Table 1

 Extent of the identified 29 large deletions (26 submicroscopic, 3 cytogenic) and the corresponding clinical phenotypes in the FAP index patients (shown in bold) and their relatives

FAP no.Deleted exonsDeleted promoterRelationshipColorectal phenotypeMode of diagnosis¶Age at diagnosis (years)Colorectal polypsColorectal polyp distributionColectomy (age in years)CRC (age in years)
Words in brackets indicate cases with uncertain phenotype. †Three patients with cytogenetically detectable deletions; patient 630 published in Raedle et al; patients 671 and 974 were too young to have developed polyposis; four patients with large submicroscopic deletions previously detected by polymorphic markers; §patient published in Mandl et al. ¶Symptoms: patients diagnosed because of bowel symptoms of FAP; call ups: FAP patients diagnosed in an asymptomatic state by prophylactic endoscopic bowel screening (family screening of subjects at risk).
3‡ §1–15-3XIndexTypicalBy chance34ProfuseMainly distal3434
Brother(Typical)Symptoms36MultipleMainly distal3636
Brother(Attenuated)Call up43Some hundredWhole colonYesNo
NephewTypicalCall up1620Throughout the colon
MotherAttenuatedSymptoms5959
151–5XIndexTypicalSymptoms31MultipleMainly distal3136
FatherAttenuatedSymptoms64NumerousWhole colon, not specifiedNoNo
DaughterTypicalCall up11>100Mainly distalNoNo
CousinTypicalSymptoms33Yes
40‡1–15-3XIndex(Typical)28MultipleWhole colon, not specified2838
11311–12IndexTypicalSymptoms17MultipleLess in rectosigmoid20No
340‡8–15-3IndexTypicalSymptoms29>100Whole colon, not specified29
Mother(Typical)Symptoms4142
SonTypical19ProfuseMainly distal
367‡14–15-3IndexTypical1516
MotherTypicalSymptoms28Multiple29
UncleTypicalSymptoms3131
38014IndexTypical2626
Brother(Typical)Symptoms40Profuse
BrotherTypical3030
Brother(Typical)2424
Cousin(Attenuated)Call up3350–10035No
630†1–15-3XIndexTypicalSymptoms18>100Mainly distal18No
65714–15-2IndexTypicalSymptoms28>100Mainly distalNoNo
6631XIndexTypicalSymptoms25Several25No
Mother(Typical)2526No
Grandfather(Typical)<35<35
671†1–15-3XIndex
6951–15-3XIndexTypical19NumerousWhole colon, not specified3636
Mother(Typical)Symptoms3536
7501–15-3XIndexTypicalBy chance32>100Whole colon, not specified32No
Mother(Typical)Symptoms44Not knownNot known4444
76615-2–15-3IndexSymptoms40Numerous41No
Brother(Typical)3333
Son(Typical)2626
8011–15-3IndexTypicalSymptoms31MultipleWhole colon, not specified3131
Father(Typical)Symptoms44MultipleWhole colon, not specified4444
8381–15-3XIndexSymptoms43NumerousWhole colon, not specifiedNo
8701–15-3XIndex(Typical)28No
9039–15-3IndexTypicalSymptoms29>100Whole colon, not specified2929
94311–15-3IndexTypicalSymptoms25Profuse
Mother(Typical)Symptoms40
Grandmother(Typical)Symptoms38
9491–15-3XIndexSymptoms42Multiple4342
974†1–15-3XIndex
10671–15-3XIndexTypicalSymptoms24
Mother(Typical)42
10841–15-3XIndexTypicalSymptoms291500Whole colon, not specified29
10961–15-3XIndexTypicalCall up14Multiple
Mother(Typical)Symptoms2929
Grandfather(Typical)Symptoms39
10981–7XIndexTypicalSymptoms27>100Mainly distal
Father(Typical)Call up30Multiple3149
11211–15-3IndexSymptoms46MultipleMainly distal
11321–10XIndexTypicalSymptoms2626
DaughterTypicalCall up16Few
Mother(Typical)41
11641–15-3XIndex(Typical)Symptoms24>30Mainly distalNo
12031–15-3XIndexTypicalSymptoms<33Numerous<33