Table 3.
Characteristics of patients with LS identified from either a universal tumor screening program or from prior LS diagnosis or screening.a
| Patient | Age | MMR Gene | Variant | Bethesda | PREMM | GREAT | Personal and Family | |
|---|---|---|---|---|---|---|---|---|
| Criteria | ≥5% | Genetic Risk | History | |||||
| Intervention | 1 | 42 | MLH1 | c.676C>T | Y | Y | N | None |
| Arm | 2 | 70 | MSH2 | C.1618delA | Y | Y | Y | 1° Relatives: CRC (2)b |
| 3 | 57 | MSH6 | C.3939_3957dup | Y | Y | Y | 1° Relatives: CRC (1) | |
| 4 | 63 | PMS2 | C.137G>T | N | N | N | None | |
| 5 | 67 | PMS2 | ex9_10del | N | N | Y | 1° Relatives: Ovarian (1) 2° Relatives: Stomach (1) |
|
| 6 | 76 | PMS2 | C.2239A>T | N | N | N | None | |
| Prior LS diagnosis or screening | 1 | 51 | MLH1 | del of exons 16–19 | Y | Y | N/A | Previously diagnosed with CRC (1) 1° Relatives: CRC (2) |
| 2 | 31 | MLH1 | c.885–2A>G and c.80G>A | Y | Y | N/A | 1° Relatives: Unknown (1) | |
| 3 | 56 | MSH2 | del exon 8 | Y | Y | N/A | Previously diagnosed with CRC (1) | |
| 1° Relatives: Ovarian (1), Pancreatic (1) | ||||||||
| 2° Relatives: CRC (2), Breast (2), Uterine (1), Stomach (1), Brain (1), Prostate (1) | ||||||||
| 4 | 51 | MSH2 | C.2461_2462delGT | Y | Y | N/A | Previously diagnosed with Uterine Cancer (1) | |
| 1° Relatives: CRC (2), Uterine (1) | ||||||||
| 2° Relatives: CRC (2) | ||||||||
| 5 | 59 | MSH2 | c. 1968C>A | Y | Y | N/A | Previously diagnosed with Uterine Cancer (1) | |
| 1° Relatives: CRC (2), Uterine (2), Renal (1) | ||||||||
| 2° Relatives: Pancreatic (2), Uterine (1), Stomach (1) | ||||||||
| 6 | 53 | MSH2 | Not specified | Y | Y | N/A | Previously diagnosed with Rectal (1) | |
| 7 | 64 | MSH2, EPCAM | EPCAM 3’ terminal deletion | Y | Y | N/A | 1° Relatives: CRC (2), Small Intestine (1), Bile Duct (1), Pancreatic (1) 2° Relatives: Gastric (2), CRC (2) | |
| 8 | 51 | MSH6 | C.3203C>T | Y | Y | N/A | 1° Relatives: CRC (1) 2° Relatives: CRC (1), Gastric (1) |
|
| 9 | 50 | MSH6 | C.3203C>T | Y | Y | N/A | 1° Relatives: CRC (1), Renal Pelvis (1) 2° Relatives: CRC (1), Stomach (1) |
|
| 10 | 64 | PMS2 | C.631C>T | Y | Y | N/A | 2° Relatives: Pancreatic (2) | |
| 11 | 76 | PMS2 | C.736_741del6 | Y | Y | N/A | 1° Relatives: CRC (1) | |
| 12 | 76 | PMS2 | c.736_741del6ins11 | Y | Y | N/A | 1° Relatives: CRC (1) |
N/A = not available.
a
Family size was similar between LS cases in intervention arm and those with prior LS diagnosis or selective screening.
b
The number in parentheses indicates the number of relatives with the indicated type of cancer and degree of relationship.