Data for this mutation
Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
---|---|---|---|---|---|
2_DDM1356243058215089465 | - | c.1852_1854delAAG (p.Lys618del) | - | - | - |
Analysis | Result | Date | Origin | PMID/dbSNP |
---|---|---|---|---|
MMR function in tumor cells | MSI-H / MLH1-PMS2- (2 tumors, DDM13562-43058) | 1/09/15 | 2 (Villejuif) | |
Co-occurrence | MLH1:c.1852_1854del, p.Lys618del | 1/09/15 | 2 (Villejuif) | |
Clinical phenotype | Index case (DDM13562-43058) : colon cancers at the ages of 35 and 57. Sister : colon cancer at the age of 32. Mother : colon cancer at the age of 74. Maternal uncle : colon cancer at the age of 45. | 1/09/15 | 2 (Villejuif) |
Biological significance | Date | Comment |
---|---|---|
UV | 9/09/15 | --- |