 | Ileum | Small intestine | 0 | 88.6 | Lung, lymph nodes | Y | |||
| 38 | UC | 75 | 4 | Sigmoid | L side | 1 | 8.5 | Pelvis | Y | |||
| 39 | Crohn’s | 57 | 3 | Anal fistula | Anal fistula | 0 | 33.3 | Lymph nodes | Y | |||
| 40 | UC | 63 | 0 | Descending colon | L side | 0 | 25.0 | N/A | N | |||
| 41 | Crohn’s | 60 | 4 | Ileum | Small intestine | 1 | 13.4 | Liver | Y | |||
| 42 | UC | 67 | 1 | Rectosigmoid | L side | 0 | 60.8 | N/A | N | |||
| 43 | UC | 49 | 1 | Rectum | L side | 0 | 57.4 | N/A | N | |||
| 44 | UC | 56 | 3 | Transverse colon, descending | L side | 0 | 20.5 | N/A | N | |||
| 45 | Crohn’s | 37 | 2 | Cecum | R side | 0 | 21.5 | N/A | N | |||
| 46 | Crohn’s | 39 | 4 | Cecum | R side | 0 | 9.7 | Liver | Y | |||
| 47 | UC | 36 | 4 | Ascending colon | R side | 1 | 7.2 | Liver | Y | |||
| 48 | UC | 63 | 2 | Descending colon | L side | 0 | 22.7 | N/A | Y | |||
| 49 | UC | 54 | 4 | Rectum | L side | 0 | 19.5 | Liver | N | |||
| 50 | Crohn’s | 53 | 4 | Splenic flexure | L side | 0 | 26.4 | Peritoneum | Y | |||
| 51 | Crohn’s | 38 | 3 | Sigmoid | L side | 0 | 1.6 | N/A | N | |||
| 52 | UC | 52 | 4 | Rectum | L side | 0 | 19.3 | Lymph nodes | N | |||
| 53 | UC | 32 | 4 | Transverse colon | R side | 0 | 22.2 | Liver | N | |||
| 54 | CREBBP | R2344W | 0.013 | Crohn’s | 36 | 3 | Ascending colon | R side | 0 | 2.8 | N/A | N |
| SH2B3 | H158P | 0.023 | ||||||||||
| 55 | UC | 50 | 3 | Rectum | L side | 0 | 18.2 | N/A | N | |||
| 56 | Crohn’s | 43 | 4 | Cecum | R side | 0 | 35.3 | Liver | Y | |||
| 57 | UC | 56 | 4 | Sigmoid | L side | 0 | 19.1 | Peritoneum, ovaries | N | |||
| 58 | DNMT3A | R882H | 0.015 | UC | 45 | 4 | Rectum | L side | 0 | 28.9 | Lymph nodes | Y |
| PBRM1 | R836Q | 0.076 | ||||||||||
| 59 | UC | 36 | 4 | Sigmoid | L side | 1 | 12.2 | Peritoneum | N | |||
| 60 | Crohn’s | 64 | 1 | Rectum | L side | 0 | 20.3 | N/A | N | |||
| 61 | Crohn’s | 49 | 1 | Ileum | Small intestine | 0 | 5.3 | N/A | N | |||
| 62 | Crohn’s | 63 | 4 | Cecum / terminal ileum | R side | 0 | 5.9 | Liver, regional nodal, peritoneum | N | |||
| 63 | UC | 69 | CIS (0) | Rectum | L side | 0 | 2.7 | N/A | N | |||
| 64 | UC | 46 | 4 | Rectosigmoid | L side | 0 | 3.7 | Peritoneum | N | |||
| 65 | UC | 32 | 4 | Ascending colon | R side | 1 | 14.8 | Peritoneum | N | |||
| 66 | Crohn’s | 24 | 4 | Hepatic flexure | R side | 0 | 0.5 | Lymph nodes | N |