Table 1.
Clinico‐pathological characteristics of the six study participants
| ID | Gender |
Age at Diagnosis (years) † |
MMR germline | Sebaceous Lesion | Site | MMR IHC status | Cancer history | Smoking history |
|---|---|---|---|---|---|---|---|---|
| Individuals without Lynch syndrome | ||||||||
| 31001 | M | 64 | None | Adenoma | R cheek | Normal expression | None |
Former 20−38 years (infrequently) |
| 44001 | M | 55 | None | Adenoma | L temple | Normal expression | Skin cancer |
Former 17−25 years |
| 67001 | M | 70 | None | Adenoma | L neck | Normal expression | Prostate (60 years); Melanoma (65 years) | Former (infrequently at school) |
| Individuals with Lynch syndrome | ||||||||
| 10101 | M | 50 |
MSH2
c.892C > T p.Gln298Ter |
Adenoma | R nasal tip | MSH2/MSH6 loss | Colon (44 years); Ileocolon (54 years) |
Former 10−48 years (Heavy) |
| 00011 | M | 50 |
MSH2
c.2131C > T p.Arg711Ter |
Carcinoma | thigh | MSH2/MSH6 loss | Melanomas (50, 53, 60 years) | No |
| 04001 | F | 64 |
MSH2
c.2131C > T p.Arg711Ter |
Carcinoma | back | MSH2/MSH6 loss | Renal pelvis (60 years); Colon (62 years); breast (70 years) |
Current 30−64 years (moderate) |
†
Age at diagnosis of lesion tested by whole exome sequencing; Gender: M = Male, F = Female; Site: L = left, R = Right side of body; MMR = mismatch repair; normal expression = normal and retained expression of all four MMR proteins tested (MMR‐proficiency), MSH2/MSH6 loss = loss of expression of MSH2 and MSH6 proteins with retained/normal expression of MLH1 and PMS2 proteins (MMR‐deficiency).