Table 3.
Details about the extra colonic cancers observed in the MSH6 patient cohort (n = 78).
| Family ID | Cancer (Age of diagnosis) | Family relationship | Mutation in family- Nucleotide Change | Family fulfilled Am II criteria |
|---|---|---|---|---|
| MSH6_4 | CRC (72) Endometrial (74) |
Proband | c.2150_ 2153delTCAG | Yes |
| MSH6_8.1 | Ovarian (49) | No pedigree available | c.458_627del | Yes |
| MSH6_8.4 | Appendix cancer (14) | No pedigree available | c.458_627del | Yes |
| MSH6_9 | Bladder (69) Endometrial (71) Thyroid (72) |
Proband | c.3261delC | Yes |
| MSH6_10 | CRC (21) Non-Hodgkin Lymphoma (6) |
Proband | c.1_457del | Yes |
| MSH6_10.1 | Endometrial (68) | Probands paternal grandmother | c.1_457del | Yes |
| MSH6_10.2 | Non-Hodgkin Lymphoma (28) | Probands paternal aunty | c.1_457del | Yes |
| MSH6_13 | Endometrial (54) | Proband | c.3202C>T | Yes |
| MSH6_13.7 | Endometrial (56) | Probands sister | c.3202C>T | Yes |
| MSH6_16 | Endometrial (50) Breast (63) |
Proband | c.2976delA | No |
| MSH6_16.1 | Endometrial (57) Breast (61) |
Probands sister | c.2976delA | No |
| MSH6_18.4 | Endometrial (44) | Probands sister | c.3261dupC | No/Bethesda |
| MSH6_23 | Endometrial (64) Breast (70) |
Proband | c.1404_1405delTC | Unknown (no pedigree) |
| MSH6_26.1 | Bladder (52) | Probands brother | c.3312delT | No |
| MSH6_28 | Endometrial (50) | Proband | c.3556+3_3556+13delGAGTTTTTTGT | Unknown |
| MSH6_29 | Ovarian (38) | Proband | c.620del | Unknown (no pedigree) |