ID Age diagnosed Sex Exon Nucleotide change (if does not say del or ins, it is stop) Protein
Trunc.		 # polyps Colon
cancer		 Extracolonic Phenotype (blank indicates that it was either not done or not mentioned) Phenotype Reference Comments
- 37 M 4 c.531+2_531+3insT (splice mut) ><147 >50 N/A attenuated Neklason 2004
T857-1 36 F 4 T del 157 <100 NO Osteoma, CHRPE - attenuated Enomoto 2000
I 64 F 4 Nonsense 161 <20 N/A attenuated Matsumoto 2002
- 40s F 4 C->T 161 ~100 NO attenuated Ionescu 2005
     II-3 66 F 4 CAG->TAG 163 50 NO Duodenal polypectomy attenuated Soravia 1998
     II-7 58 M 4 CAG->TAG 163 100 NO attenuated Soravia 1998
     III-10 30 M 4 CAG->TAG 163 1 NO attenuated Soravia 1998
     III-2 37 M 4 CAG->TAG 163 40 NO attenuated Soravia 1998
W32 31 - 4 delAATA 168 >100 N/A CHRPE - classical Bunyan 1995
5 - - 4 del 4bp 168 100 N/A attenuated Albuquerque 2002
KT29-1 26 F 4 C del 175 <100 YES None attenuated Enomoto 2000
PLK29 26 F 4 C del 175 25 YES Thyroid cancer attenuated Iwama 1999 Same as KT29-1?
     III-12 33 M 4 D Exon 4 183 3 NO attenuated Soravia 1998
     III-2 57 F 4 D Exon 4 183 <100 NO UGI normal attenuated Soravia 1998
     III-3 64 F 4 D Exon 4 183 <100 NO attenuated Soravia 1998
     III-4 52 F 4 D Exon 4 183 100 NO UGI normal attenuated Soravia 1998
     III-5 48 (57) M 4 D Exon 4 183 <100 NO attenuated Soravia 1998
     III-7 43 F 4 D Exon 4 183 150 NO Ampullectomy classical Soravia 1998
     III-8 41 F 4 D Exon 4 183 384 NO classical Soravia 1998
     III-9 51/52 F 4 D Exon 4 183 200 NO classical Soravia 1998
     IV-1 41 F 4 D Exon 4 183 <100 NO attenuated Soravia 1998
     IV-19 49 M 4 D Exon 4 183 <100 NO Duodenal adenomas attenuated Soravia 1998
     IV-2 33 F 4 D Exon 4 183 25 NO attenuated Soravia 1998
     IV-23 37 F 4 D Exon 4 183 <150  NO attenuated Soravia 1998
     IV-26 40 F 4 D Exon 4 183 20 NO UGI normal attenuated Soravia 1998
     IV-3 38 F 4 D Exon 4 183 <100 NO UGI normal attenuated Soravia 1998
     IV-30 24 M 4 D Exon 4 183 28 NO attenuated Soravia 1998
     IV-32 36 M 4 D Exon 4 183 100 NO attenuated Soravia 1998
     IV-37 46 F 4 D Exon 4 183 69 NO attenuated Soravia 1998
     IV-4 37 M 4 D Exon 4 183 <100 NO UGI normal attenuated Soravia 1998
     IV-5 42 M 4 D Exon 4 183 5 NO attenuated Soravia 1998
     IV-6 26 F 4 D Exon 4 183 1 NO UGI normal attenuated Soravia 1998
     IV-8 27 M 4 D Exon 4 183 <100 NO attenuated Soravia 1998
     V-21 37 F 4 D Exon 4 183 <100 NO attenuated Soravia 1998
     V-25 29 M 4 D Exon 4 183 <200  NO UGI normal classical Soravia 1998
     V-28 19 F 4 D Exon 4 183 41 NO UGI normal attenuated Soravia 1998
     V-32 23 F 4 D Exon 4 183 580 NO classical Soravia 1998
     V-34 38 F 4 D Exon 4 183 300 NO classical Soravia 1998
     V-37 33 F 4 D Exon 4 183 200 NO UGI normal classical Soravia 1998
     V-40 28 F 4 D Exon 4 183 <100 NO UGI normal attenuated Soravia 1998
     V-59 19 M 4 D Exon 4 183 6 NO UGI normal attenuated Soravia 1998
     V-7 20 M 4 D Exon 4 183 7 NO attenuated Soravia 1998
   II-1 59 F 4 D Exon 4 183 <100 NO attenuated Soravia 1998
     III-12 67 (83) M 4 D Exon 4 183 <100 YES attenuated Soravia 1998
     III-15 68 (72) F 4 D Exon 4 183 <100 YES attenuated Soravia 1998
     III-6 59 M 4 D Exon 4 183 <100 YES attenuated Soravia 1998
     IV-2 39 (42) M 4 D Exon 4 183 >500  YES Duodenal cancer classical Soravia 1998
     IV-30 43 M 4 D Exon 4 183 <100 YES Ampullectomy attenuated Soravia 1998
     IV-43 46 (49) F 4 D Exon 4 183 <100 YES attenuated Soravia 1998
     IV-45 50 (53) M 4 D Exon 4 183 <100 YES UGI normal attenuated Soravia 1998
     IV-47 44 M 4 D Exon 4 183 <100 YES attenuated Soravia 1998
     IV-51 38 M 4 D Exon 4 183 <100 YES Dysplastic adenomas of the stomach attenuated Soravia 1998
GD-16 39 - 5 missense 208 410 NO classical Ficari 2000
25 III/2 27 - 5 637C->T 213 <100 NO Changes in bones; CHRPE - attenuated Kohoutova 2002
T951-1 41 M C ins 214 100-5000 NO Desmoid classical Enomoto 2000
