Clinical features of the patients studied
| Phenotype | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family | ID | Age1-150 | Sex | Gastrointestinal tract1-160 | Skin | Skeletal | CNS | Cardiac | Breast | Thyroid | Other | Additional information |
| W | 3 | 47 | F | Caecal Ca aged 47, jejunal JPs and adenomas, TA | ||||||||
| W | 2 | 14 | F | 100+JPs | ||||||||
| W | 1 | 32 | F | Ca colon (transverse) aged 32, | BBD | Hyper | ||||||
| SK | 1 | 13 | F | Multiple colonic polyps (mixed, Ad and JPs) | ||||||||
| SRO | 1 | 13 | F | Multiple JPs | P | |||||||
| SS | 1 | 29 | F | (50+) JPs | Niece Ca colon (25); sister Ca pancreas; father Ca larynx and stomach | |||||||
| SV | 1 | 12 | M | Sigmoid and rectal polyps (50+) | Father Ca colon aged 48; Pat. uncle Ca colon aged 50 | |||||||
| SH | 1 | 1 | M | Multiple colonic polyps, resection aged 8 | CLP, PD | |||||||
| SC | 1 | 16 | M | Colonic (30-50) | MC | |||||||
| SD | 1 | 15 | M | Jejunal polpys | CD | |||||||
| SR | 1 | 4 | F | Recto-sigmoid and Caecal polyps (50+) | VSD | |||||||
| AF | 1 | 16 | M | Colonic polyps (4) | Father JPs and Ca colon1-165 | |||||||
| SCA | 1 | 27 | F | Multiple sigmoid polyps | ||||||||
| 3 | 3.5 | 37 | M | Colonic and gastric polyps | ||||||||
| 4.2 | 6 | M | Ileal, jejunal, colonic, and rectal polyps; Ca ileum; Ca stomach | |||||||||
| 2.3 | 65 | F | Colonic and rectal polyps | ML | ||||||||
| 10 | 102 | 41 | F | Ca colon | ||||||||
| 202 | 21 | M | Ileum and colon | |||||||||
| 201 | 24 | M | Multiple | |||||||||
| 1 | 204 | 32 | F | Small bowel, colonic and gastric polyps (JPs and Ad, 20+); Ca ileum aged 49; intussusception | Sister, lymphoma aged 42, Ca breast aged 54. | |||||||
| 302 | 16 | M | Colonic polyps | |||||||||
| 301 | 21 | F | Colonic polyps (20) | |||||||||
| 6 | 302 | 23 | M | Colonic and small intestinal polyps (50+) | MC | |||||||
| 402 | 9 | F | Colonic polyps | |||||||||
| 201 | 55 | F | Colonic polyps (3) | |||||||||
| 401 | 12 | M | Colonic polyps (2) | |||||||||
| 11 | 4.4 | 18 | M | Colonic polyps (3) | HT | |||||||
| 3.5 | 30 | M | Colonic polyps | FK | SR | |||||||
| 8 | 1.2 | 50 | F | Ca colon aged 50 | ||||||||
| 3.1 | 20 | M | Caecal polyps | |||||||||
| 2.1 | 18 | F | Multiple JPS; Ca stomach | |||||||||
| 9 | 301 | 17 | M | Colonic polyps | ||||||||
| 203 | 19 | F | JPs and Ad polyps in colon | BK | ||||||||
| 302 | 4 | M | Colonic polyps | AS and CO | ||||||||
| 15 | 502 | 14 | M | Multiple colonic polyps | CL | |||||||
| 305 | 51 | F | Ca colon (transverse) aged 51, multiple colonic polyps | Hypo | Brother Ca colon aged 38, multiple colonic polyps | |||||||
| 306 | 43 | M | Colonic polyps (10) | |||||||||
| 308 | 61 | M | Caecal Ca aged 61 | |||||||||
| 405 | 48 | F | Multiple colonic polyps | CL | AR | Hyper | OVC | |||||
| 12 | 204 | 8 | M | Multiple colonic polyps; Ca jejunum | SAH | |||||||
| 206 | 8 | M | Multiple colonic polyps | |||||||||
| 201 | 7 | M | Polyposis at autopsy | |||||||||
| 307 | 4 | F | Florid colonic polyposis; small intestinal polyps (22); Ca small intestine aged 27. | OVC | ||||||||
| 304 | 22 | F | Caecal and colonic polyps | |||||||||
| 308 | 17 | M | Multiple (TA, Ad and JP) in colon and duodenum; Ca jejunum | MC | ||||||||
| 203 | 7 | M | Ca jejunum aged 37 | Schiz | ||||||||
| 16 | 102 | 19 | F | Ca colon aged 60 | BBD | |||||||
| 301 | 13 | F | 20+ polyps | |||||||||
| 302 | 14 | M | Multiple colonic polyps | |||||||||
| 201 | 32 | M | Multiple polyps in colon and stomach | |||||||||
| 17 | 202 | NK | M | >100 gastric JPs, 8 colorectal JPs | ||||||||
| 203 | NK | M | Gastric JPs | ML | ||||||||
| 20 | 201 | NK | F | Extensive polyposis, colectomy aged 45 | ||||||||
| 301 | NK | F | Colorectal JPs; colectomy aged 21 | OVC | ||||||||
| BL | 101 | 39 | M | Colonic polyps (TA +Ad) | ||||||||
| 201 | 6 | F | >100 JP, exocrine pancreatic insufficiency | Short stature, development delay | ||||||||
↵1-150 At diagnosis (NK, not known);
↵1-160 number of polyps in parentheses;
↵1-165 familial case but only index case analysed.
Ad, adenoma; AR, aortic regurgitation; AS, aortic stenosis; BBD, benign breast disease; BK, bifid kidney; Ca, Cancer; CD, conduction defect; CLP, cleft palate; CL, clinodactylyl; CO, coarctation; FK, excessive freckling; HT, hypertelorism; Hyper, hyperthyroidism; Hypo, hypothyroidism; JPs, juvenile polyps; MC, marcocephaly; ML, multiple lipomas; OVC, ovarian cyst; P, poryphria; PD, polydactylyl; SAH, subarchnoid haemorrhage; Schiz, schizophrenia; SR, Schatski ring; TA, tubular adenoma; VSD, ventricular septal defect.