Table 1.
Clinical characteristics of serrated polyposis syndrome families. Thirty-nine SPS patients from 16 families (≥2 patients per family) were recruited in the study. Age at diagnosis is specified.
| Family | ID | Onset Age | Gender | Diagnosis | Criteria SPS | CRC | MMR +/− | Family Cancer History |
|---|---|---|---|---|---|---|---|---|
| SPS.1 | AA3519 * | 58 | M | SPS | 1 + 3 | N | N/A | Prostate (father, 82) |
| AA3520 | 62 | F | SPS | 2 | N | |||
| SPS.2 | AA3521 * | 62 | M | SPS | 1 + 3 | N | N/A | Pancreas (father, 59), Colon (mother, 78) |
| AA3522 | 59 | M | SPS | 2 | N | |||
| SPS.3 | AA3523 | 32 | M | CRC | - | Y | + | CRC (mom, 56), CRC (brother, 56), Pancreas (aunt, 60), CRC (uncle, 53), CRC (uncle, 71), CRC (cousin, 32), Brain (cousin, 32) |
| AA3524 * | 64 | F | SPS | 3 | N | |||
| SPS.4 | AA3525 | 58 | M | SPS | 3 | N | + | CRC (father, 86), Laryngeal (father, 85), Breast (aunt, 61), Breast (aunt, 56), CRC (grandfather, 61) |
| AA3526 * | 53 | F | SPS | 2 | N | |||
| SPS.5 | AA3527 | 22 | F | SPS | 3 | N | N/A | Laryngeal (grandfather, unknown age) |
| AA3528 * | 20 | M | SPS | 2 | N | |||
| SPS.6 | AA3529 | 61 | F | SPS | 3 | N | + | CRC (sister, 43), CRC (aunt, 70), Gastrointestinal (father, 54) |
| AA3530 * | 53 | F | SPS | 2 | N | |||
| SPS.7 | AA3531 * | 57 | F | SPS | 1 + 3 | Y | MLH1-/ | Lymphoma (sister, 46), Gastric (grandfather, 48) |
| AA3532 | 56 | M | SPS | 2 | N | PMS2- | ||
| SPS.8 | AA3533 * | 62 | M | SPS | 3 | N | N/A | - |
| AA3534 | 65 | M | SPS | 2 | N | |||
| SPS.9 | AA3535 | 65 | F | SPS/CRC | 2 + 3 | Y | N/A | CRC (father, 62) |
| AA3536 | 70 | F | SPS/mixed polyposis | 2 | N | |||
| AA3537 * | 64 | M | Mixed polyposis | 3 | N | |||
| SPS.10 | AA3538 | 58 | F | CRC | - | Y | + | CRC (mother, 58), Lung (mother, 70), CRC (uncle, 77), CRC (grandfather, 83), Thyroid (sister, 57), Skin (sister, 42), Liver (cousin, 28), Liver (cousin, unknown age), Skin (grandmother, unknown age) |
| AA3539 | 60 | M | SPS | 2 | N | |||
| AA3540 | 53 | F | SPS | 2 | N | |||
| AA3541 | 40 | F | SPS | 1 + 3 | N | |||
| SPS.11 | AA3559 | 39 | F | SPS | 2 | N | + | Skin (grandmother, 91), CRC (mother, 54), CRC (father, 64), Endometrial (aunt, 72), Endometrial (grandmother, 70), Ovarian teratoma (niece, 7) |
| AA3560 | 46 | F | SPS | 1 | N | |||
| AA3561 | 38 | F | SPS | 2 | N | |||
| AA3562 | 44 | M | SPS | 2 | N | |||
| AA3563 * | 54 | F | CRC | 1 | Y | |||
| AA3564 | 48 | M | SPS/adenomas | 2 | N | |||
| SPS.12 | AA3565 | 55 | M | SPS | 2 + 3 | N | + | CRC (sister, 46) |
| AA3566 * | 59 | M | SPS | 1 + 2 + 3 | N | |||
| SPS.13 | AA3567 * | 59 | M | SPS | 2 + 3 | N | N/A | Thyroid (mother, 66), Endometrial (mother, 76), Unknown cancer (father, 75) |
| AA3568 | 55 | F | SPS | 1 + 2 + 3 | N | |||
| SPS.14 | AA3569 * | 68 | M | SPS/CRC | 2 + 3 | Y | N/A | CRC (uncle, 85), Pancreas (father, 75) |
| AA3570 | 74 | M | SPS | 2 + 3 | N | |||
| SPS.15 | AA3571 | 67 | M | SPS | 2 | N | N/A | Sarcoma (father 51), Thyroid (cousin, 21), Glioma (cousin, 23) |
| AA3572 * | 38 | M | SPS | 1 + 3 | N | |||
| SPS.16 | AA3573 | 47 | F | SPS | 2 + 3 | N | MLH1-/PMS2- | Gastric (father, 72), Brain (mother, 71), Pancreas (uncle, 61), Lung (uncle, 67), Bile duct (uncle, unknown age), Gastric (grandfather, 61) |
| AA3574 | 51 | M | SPS | 2 | N |
ID, identification; M, male; F, female; SPS, serrated polyposis syndrome; MMR, mismatch repair; N/A, non-available; Y, yes; N, no; CRC, colorectal cancer; prostate, pancreas, brain, laryngeal, breast, gastrointestinal, lung, thyroid, liver, skin, endometrial, bile duct and gastric refer to the type of cancers. * Individuals with a somatic sample analyzed by WES with any cancer listed with their respective age of onset. In MMR +/−, results for immunochemistry analysis for MMR proteins (MLH1, MSH2, MSH6 and PMS2) are shown. In family cancer history, affected relatives are indicated as follows: type of cancer (relative, age at diagnosis).