1 17 - 6 c.646 C>T 216 >1000 YES Gastric polyps aggressive Lamlum 1999
SNU-F17 31 - 6 c.646C>T 216 100-1000 YES classical Kim 2005
SNU-F29 32 - 6 c.646C>T 216 940 YES classical Won 1999
GD-21 17 - 6 stop 232 311 NO classical Ficari 2000
- - - 5 591_592delAG 250 100-1000 N/A classical Paffenholz 1994
- - - 5 595insG 250 >5000 N/A desmoids, CHRPE - aggressive Scarano 1997
W13.1 29 - 7 CAG->TAG 278 >100 N/A CHRPE - classical Bunyan 1995
W13.2 51 - 7 CAG->TAG 278 >100 N/A classical Bunyan 1995
T676-1 40 F 7 CAG->TAG 278 100-5000 NO CHRPE - classical Enomoto 2000
T396-4 33 M 7 CAG->TAG 278 100-5000 NO Atheroma classical Enomoto 2000
T396-6 41 M 7 CAG->TAG 278 100-5000 NO None classical Enomoto 2000
T396-7 26 M 7 CAG->TAG 278 100-5000 NO None classical Enomoto 2000
T396-8 28 M 7 CAG->TAG 278 100-5000 NO None classical Enomoto 2000
T396-9 32 F 7 CAG->TAG 278 100-5000 NO Gastric polyp classical Enomoto 2000
T396-10 36 M 7 CAG->TAG 278 100-5000 NO None classical Enomoto 2000
T396-11 48 F 7 CAG->TAG 278 100-5000 NO Lipoma classical Enomoto 2000
T683-1 52 F 7 CAG->TAG 278 100-5000 YES None classical Enomoto 2000
T70-1 33 F 7 CAG->TAG 278 100-5000 YES Gastric polyp, osteoma, CHRPE - classical Enomoto 2000
T396-1 40 F 7 CAG->TAG 278 100-5000 YES Gastric polyp, lipoma classical Enomoto 2000
T396-2 48 F 7 CAG->TAG 278 100-5000 YES None classical Enomoto 2000
T396-3 45 F 7 CAG->TAG 278 100-5000 YES None classical Enomoto 2000
T396-5 56 F 7 CAG->TAG 278 100-5000 YES None classical Enomoto 2000
T705-1 39 F 7 G/gt-> G/at 278 100-5000 YES Gastric polyp classical Enomoto 2000
T29-1 54 F CGA->TGA 283 100-5000 NO Gastric polyp, CHRPE - classical Enomoto 2000
T386-1 25 M CGA->TGA 302 100-5000 YES Gastric polyp, lipoma classical Enomoto 2000
- - - 8 893_894delAC 325 100-1000 N/A  CHRPE + classical De Rosa 2003
II 37 M 9 Nonsense 332 <50  N/A attenuated Matsumoto 2002
848HS 42 15 R332X 332 5 N/A attenuated Lamlum 2000 Same kindred as above?
     III-2 43 F 9 CGA->TGA 332 43 NO attenuated Soravia 1998
     III-4 35 F 9 CGA->TGA 332 20 NO attenuated Soravia 1998
     IV-1 25 M 9 CGA->TGA 332 10 NO attenuated Soravia 1998
     IV-2 30 F 9 CGA->TGA 332 2 NO attenuated Soravia 1998
     II-1 67 F 9 CGA->TGA 332 None YES attenuated Soravia 1998
     III-1 42 F 9 CGA->TGA 332 27 YES UGI normal attenuated Soravia 1998
     III-4 55 (71) M 9 del A 338 <100 NO UGI normal attenuated Soravia 1998
     III-6 53 M 9 del A 338 8 NO UGI normal attenuated Soravia 1998
     III-9 44 F 9 del A 338 <100 NO UGI normal attenuated Soravia 1998
     IV-10 36 F 9 del A 338 150 NO UGI normal attenuated Soravia 1998
     IV-12 37 M 9 del A 338 2 NO
…
attenuated Soravia 1998
     IV-17 27 F 9 del A 338 20 NO UGI normal attenuated Soravia 1998
     IV-18 16 M 9 del A 338 <100 NO UGI normal attenuated Soravia 1998
     IV-2 39 M 9 del A 338 <100 NO attenuated Soravia 1998
     IV-20 41 M 9 del A 338 2 NO attenuated Soravia 1998
     IV-9 41 (47) M 9 del A 338 2 NO attenuated Soravia 1998
     V-1 36 M 9 del A 338 28 NO attenuated Soravia 1998
     V-10 12 F 9 del A 338 1 NO attenuated Soravia 1998
     V-7 35 M 9 del A 338 <100 NO attenuated Soravia 1998
III.6 50 dagger ,dagger ,dagger ,dagger ,dagger ,dagger
F
9 1060insAAGGATGATAT 363 30-40 NO Intra-abdominal desmoid attenuated Rozen 1999
III.7 48 M 9 1060insAAGGATGATAT 363 40-50 NO None attenuated Rozen 1999
IV.6 36 F 9 1060insAAGGATGATAT 363 >100 NO Thyrotoxicosis, subcutaneous nodules classical Rozen 1999
IV.9 31 F 9 1060insAAGGATGATAT 363 10 NO None attenuated Rozen 1999
IV.10 15 F 9 1060insAAGGATGATAT 363 0 NO None attenuated Rozen 1999
IV.12 30 F 9 1060insAAGGATGATAT 363 10 NO None attenuated Rozen 1999
III.2 38 F 9 1060insAAGGATGATAT 363 0 NO None attenuated Rozen 1999
IV.1 17 M 9 1060insAAGGATGATAT 363 0 NO None attenuated Rozen 1999
IV.2 15 M 9 1060insAAGGATGATAT 363 0 NO None attenuated Rozen 1999
IV.3 13 F 9 1060insAAGGATGATAT 363 0 NO None attenuated Rozen 1999
