HRPT2 predicted polymorphisms found in this study
| Polymorphism | Heterozygote frequency in tumour DNA* (allele frequency) | Classification of tumours harbouring a polymorphism | Heterozygote frequency in germline DNA from a normal panel (allele frequency) |
|---|---|---|---|
| *Only 1 sample from each family was included in the heterozygote frequency estimation. | |||
| [G]Present also in germline. | |||
| [?]Germline status not ascertained. | |||
| †The variant IVS7+33(GA)8 was found in tumour and in germline in two affected members of the same family. Both tumours demonstrated LOH at 1q24-32 and the polymorphism was found on the mutated allele in tumour DNA. | |||
| Y11Y (c.33C→T) | 1 in 56 (0.01) | 1 sporadic adenoma [G] | 0 in 65 |
| IVS2+28delCCTA | 2 in 56 (0.02) | 1 secondary hyperplasia [G] | 5 in 65 (0.04) |
| 1 tertiary hyperplasia [?] | |||
| IVS2+28C→T | 26 in 56 (Heterozygous) (0.30) | all tumour types [G] | 33 in 65 (Heterozygous) (0.32) |
| 4 in 56 (Homozygous for T) | 4 in 65 (Homozygous for T) | ||
| IVS7+33(GA)8 | 4 in 56 (0.04) | 1 lithium [G] | 1 in 65 (0.01) |
| 1 secondary hyperplasia [G] | |||
| 1 MEN 1 [?] | |||
| 1 FIHP† (2 affected family members [G]) | |||
| IVS12-86C→T | 3 in 56 (0.03) | 1 sporadic adenoma [?] | 3 in 65 (0.02) |
| 2 secondary hyperplasia [?] | |||
| IVS12-109T→G | 5 in 56 (0.05) | 1 secondary hyperplasia [G] | 6 in 65 (0.05) |
| 1 tertiary hyperplasia [?] | |||
| 3 sporadic adenomas [?] | |||
| IVS13+20A→C | 0 in 56 | 1 in 65 (0.01) | |