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Table 1 Phenotypic features and germline mutations identified in APC-positive patients.

From: Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Patient ID Onset age Number of Adenomas CRC ED Family history (age at diagnosis) Mutation Exon Ref
GAL-27 42 >100 No No Father: CRC(36) Grandmother: CRC(60) c.(?_30)_(*220_?)del Whole allele [11]
GAL-16 23 100 No DT OST NA c.(?_30)_(*220_?)del Whole allele [11]
GAL-14 20 >100 No ? No c. 1-?_8532+?del 1 to 15 [12]
GAL-07 50 15 No No Affected mother (?) c.147-150 del ACAA (p.Lys49Asn fs X20) 2 This study
GAL-15 33 >100 No ? No c.423-?_531+?del 4 [5]
GAL-11 41 >100 Yes No Father: CRC (?) c.646C>T (p.Arg216X) 6 [13]
GAL-26 15 >100 No No Father: FAP+CRC (47) c.646 C>T (p.Arg216X) 6 [13]
GAL-09 33 12 No No No c.994C>T (p.Arg332X) 9 [5]
GAL-10 64 50 Yes No Mother: CRC (68) Aunt: CRC (60) c.1072C>T (p.Gln358X) 9 [14]
GAL-19 NA 20–50 No No Mother: CRC (46) c.1402 G>T (p.Glu468X) 10 This study
GAL-13 20 >100 Yes No No c.1620_1621dupA (p.Gln541ThrfsX19) 12 [15]
GAL-18 33 >50 No No Father: CRC (42) c.1682dupA (p.Thr562AsnfsX19) 13 [10]
GAL-02 30 0 No PC No c.1756 A>T (p.Lys586X) 14 [16]
GAL-01 23 <100 No No Brother: FAP (20s) c.2413C>T (p.Arg805X) 15 [17]
GAL-17 41 100 Yes OST Father CRC (45), Sister CRC (34) c.2900 del T (p.Val967Ala fs X13) 15 This study
GAL-12 34 <100 No No Father: CRC (40s) Uncle: CRC (40s) Grandfather: CRC(40s) c.3467_3470delAAGA (p.Glu1156GlyfsX8) 15 [18]
GAL-24 52 >100 No CHRPE No c.3927_3931delAAAGA (p.Glu1309AspfsX4) 15 [18]
GAL-04 60 >100 Yes Others No c.4033G>T (p.Glu1345X) 15 [19]
GAL-25 43 >100 Yes No NA c.4219-4220 del AG p.Ser1407X fs X1 15 This study
CAT-12 21 >100 No No Mother: FAP+ CRC (49) Sister: FAP (31) c.(?_30)_(*220_?)del Whole allele [11]
CAT-13 20 20–50 No No Father: FAP (?) Brother: FAP (?) c.423-?_531+?del 4 [5]
CAT-01 46 100 Yes No Brother: CRC+FAP(53) Brother: CRC+FAP(59) c.994C>T (p.Arg332X) 9 [5]
CAT-02 32 >100 No DP No c.2934_2935 del AA (p.Gln978His fs X6) 15 This study
CAT-03 38 40–60 No DT Father: CRC (46) Brother: FAP c.3183_3187delACAAA (p.Lys1061LysfsX2) 15 [18]
CAT-04 20 >100 No No Mother: FAP + CRC (?) Cousin: CRC (52) c.3183_3187delACAAA (p.Lys1061LysfsX2) 15 [18]
CAT-05 39 >100 No DT Sister: FAP (41) c.3183_3187delACAAA (p.Lys1061LysfsX2) 15 [18]
CAT-06 38 >100 Yes No Brother: FAP Father: FAP + CRC (?) c.3329C>A (p.Ser1110X) 15 This study
CAT-07 NA NA NA NA NA c.3329C>A (p.Ser1110X) 15 This study
CAT-08 27 >100 No No Brother: FAP (29) Father: FAP (41) Grandmother: FAP(30) c.3531 del T (p.Ile1177Met fs X5) 15 This study
CAT-09 NA NA NA DP NA c.3631_3632delAT (p.Met1211ValfsX5) 15 [20]
CAT-10 17 >100 No FGP Father: FAP (39) Uncle: FAP + CRC (?) c.3927_3931delAAAGA (p.Glu1309AspfsX4) 15 [18]
CAT-11 32 >100 No FGP Father: FAP (39)
Uncle FAP + CRC(63).
Aunt: FAP+ CRC(55)
Grandmother: FAP+CRC(39)
c.3927_3931delAAAGA (p.Glu1309AspfsX4) 15 [18]
  1. ED: extracolonic disease; DT: desmoid tumor; OST: osteomas; NA: not available; PC: papillary carcinoma; CHRPE: congenital hypertrophy of the retinal pigmented epitelium; Others: Ovarian tumor and suprarenal adenoma; DP: duodenal polyps; FGP: fundic gland polyps.