III.3 56 F 9 1060insAAGGATGATAT 363 >100 YES classical Rozen 1999
W33.1 45 - 9 delCT 366 >40 N/A attenuated Bunyan 1995
W33.2 33 - 9 delCT 366 >10 N/A attenuated Bunyan 1995
W33.3 43 - 9 delCT 366 80 N/A attenuated Bunyan 1995
W33.4 43 - 9 delCT 366 >80 N/A CHRPE - attenuated Bunyan 1995
GD-17 39 - 9 del 367 22 NO attenuated Ficari 2000
1582RT 51 9 Q394X 394 80 YES attenuated Lamlum 2000
29 II/3 24 - 9 1270C->T 424 >100 NO CHRPE - classical Kohoutova 2002
PNU-F9 26 - 9 c.1284_1285delAC 428 2350 YES UGI polyp classical Won 1999
SNU-F44 28 - 9 c.1284_1285delAC 428 1200 YES classical Won 1999
GD-2 11 - 9 del 437 310 NO classical Ficari 2000
34 II/2 59 - 9 1225delC 453 <100 YES attenuated Kohoutova 2002
34 II/1 55 - 9 1225delC 453 <100 YES attenuated Kohoutova 2002
Family A 29 M 10 IVS9+5G>A (splice mut) 454 >100 NO CHRPE -, stomach tumor attenuated? Mihalatos 2005
5 I/2 52 - 11 1411G->T 471 >100 NO CHRPE - classical Kohoutova 2002
5 I/3 43 - 11 1411G->T 471 >100 NO CHRPE - classical Kohoutova 2002
5 I/4 39 - 11 1411G->T 471 >100 NO Osteoma, CHRPE - classical Kohoutova 2002
5 II/3 14 - 11 1411G->T 471 >100 NO classical Kohoutova 2002
5 II/6 15 - 11 1411G->T 471 <100 NO CHRPE - attenuated Kohoutova 2002
2 36 - 11 c.1438 C>T 480 100-1000 NO CHRPE - classical De Rosa 2004
SNU-F65 24 - 11 c.1438C>T 480 1000 No CHRPE classical Kim 2005
SNU-F23 31 - 11 c.1461delG 488 140 No classical Won 1999
3 26 - 12 c.1621 C>T 541 >1000 NO Gastric polyps classical Miyoshi 1992a
III 20 F 13 Nonsense 554 >1000 N/A classical Matsumoto 2002
T225-1 38 F 13 CGA->TGA 564 100-5000 YES Gastric polyp classical Enomoto 2000
2 - - 13 del 2bp 565 1000 N/A classical Albuquerque 2002
- - - 14 1797C>A 599 100-1000 N/A  CHRPE + classical De Rosa 2003
III.5 61/61 - 14 1869 G->T 600 >100 N/A classical Montera 2001 stable, truncated Dex14
IV.1 46 - 14 1869 G->T 600 >100 N/A classical Montera 2001 stable, truncated Dex14
IV.4 40 - 14 1869 G->T 600 6 N/A attenuated Montera 2001 stable, truncated Dex14
IV.10 44 - 14 1869 G->T 600 7 N/A attenuated Montera 2001 stable, truncated Dex14
IV.13 38 - 14 1869 G->T 600 0 N/A attenuated Montera 2001 stable, truncated Dex14
IV.14 34/34 - 14 1869 G->T 600 >100 N/A classical Montera 2001 stable, truncated Dex14
IV.16 36/36 - 14 1869 G->T 600 >100 N/A classical Montera 2001 stable, truncated Dex14
V.1 15 - 14 1869 G->T 600 0 N/A attenuated Montera 2001 stable, truncated Dex14
T84-3 25 F 14 TCA->TGA 622 100-5000 NO None classical Enomoto 2000
T84-4 51 M 14 TCA->TGA 622 100-5000 NO Osteoma, lipoma classical Enomoto 2000
T84-7 24 M 14 TCA->TGA 622 100-5000 NO Gastric polyp classical Enomoto 2000
T84-1 36 F 14 TCA->TAA 622 100-5000 YES Gastric polyp, lipoma, CHRPE + classical Enomoto 2000
T84-2 26 F 14 TCA->TAA 622 100-5000 YES None classical Enomoto 2000
T84-5 42 F 14 TCA->TAA 622 100-5000 YES Fibroma classical Enomoto 2000
T84-6 48 F 14 TCA->TAA 622 100-5000 YES Gastric polyp classical Enomoto 2000
T84-8 51 F 14 TCA->TAA 622 100-5000 YES None classical Enomoto 2000
IJU-F3 30 - 14 c.1863_1865delTTAincCT 622 300 YES epidermoid cyst, UGI polyp,
papillary thyroid cancer		 classical Won 1999
GD-24 27 - 14 ins 623 385 NO classical Ficari 2000
- - - 14 1879_1882delAACA 629 100-1000 N/A CHRPE + classical Scarano 1997
W19 42 - 15 CTA->CTATA 656 >1000 N/A CHRPE + aggressive Bunyan 1995
W26.1 18 - 15 TGT->T 661 100-200 N/A classical Bunyan 1995
T880-1 38 F 15 TT del 665 100-5000 YES None classical Enomoto 2000
SNU-F26 33 - 15 c.2083C>T 695 500 No CHRPE classical Kim 2005
W27 15 - 15 TGG->TGA 699 >100 N/A CHRPE + classical Bunyan 1995
SNU-F18 17 - 15 c.2096G>A 699 700 No dental anomaly, UGI polyp classical Won 1999
- - - 15 2119insT 732 100-1000 N/A classical Gismondi 1993
SNU-F35 36 - 15 c.2219_2220dupATGC 741 350 YES CHRPE classical Won 1999
SNU-F66 16 - 15 c.2232_2233dupCT 745 120 No classical Kim 2005
W28 28 - 15 delA 769 >1000 N/A CHRPE + aggressive Bunyan 1995
