Table 1.
Clinicopathologic characteristics of Caribbean Hispanic colorectal cancer patients according to MMR germline mutations and MMR protein-deficient status.
Study ID | Mutation | Gender | Age at CRC | Tumor Location | Family History of CRC | Family History LS Associated Cancers | Amsterdam (A)/Bethesda (B) |
---|---|---|---|---|---|---|---|
MLH1 | |||||||
| |||||||
8343 | c.1024del16 | F | 43 | Sigmoid | Yes | Yes | A I |
9009 | c.2044_2045del | F | 58 | Transverse | Yes | Yes | A II |
9009.02 | c.2044_2045del | M | 42 | Transverse | Yes | Yes | A II |
9009.03 | c.2044_2045del | M | 42 | Transverse | Yes | Yes | A II |
9306 | c.1024del16 | M | 39 | Descending | Yes | Yes | A I |
9306.01 | c.1024del16 | F | 35 | Yes | Yes | B | |
Pte. CUR | c.2044_2045del | M | Yes | Yes | A II | ||
Pte. MMP | c.1855delG | M | 29 | Right Colon | Yes | No | B |
| |||||||
MSH2 | |||||||
| |||||||
9106 | c.IVS5-1G>T | F | 47 | Ascending | Yes | Yes | B |
Pte. DMM | c.IVS5-1G>T | F | Endometrial (44) | Yes | Yes | B | |
9109 | c.905T>A | F | 51 | Ascending | No | Yes | A II |
9162 | c.1705delGA | F | 42 | Skin | Yes | No | A II |
9162.01 | c.1705delGA | F | Yes | No | A II | ||
9162.02* | c.1705delGA | F | - | - | Yes | No | A II |
9162.03* | c.1705delGA | F | - | - | Yes | No | A II |
9249 | c.1457del4 | F | 39 | Rectosigmoid | No | No | B |
9258 | c. del exons 1–3 | F | 57 | Yes | Yes | B | |
Pte. JCG | c. del exons 1–3 | F | 32 | Rectum | Yes | Yes | B |
9500 | c.IVS11+1G>A | M | 45 | Yes | No | B | |
Pte. HFO | c.1308insT | F | 61 | Yes | No | A I | |
9560 | c.876insC | M | Yes | No | B | ||
| |||||||
MSH6 | |||||||
| |||||||
9476 | c.3119delTT | F | 34 | Cecum | Yes | Yes | B |
| |||||||
Immunohistochemistry Analysis for MMR proteins (Absent Protein) | |||||||
| |||||||
MLH1 | |||||||
| |||||||
9124 | M | 46 | Yes | No | A II | ||
9253 | M | 22 | Colon | No | No | B | |
9413 | M | 57 | Ascending | Yes | Yes | B | |
9420 | M | 30 | Sigmoid | Yes | Yes | B | |
9473 | F | 34 | Cecum | Yes | No | B | |
| |||||||
MSH2 | |||||||
| |||||||
8313 | F | 75 | Rectum | No | Yes | A II | |
8397 | F | 59 | Sigmoid | Yes | Yes | A I | |
8160 | M | 59 | Ascending | No | Yes | B | |
9091.01 | M | 58 | Right Colon | Yes | Yes | B | |
9423 | M | 43 | Right Colon | No | Yes | B | |
17017 | M | 75 | Rectum | No | Yes | B | |
9611 | F | 40 | No | Yes | B | ||
Pte. ESO | F | 40 | Rectosigmoid | No | Yes | B |
Mutation carriers.