Table 1 Family characteristics
From: A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
| Individual ID | Gender | Age: Cancer localization (pathology) | Colonic adenomas | Mutation status (APC) | Comments |
|---|---|---|---|---|---|
| Family 1 | |||||
| I-I | Female | 66: Colon, hepatic flexure (AC) | n/a | n/a | Cholecystitis chronica without specification. |
| II-I | Female | 46: Transverse colon (AC) | > 25 | c.289G>A | 46: Colectomy |
| II-II | Male | 78: Duodenum (AC) | > 100 | c.289G>A | 64: Prophylactic subtotal colectomy |
| II-III | Female | 57: Descending colon (AC) | < 10 | c.289G>A | 57: Subtotal colectomy. |
| 57: Rectum (AC) | |||||
| 57: Transverse colon (AC) | |||||
| 69: Intrahepatic tumor (MCAC) | Caroli disease. | ||||
| II-VI | Female | 55: Breast (IDC) | n/a | n/a | 21: Cholecystectomy. |
| Family 2 | |||||
| I-I | Male | 64: Caecum (AC) | n/a | n/a | |
| II-I | Female | 88: Uterus (EA) | > 30 | c.289G>A | *) Suspected based on a CT-scan. |
| 90: Likely pancreatic cancer* | |||||
| II-II | Male | 65: Liver metastases with primary tumor in the gastrointestinal tract, most likely pancreatic or gastric cancer (pathology n/a) | n/a | n/a | |
| III-I | Female | 62: Sigmoid colon (AC) | Multiple, likely > 100 | c.289G>A | 62: Total colectomy. |
| 62: Sigmoid colon (AC) | |||||
| III-II | Male | – | < 20 | c.289G>A | 64: No cancer diagnosis. |