SNU-F4 32 - 15 c.2314delA 772 500 YES CHRPE, dental anomaly, UGI polyp classical Won 1999
SNU-F45 31 - 15 c.2413C>T 805 2200 No dental classical Kim 2005
SNU-F51 36 - 15 c.2493dupA 832 650 No classical Kim 2005
4 41 - 15 c.2522delT 841 >1000 YES Ovarian cycsts classical De Rosa 2004
- 12 F 15 2523insCTTA 843 >1000 N/A CHRPE + aggressive Scarano 1999
SNU-F41 28 - 15 c.2547_2548delTA 849 1500 YES desmoid, UGI polyp classical Won 1999
GD-18 36 - 15 stop 876 1334 YES classical Ficari 2000
5 24 - 15 c.2626 C>T 876 >5000 YES CHRPE + aggressive Miyaki 1994
- <40 - 15 2638delA 915 >100 N/A CHRPE + classical Scarano 1999
15 I/1 43 - 15 2733-4insA 918 >100 NO None classical Kohoutova 2002
15 II/1 51 - 15 2733-4insA 918 >100 NO None classical Kohoutova 2002
15 II/2 19 - 15 2733-4insA 918 >100 NO Changes in bones classical Kohoutova 2002
CCU-F1 26 - 15 c.2795C>G 932 250 YES classical Won 1999
6 20 - 15 c.2800_2803delACTT 934 >1000 NO classical Armstrong 1997
7 17 - 15 c.2802_2815del 934 100-1000 NO CHRPE + classical De Rosa 2004
T80-2 28 M 15 ACTT del 934 100-5000 NO None classical Enomoto 2000
T80-3 17 M 15 ACTT del 934 100-5000 NO Gastric polyp, osteoma classical Enomoto 2000
T80-4 20 M 15 ACTT del 934 100-5000 NO Osteoma classical Enomoto 2000
T80-1 56 M 15 ACTT del 934 100-5000 YES Gastric polyp, osteoma, CHRPE + classical Enomoto 2000
W29.1 53 - 15 TAC->TAA 935 >100 N/A CHRPE + classical Bunyan 1995
W29.2 29 - 15 TAC->TAA 935 >100 N/A classical Bunyan 1995
2 III/11 23 - 15 2805C->A 935 >100 NO Desmoid, CHRPE - classical Kohoutova 2002
2 III/4 33 - 15 2805C->A 935 >100 NO Duod. adenomas, CHRPE - classical Kohoutova 2002
8 33 - 15 c.2805delC 935 100-1000 YES classical De Rosa 2004
2 II/8 52 - 15 2805C->A 935 >100 YES Changes in bones; CHRPE + classical Kohoutova 2002
PNU-F11 53 - 15 c.2805C>A 935 950 YES classical Won 1999
PNU-F6 38 - 15 c.2805C>A 935 756 YES papillary thyroid cancer classical Won 1999
SNU-F53 28 - 15 c.2805C>G 935 126 YES UGI polyp classical Kim 2005
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
- <40 - 15 2803insA 936 >100 N/A CHRPE + classical Scarano 1999
HYU-F14 27 - 15 c.2805dupC 936 400 YES UGI polyp classical Won 1999
SNU-F60 38 - 15 c.2828C>G 943 100-1000 YES classical Kim 2005
SNU-F48 40 - 15 c.2592_2593insCT 965 350 No desmoid, classical Won 1999
T331-9 26 F 15 G ins 966 100-5000 N/A Gastric polyp, CHRPE - classical Enomoto 2000
T331-5 21 M 15 G ins 966 100-5000 NO Osteoma, CHRPE + classical Enomoto 2000
T331-6 30 F 15 G ins 966 100-5000 NO Desmoid classical Enomoto 2000
T331-8 19 F 15 G ins 966 100-5000 NO CHRPE + classical Enomoto 2000
T331-1 41 F 15 G ins 966 100-5000 YES Gastric polyp, osteoma, desmoid, epi. cyst, CHRPE + classical Enomoto 2000
T331-2 27 F 15 G ins 966 100-5000 YES Osteoma, atheroma, CHRPE + classical Enomoto 2000
T331-3 40 F 15 G ins 966 100-5000 YES Gastric polyp, osteoma classical Enomoto 2000
T331-4 25 F 15 G ins 966 100-5000 YES Gastric polyp, osteoma classical Enomoto 2000
T331-7 43 F 15 G ins 966 100-5000 YES Gastric polyp, osteoma classical Enomoto 2000
SNU-F67 24 - 15 c.2927_2928delGA 976 176 No classical Kim 2005
GD-19 16 - 15 stop 995 257 NO classical Ficari 2000
SNU-F19 25 - 15 c.2990dupA 997 450 No CHRPE classical Won 1999
HYU-F11 52 - 15 c.2995C>T 999 784 YES hepatoblastoma classical Won 1999
9 32 - 15 c.3081_3082delTA 1027 >1000 NO classical De Rosa 2004
3 - - 15 del 5bp 1060 1000 N/A classical Albuquerque 2002
W21 37 - 15 delAAAAC 1061 >100 N/A CHRPE + classical Bunyan 1995
W38 25 - 15 delAAAAC 1061 >250 N/A CHRPE + classical Bunyan 1995
GD-8 16 - 15 del 1061 285 NO classical Ficari 2000
GD-9 34 - 15 del 1061 174 NO classical Ficari 2000
T776-1 43 M 15 AAAC del 1061 100-5000 YES Gastric polyp, desmoid, CHRPE + classical Enomoto 2000
- 60 M 15 3185delAA 1062 <100 N/A CHRPE + attenuated Scarano 1999
- 35 F 15 3185delAA 1062 no sym N/A Desmoid attenuated Scarano 1999
- 35+ - 15 3185delAA 1062 no sym N/A attenuated Scarano 1999
