Table 7. Clinical characteristics, molecular screening test results and family history of patients fulfilling the Amsterdam II criteria.
ID | Age at CRC (years) | Gender | Tumour localisation | MSI status | BRAF | Methylation status | Molecular analyses conclusion | Tumour in relative (age at diagnosis in years) | Germline test result |
---|---|---|---|---|---|---|---|---|---|
1 | 48 | M | Right colon | MSI-H | Wt | Neg | LS likely | Mo:CR(54); Si:EN(55) | PMS2 |
2 | 46 | F | Right colon | MSI-H | Wt | Neg | LS likely | Mo:EN(48); MatGrandMo:Ur(56); Fa:Pro(70) Si:CER(51); | MSH2 |
3 | 74 | F | Rectum | MSS | Wt | Neg | Likely non-LS | Da:EN(48);Si:EN(49); MatGrandFa:Abd(70) | |
4 | 75 | F | Right colon | MSS | Wt | Neg | Likely non-LS | Mo:CR(46); Bro:CR(78);Si:Cr(79) | |
5 | 67 | M | Right colon | MSS | Wt | Neg | Likely non-LS | Bro:CR(35);Fa:Cr(85); PatGrandPa:Cr(60); PatUn:Abd(∼70); PatUn:Abd (∼70); PatAu:Abd(∼70); PatAu:Abd(∼70) | |
6 | 59 | M | Rectum | MSS | Wt | Neg | Likely non-LS | Bro:CR(29); Mo:EN(40); MatAu:CR(58);MatAu:CR(63) Fa:Pro(65); 11 MatAu/MatUn:Unkn | |
7 | 81 | M | Right colon | MSS | Wt | Neg | Likely non-LS | Bro:CR(70); Pat Un:CR(53); Pat Un CR(27); Pat Un:CR(50); Fa: ‘Bile/gall bladder’ Mat Un;Lung(smoker) | — |
8 | 72 | M | Right and left colon (synch) | MSI-H | Wt | Neg | LS likely | Si: CR(58). Da: CR(38); Pat.Un CR(53); Pat.Un Abd(50) | Germline test MLH1, MSH2, MSH6, PMS2, negative |
Abbreviations: Abd=abdomen; Au=aunt; Bro=brother; CR=colorectal; CRC=colorectal cancer; Da=daughter; EN=endometrium; Fa=father; GrandFa=grandfather; GrandMo=grandmother; Mat=maternal; methylation status=promotor methylation of MLH1; Mo=mother; MSI=microsatellite status; MSI-H=microsatellite high; MSS=microsatellite stable; neg=no methylation; Pat=paternal; pos=methylation found; Pro=prostate; Si=sister; So=son; Un=uncle; Unkn=unknown; Ur=ureter or cancer of the ureter/renal pelvis; UT CER=uterine cervix; wt=no BRAF mutation.
Molecular screening analyses conclusion: LS=if possible LS; non-LS=if likely sporadic CRC.
Lynch syndrome-associated tumours=colorectal, endometrium, cancer of the small bowel and ureter or renal pelvic cancer.