Patient characteristics and mutations in 32 families with Peutz-Jeghers syndrome by direct sequence analysis of STK11
| Case ID | Family history | Number confirmed with PJS polyps* | Number of polypectomies | Pigmentation | Cancer† | PJS status‡ | Referral§ | Sex | Age at first polypectomy | Mutation type | Exon | DNA change | Protein effect |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Polyps with hamartomatous or Peutz-Jeghers morphologies, all cases with 0 confirmed polyps had no documentation; †cancer in the proband case (C) or family member (F); ‡Peutz-Jeghers status: C, confirmed based upon two or more confirmed hamartomatous or Peutz-Jeghers polyps; L, likely based upon history of polypectomies, family history of reported Peutz-Jeghers syndrome, and/or hyperpigmentation; P, possible Peutz-Jeghers syndrome based upon lack of hyperpigmentation (family 41), a single polypectomy (family 38), or a history of numerous polypectomies with a single confirmed Peutz-Jeghers polyp (family 59); §referral source: G, geneticist; GC, genetic counsellor; GI, gastroenterologist; ¶Harrisburg family, also family 2 of McGarrity et al37; **family history of early onset breast cancer in the mother without PJS symptoms; ††bilateral gynaecomastia; ‡‡family 4 of McGarrity et al37; §§pathology reports from two Peutz-Jeghers polyps were obtained from the proband’s mother; ¶¶family 1 of McGarrity et al37; ***family 4 of Amos et al.25 | |||||||||||||
| 01¶ | F | 2 | 2 | + | F | C | GI | M | 11 | Missense | 4 | 509 A→C | Q170P |
| 09 | F | 2+ | 2 | + | F | C | GI | M | 18 | Missense | 8 | 1061 C→G | F354L |
| 32 | F | 0 | 5 | + | − | L | GC | F | 32 | Missense | 4 | 541 A→G, 543 C→A | N181E |
| 34 | S | 0 | 2 | + | − | L | GC | F | 10 | Missense | 1 | 200 T→C | L67P |
| 53 | S | 2 | 4 | + | − | C | G | M | 20 | Missense | 5 | 688 A→C | T230P |
| 61 | F | 0 | 0 | + | F | L | G | F | None | Missense | 7 | 910 C→T | R304W |
| 08 | S | 2+ | 10 | + | C | C | GI | F | 7 | Nonsense | 2 | 367 C→T | Q123X |
| 11 | F | 0 | 4 | + | F** | L | Self | F | 5 | Nonsense | 3 | 409 C→T | Q137X |
| 26†† | S | 0 | 2 | + | − | L | Self | M | 13 | Nonsense | 3 | 409 C→T | Q137X |
| 33 | S | 2+ | 2 | + | − | C | GI | F | 16 | Nonsense | 3 | 409 C→T | Q137X |
| 39‡‡ | S | 2+ | 5 | + | − | C | GI | M | 12 | Insertion | 3 | 429–430ins AGCGT | Premature truncation |
| 45 | F | 2+ | 7 | + | − | C | GC | M | 10 | Insertion | 8 | 959–960insT | Premature truncation |
| 47 | F | 0 | 3 | + | C | L | GI | M | 21 | Insertion | 6 | 842–843insC | Premature truncation |
| 49 | S | 2+ | 8 | + | C | C | Self | F | <1 | Insertion | 6 | 842–843insC | Premature truncation |
| 54 | S | 2+ | 2 | + | − | C | G | M | 15 | Insertion | 1 | 157–158insGG | Premature truncation |
| 56§§ | F | 2 | 1 | + | − | C | G | F | 18 | Insertion | 4 | 571–572insA | Premature truncation |
| 04¶¶ | F | 2+ | 3 | + | − | C | GI | M | 13 | Deletion | 3 | 418delC | Premature truncation |
| 13 | S | 2+ | 10 | + | − | C | Self | F | 18 | Deletion | 3 | 436–437delAA | Premature truncation |
| 21 | F | 2+ | 2+ | − | − | C | GI | M | 8 | Deletion | 1 | 218–229del | C73–V77del |
| 27 | F | 0 | 4 | + | − | L | Self | F | 17 | Deletion | 1 | 166–189del | G56–V63del |
| 12 | S | 2+ | 1 | − | C | C | GI | M | 34 | Splice? | 8 | 1040 G→A | A347A |
| 22 | S | 2+ | 3 | + | − | C | GI | F | <1 | Splice | At 8 | IVS7+978 G→C | Abnormal splicing |
| 05 | F | 0 | 2 | + | − | L | GI | F | 31 | None | |||
| 06*** | F | 2+ | 2+ | + | − | C | GI | M | 11 | None | |||
| 18 | S | 0 | 10 | + | − | L | Self | F | 3 | None | |||
| 24 | S | 2+ | 2 | + | − | C | GI | M | 10 | None | |||
| 37 | F | 2+ | 1 | + | − | C | GI | F | 30 | None | |||
| 38 | F | 0 | 1 | + | − | P | Self | F | 23 | None | |||
| 41 | S | 0 | 2 | − | − | P | GC | M | 15 | None | |||
| 43 | S | 0 | 2 | + | − | L | GC | M | 9 | None | |||
| 52 | S | 2 | 3 | + | − | C | G | F | 20 | None | |||
| 59 | S | 1 | 4 | + | − | P | GC | F | 9 | None | |||