10 II/1 30 - 15 3183-7delACAAA 1062 >100 NO Changes in bones; CHRPE - classical Kohoutova 2002
10 II/3 24 - 15 3183-7delACAAA 1062 >100 NO CHRPE - classical Kohoutova 2002
SNU-F46 29 - 15 c.3183_3187delACAAA 1062 250 No CHRPE, papillary thyroid cancer classical Won 1999
10 I/3 49 - 15 3183-7delACAAA 1062 >100 YES Desmoid, osteoma, CHRPE + classical Kohoutova 2002
10 I/2 51 - 15 3183-7delACAAA 1062 >100 YES Desmoid, osteoma, CHRPE + classical Kohoutova 2002
10 II/2 30 - 15 3183-7delACAAA 1062 >100 YES CHRPE + classical Kohoutova 2002
SNU-F10 43 - 15 c.3183_3187delACAAA 1062 2000 YES UGI polyp classical Won 1999
- - - 15 3183_3187delACAAA 1063 100-1000 N/A classical Miyashi 1992a
11 39 - 15 c.3186_3187delAA 1063 >1000 NO classical Gismondi 1997
12 49 - 15 c.3186_3187delAA 1063 100-1000 NO classical Gismondi 1997
10 34 - 15 c.3183_3187delACAAA 1063 100-1000 YES CHRPE + classical Miyoshi 1992a
GD-4 34 - 15 del 1068 850 IN SITU classical Ficari 2000
GD-4 37 - 15 del 1068 366 IN SITU classical Ficari 2000
GD-4 16 - 15 del 1068 652 NO classical Ficari 2000
13 24 - 15 c.3202_3205delTCAA 1068 >1000 NO Epidermoid cysts classical Paul 1993
T957-1 38 M 15 TCAA del 1068 100-5000 YES Osteoma classical Enomoto 2000
T934-1 49 F 15 TCAA del 1068 100-5000 YES CHRPE + classical Enomoto 2000
- - - 15 (3225T>A; 3226C>A) 1075 100-1000 N/A  CHRPE + classical De Rosa 2003
GD-13 23 - 15 stop 1075 186 NO classical Ficari 2000
GD-13 27 - 15 stop 1075 850 NO classical Ficari 2000
SNU-F30 37 - 15 c.3225T>A 1075 1200 YES CHRPE classical Won 1999
SNU-F37 31 - 15 c.3294_3295delTG 1099 1400 No CHRPE, dental anomaly, osteoma classical Won 1999
SNU-F14 61 - 15 c.3294_3295delTG 1099 1500 YES CHRPE, UGI polyp classical Won 1999
T684-1 36 M 15 C del 1102 >5000 NO Gastric polyp, osteoma, desmoid aggressive Enomoto 2000
T684-2 34 M 15 C del 1102 100-5000 NO Gastric polyp, osteoma classical Enomoto 2000
T830-1 38 M 15 TCA->TGA 1110 100-5000 NO Gastric polyp, desmoid, CHRPE + classical Enomoto 2000
GD-12 17 - 15 del 1112 208 NO classical Ficari 2000
GD-15 24 - 15 stop 1114 823 NO classical Ficari 2000
GD-15 42 - 15 stop 1114 394 NO classical Ficari 2000
W24 23 - 15 AATCAA->AA 1122 >100 N/A classical Bunyan 1995
14 42 - 15 c.3367 C>T 1123 >1000 YES Rectum polyp classical Resta 2001
16 35 - 15 3332-5delAAAC 1124 >100 NO classical Kohoutova 2002
- - - 15 3202_3205delTCAA 1125 100-1000 N/A classical Miyashi 1992b
IV 12 F 15 Frameshift, codon 1063 1129 >100 N/A classical Matsumoto 2002
IV 10 M 15 Frameshift, codon 1063 1129 >100 N/A classical Matsumoto 2002
SNU-F71 47 - 15 c.3426delT 1142 240 YES classical Kim 2005
SNU-F63 58 - 15 c.3502_3506delGAAGA 1168 300 YES classical Kim 2005
15 34 - 15 c.3510delA 1170 >1000 YES CHRPE + classical De Rosa 2004
SNU-F13 58 - 15 c.3553-3557delACAGA 1185 400 YES classical Park 1994
W6 26 - 15 A->AA 1187 >100 N/A CHRPE + classical Bunyan 1995
W31 28 - 15 A->AA 1193 >1000 N/A CHRPE + classical Bunyan 1995
16 42 - 15 c.3577 C>T 1193 >1000 NO CHRPE + classical Olshwang 1993
- - - 15 3577_3578delCA 1206 100-1000 N/A  CHRPE + classical Scarano 1997
30 II/2 38 - 15 3594-5delAA 1206 >100 NO Changes in bones; CHRPE + classical Kohoutova 2002
YSU-F6 36 - 15 c.3631_3632delAT 1211 500 No classical Won 1999
17 36 - 15 c.3716dupG 1239 >1000 YES Thyroid cancer classical De Rosa 2004
SNU-F62 34 - 15 c.3739_3769del31 1247 3300 No CHRPE, UGI polyp classical Kim 2005
T674-2 16 M 15 AA del 1250 >5000 NO Gastric polyp, osteoma, CHRPE - aggressive Enomoto 2000
T674-1 39 F 15 AA del 1250 >5000 YES None aggressive Enomoto 2000
T674-3 39 M 15 AA del 1250 >5000 YES CHRPE - aggressive Enomoto 2000
18 47 - 15 c.3749_3750delAA 1250 >1000 YES Small bowell classical Miyoshi 1992a
22 55 - 15 3751-2insT 1255 >100 NO Vater's P adenoma classical Kohoutova 2002
SNU-F25 27 - 15 c.3766C>T 1256 1400 YES UGI polyp classical Won 1999
19 19 - 15 c.3768dupA 1257 >1000 NO Sebaceous cysts ,CHRPE + classical Friedl 201
