Table 2 Observed EPHB2 germline variations in colorectal cancer and hyperplastic polyposis patients.
From: EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
Patient | Exon | nt change | aa change | Index patient (diagnosis, age at diagnosis, nationality) | Family history of cancer | LOH | Frequency in | ||
|---|---|---|---|---|---|---|---|---|---|
familial PC* | familial CRC* | healthy controls | |||||||
C713 | 3 | 239G>A | R80H | CRC, 73 years, FIN | brother, PC, 60 years father, GC*, 57 years | no | - | 1/106 | 9/281 |
C112 | 5 | 1081A>G | I361V | CRC, 75 years and PC, 73 years, FIN | - | yes | 0/164 | 0/139 | 0/239 |
C809 | 9 | 1702C>T | R568W | serrated CRC, 69 years, FIN | father, PC, 82 years | no | 0/164 | 0/145 | 0/279 |
PAP211 | 14 | 2581G>A | D861N | HPP*, 58 years, UK | mother, CRC, 36 years | - | - | 0/40† | 0/200 |