20 23 - 15 c.3783_3784delTT 1262 >1000 NO CHRPE + classical Tamura 1993
V 45 M 15 Frameshift, codon 1251 1264 >1000 N/A classical Matsumoto 2002
21 25 - 15 c.3790dupG 1264 >1000 NO classical De Rosa 2004
22 14 - 15 c.3815 C>G 1272 >1000 NO Sebaceous cysts aggressive De Rosa 2004
24 I/1 52 - 15 3818-22delGATGT 1282 >100 NO Changes in bones, CHRPE + classical Kohoutova 2002
24 II/1 23 - 15 3818-22delGATGT 1282 >100 NO CHRPE + classical Kohoutova 2002
YSU-F5 52 - 15 c.3867T>A 1289 150 YES classical Won 1999
SNU-F50 38 - 15 c.3871C>T 1291 1000 YES classical Kim 2005
19 29 - 15 3872-3insA 1300 >100 NO Duod. adenomas classical Kohoutova 2002
W20.2 15 - 15 GGA->TGA 1309 >1000 N/A CHRPE + aggressive Bunyan 1995
W20.3 15 - 15 GGA->TGA 1309 >100 N/A classical Bunyan 1995
1 - - 15 del 5bp 1309 4000-5000 N/A classical Albuquerque 2002
GD-5 11 - 15 del 1309 1410 NO classical Ficari 2000
GD-5 10 - 15 del 1309 1780 NO classical Ficari 2000
GD-3 11 - 15 del 1309 1300 NO classical Ficari 2000
GD-3 11 - 15 del 1309 450 NO classical Ficari 2000
GD-11 13 - 15 del 1309 7460 NO aggressive Ficari 2000
GD-11 11 - 15 del 1309 4000 NO aggressive Ficari 2000
GD-6 23 - 15 del 1309 1280 NO classical Ficari 2000
T33-1 14 F 15 AAAGA del 1309 >5000 NO Gastric polyp, desmoid, lipma, CHRPE + aggressive Enomoto 2000
T78-4 20 F 15 AAAGA del 1309 >5000 NO Gastric polyp aggressive Enomoto 2000
T74-4 24 M 15 AAAGA del 1309 >5000 NO None aggressive Enomoto 2000
T577-1 16 M 15 AAAGA del 1309 >5000 NO Gastric polyp, CHRPE + aggressive Enomoto 2000
T281-1 28 M 15 AAAGA del 1309 >5000 NO Osteoma aggressive Enomoto 2000
T958-1 21 M 15 AAAGA del 1309 >5000 NO aggressive Enomoto 2000
23 13 - 15 c.3927_3931delAAAGA 1309 >1000 NO aggressive Miyoshi 1992a
24 13 - 15 c.3927_3931delAAAGA 1309 >1000 NO desmoid + aggressive Miyoshi 1992a
25 21 - 15 c.3927_3931delAAAGA 1309 >1000 NO CHRPE + classical Miyoshi 1992a
26 26 - 15 c.3927_3931delAAAGA 1309 >1000 NO CHRPE + classical Miyoshi 1992a
27 28 - 15 c.3927_3931delAAAGA 1309 >1000 NO duodenal polyps, CHRPE + classical Miyoshi 1992a
28 28 - 15 c.3927_3931delAAAGA 1309 >1000 NO Gastric polyps classical Miyoshi 1992a
30 31 - 15 c.3927_3931delAAAGA 1309 >1000 NO Osteoma+lipoma, classical Miyoshi 1992a
31 34 - 15 c.3927_3931delAAAGA 1309 >1000 NO classical Miyoshi 1992a
32 31 - 15 c.3927_3931delAAAGA 1309 >1000 NO CHRPE + classical Miyoshi 1992a
SNU-F42 21 - 15 c.3927_3931delAAAGA 1309 1300 No classical Won 1999
GD-11 36 - 15 del 1309 5000 YES aggressive Ficari 2000
GD-10 23 - 15 del 1309 1300 YES classical Ficari 2000
T854-1 39 M 15 AAAGA del 1309 >5000 YES Gastric polyp, osteoma, CHRPE + aggressive Enomoto 2000
T891-1 25 M 15 AAAGA del 1309 >5000 YES Gastric polyp, osteoma, CHRPE + aggressive Enomoto 2000
T416-1 29 F 15 AAAGA del 1309 >5000 YES CHRPE + aggressive Enomoto 2000
T78-1 27 F 15 AAAGA del 1309 >5000 YES Gastric polyp, osteoma, CHRPE + aggressive Enomoto 2000
T78-2 41 M 15 AAAGA del 1309 >5000 YES Gastric polyp aggressive Enomoto 2000
T78-3 53 M 15 AAAGA del 1309 >5000 YES Gastric polyp, osteoma aggressive Enomoto 2000
T74-1 47 F 15 AAAGA del 1309 >5000 YES Gastric polyp, CHRPE + aggressive Enomoto 2000
T74-2 32 M 15 AAAGA del 1309 >5000 YES None aggressive Enomoto 2000
T74-3 50 M 15 AAAGA del 1309 >5000 YES None aggressive Enomoto 2000
T561-1 34 M 15 AAAGA del 1309 >5000 YES Gastric polyp aggressive Enomoto 2000
T281-2 26 M 15 AAAGA del 1309 >5000 YES Gastric polyp, osteoma aggressive Enomoto 2000
29 28 - 15 c.3927_3931delAAAGA 1309 >1000 YES classical Miyoshi 1992a
MJH-F1 18 - 15 c.3927_3931delAAAGA 1309 1000 YES classical Won 1999
SNU-F1 35 - 15 c.3927_3931delAAAGA 1309 8000 YES CHRPE, dental anomaly,
desmoid, osteoma		 aggressive Park 1994
SNU-F34 20 - 15 c.3927_3931delAAAGA 1309 1500 YES classical Won 1999
SNU-F43 38 - 15 c.3927_3931delAAAGA 1309 750 YES classical Won 1999
SNU-F75 19 - 15 c.3931_3935delATTGG 1311 1200 YES classical Kim 2005
18 III/6 32 - 15 3927-31delAAAGA 1312 >100 NO CHRPE + classical Kohoutova 2002
38 I/1 60 - 15 3927-31delAAAGA 1312 >1000 NO Duod. adenomas, changes
 in bones, CHRPE +		 aggressive Kohoutova 2002
23 II/1 21 - 15 3927-31delAAAGA 1312 >100 NO classical Kohoutova 2002
23 I/1 47 - 15 3927-31delAAAGA 1312 >100 YES classical Kohoutova 2002
GD-1 62 - 15 del 1324 311 DUO classical Ficari 2000
GD-1 35 - 15 del 1324 1750 NO classical Ficari 2000
- - - 15 3982C>T 1328 100-1000 N/A classical Paul 1993
33 2 - 15 c.4084_85delTC 1362 >1000 NO Hepatoblastoma, CHRPE + aggressive De Rosa 2004
CNU-F4 23 - 15 c.4108A>T 1370 2000 No classical Won 1999
- - - 15 4145delTCATGT 1382 >100 N/A CHRPE + classical Scarano 1999
VI 29 F 15 Frameshift, codon 1324 1414 >1000 N/A classical Matsumoto 2002
VI 27 F 15 Frameshift, codon 1324 1414 >1000 N/A classical Matsumoto 2002
VII 46 F 15 Frameshift, codon 1324 1414 >1000 N/A classical Matsumoto 2002
34 44 - 15 c.4280delC 1427 >1000 YES CHRPE - classical Miyoshi 1992a
6 - - 15 del 1bp 1436 800-1000 N/A classical Albuquerque 2002
SNU-F77 38 - 15 c.4332dupA 1444 150 No classical Kim 2005
35 19 - 15 c.4348 C>T 1450 <100 NO Osteoma, CHRPE - attenuated Mori 1993
152 30 M 15 c.4391-4394delAGAG 1464 0 N/A Desmoids, osteomas attenuated Bisgaard 2004
CNU-F14 31 - 15 c.4391-4394delAGAG 1464 1500 No classical Kim 2005
SNU-F76 31 - 15 c.4391-4394delAGAG 1464 250 No classical Kim 2005
T83-1 41 M 15 AG del 1465 100-5000 YES Osteoma, desmoid, epi. cyst, CHRPE + classical Enomoto 2000
T527-1 30 M 15 AG del 1465 100-5000 YES Osteoma, desmoid, lipoma, CHRPE + classical Enomoto 2000
36 35 - 15 c.4393_4394delAG 1465 100-1000 YES CHRPE - classical Miyoshi 1992a
37 19 - 15 c.4526_4533dupTGAGCCTC 1511 100-1000 NO Osteoma, CHRPE - classical De Rosa 2004
- - - 15 4526_4527insT 1512 <100 N/A  gastric polyps, desmoids, osteomas attenuated De Rosa 2003
I:1 29 F 15 GATGTGGAA->GGTGGAA 1520 33 NO CHRPE -, fibroma, sotmach tumors attenuated Leggett 1997 200 tumors over life; sulindac admin 37 yo
83 22 M 15 4588G>T 1530 >1000 N/A ileal adenomas classical Bisgaard 2004
- - - 15 4621C>T 1541 100-1000 N/A  gastric polyps, desmoids, osteomas classical Scarano 1997
86 37 M 15 4638_4642delTGAAA 1546 >1000 N/A Epidermoid cysts, osteomas classical Bisgaard 2004
86 17 M 15 4638_4642delTGAAA 1546 100-1000 N/A Epidermoid cysts, osteomas classical Bisgaard 2004
GD-27 18 - 15 ins 1556 675 NO classical Ficari 2000
W41 16 - 15 T->TT 1557 >100 N/A classical Bunyan 1995
38 16 - 15 c.4669_4670delAT 1557 5 NO Osteoma, CHRPE - attenuated De Rosa 2004
VIII 21 M 15 Frameshift, codon 1556 1558 <100 N/A attenuated Matsumoto 2002
VIII 16 F 15 Frameshift, codon 1556 1558 >100 N/A classical Matsumoto 2002
7 II/3 51 - 15 4665-6insA 1558 >100 NO Changes in bones; CHRPE - classical Kohoutova 2002
7 II/2 53 - 15 4665-6insA 1558 >100 NO Duod. adenomas, changes
in bones; CHRPE -		 classical Kohoutova 2002
SNU-F81 35 - 15 c.4722_4725delACTA 1574 3082 YES classical Kim 2005
39 46 - 15 c.4888_4891delGTTA 1630 >1000 YES Osteoma, CHRPE + classical De Rosa 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A Epidermoid cysts, osteomas,  classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A duodenal adenomas, desmoids classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A shared by a few classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A members of this family classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 100-1000 N/A classical Bisgaard 2004
77 - - 15 5826_5829delCAGA 1942 >1000 N/A classical Bisgaard 2004
1599AM ? 15 5770insA 1947 ‘Multiple’ No attenuated Lamlum 2000
755HW 59 15 5824delGACA 1969 5 YES attenuated Lamlum 2000
I:2 74 F 15 delACAA 1979 >100 NO classical Brensinger 1998
II:5 46 F 15 delACAA 1979 6 NO lipomis, gastric polyps attenuated Brensinger 1998
II:6 44 F 15 delACAA 1979 4 NO gastric polyps attenuated Brensinger 1998
III:2 22 F 15 delACAA 1979 0 NO None attenuated Brensinger 1998
III:3 29 M 15 delACAA 1979 1 NO lipomas attenuated Brensinger 1998
III:4 27 M 15 delACAA 1979 0 NO lipomas attenuated Brensinger 1998
II:1 51 M 15 delACAA 1979 >100 NO osteoma, adrenal tumor,
gastric and duodenal polyps		 classical Brensinger 1998
III:1 33 M 15 delACAA 1979 0 NO sebaceous cysts attenuated Brensinger 1998
III:2 28 F 15 delACAA 1979 >100 NO gastric polyps, desmoids, osteomas classical Brensinger 1998
III:3 25 F 15 delACAA 1979 >100 NO desmoids, sebaceous cysts classical Brensinger 1998
III:4 18 M 15 delACAA 1979 0 NO None attenuated Brensinger 1998
II:1 50 M 15 delACAA 1979 >100 NO None classical Brensinger 1998
II:2 51 F 15 delACAA 1979 >100 NO steomas, fibrosarcoma, lipoma,
desmoids, duodenal polyps		 classical Brensinger 1998
II:2 48 M 15 delACAA 1979 >100 YES None classical Brensinger 1998
- 57 M 15 5960delA 1981 >300 N/A Gastric polyps, CHRPE -,
adrenal masses		 classical Kartheuser 1999
III-7 65 F 15 delC 2072 36 NO UGI adenomas attenuated Soravia 1998
IV-12 43 F 15 delC 2072 2 NO UGI adenomas attenuated Soravia 1998
IV-13 41 M 15 delC 2072 20 NO attenuated Soravia 1998
IV-9 47 M 15 delC 2072 1 NO attenuated Soravia 1998
- 29 F 15 7511 G->A 2504 0 NO desmoids attenuated Eccles 2001
II:5 59 M 15 del -> no stop, inferred 2644 >100 NO None classical Brensinger 1998
III:2 36 F 15 del -> no stop, inferred 2644 >100 NO desmoid classical Brensinger 1998
III:5 40 F 15 del -> no stop, inferred 2644 0 NO jaw lesion, hepatoma, desmoid attenuated Brensinger 1998 gene status unknown
III:6 33 F 15 del -> no stop, inferred 2644 0 NO jaw lesion attenuated Brensinger 1998 gene status unknown
II:4 60 M 15 del -> no stop, inferred 2644 >100 YES osteoma, bladder cancer classical Brensinger 1998
II-1 40 F 15 del TCTA, 7929-7933 2660 30 N/A Severe desmoplasia attenuated Couture 2000
II-3 56 F 15 del TCTA, 7929-7933 2660 >100 N/A classical Couture 2000
III-2 33 F 15 del TCTA, 7929-7933 2660 0 N/A Cutaneous cysts, multiple desmoids attenuated Couture 2000
III-6 28 F 15 del TCTA, 7929-7933 2660 1 N/A Cutaneous cysts, multiple desmoids attenuated Couture 2000
III-9 25 F 15 del TCTA, 7929-7933 2660 0 on SX N/A Thoracic desmoids attenuated Couture 2000
III-10 35 F 15 del TCTA, 7929-7933 2660 >100 N/A Abdominal desmoids classical Couture 2000
T387-1 27 F 15 G del 1105–1106 100-5000 NO Gastric polyp, desmoid, lipoma, CHRPE + classical Enomoto 2000
T387-2 39 F 15 G del 1105–1106 100-5000 NO None classical Enomoto 2000
T387-3 15 F 15 G del 1105–1106 100-5000 NO Gastric polyp classical Enomoto 2000
T387-4 31 M 15 G del 1105–1106 100-5000 NO None classical Enomoto 2000
T679-1 52 F 4 ATAG del 169–171 <100 YES attenuated Enomoto 2000
T526-1 25 F 4 AAAC del 181–182 100-5000 NO Gastric polyp classical Enomoto 2000
T366-1 35 M 9 11-bp del 413–416 100-5000 NO classical Enomoto 2000
11 III/9 57 - 11 IVS11+1G->A 516? >100 NO Changes in bones; CHRPE + classical Kohoutova 2002 DExon12?
11 III/5 57 - 11 IVS11+1G->A 516? >100 NO Changes in bones; CHRPE + classical Kohoutova 2002 DExon12?
11 III/6 53 - 11 IVS11+1G->A 516? >100 NO Duod. adenomas, desmoid, osteoma classical Kohoutova 2002 DExon12?
11 IV/2 44 - 11 IVS11+1G->A 516? >100 NO Osteoma, CHRPE + classical Kohoutova 2002 DExon12?
11 IV/7 40 - 11 IVS11+1G->A 516? <100 NO CHRPE + attenuated Kohoutova 2002 DExon12?
11 IV/12 32 - 11 IVS11+1G->A 516? >100 NO Osteoma, CHRPE + classical Kohoutova 2002 DExon12?
11 IV/14 26 - 11 IVS11+1G->A 516? >100 NO CHRPE - classical Kohoutova 2002 DExon12?
11 IV/16 38 - 11 IVS11+1G->A 516? >100 NO Desmoid, osteoma, CHRPE + classical Kohoutova 2002 DExon12?
11 V/1 23 - 11 IVS11+1G->A 516? >100 NO CHRPE + classical Kohoutova 2002 DExon12?
11 V/8 20 - 11 IVS11+1G->A 516? <100 NO CHRPE + attenuated Kohoutova 2002 DExon12?
11 V/9 19 - 11 IVS11+1G->A 516? <100 NO attenuated Kohoutova 2002 DExon12?
T752-1 46 F 15 TT ins 778–779 100-5000 YES CHRPE + classical Enomoto 2000
T916-1 34 M 15 10-bp del 978–981 100-5000 NO None classical Enomoto 2000