TheUMD-MSH2 mutations database
Large rearrangement: c.1_1276del (deletion from exon 1 to 7)
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_10708_10708-001_10708- | - | - | - | - | - |
| 19_10966_10966-001_10966- | - | - | - | - | - |
| 19_10966_10966-002_10966- | - | - | - | - | - |
| 19_12804_12804-001_12804- | - | - | - | - | - |
| 19_13655_13655-001_13655- | - | - | - | - | - |
| 19_13655_13655-002_13655- | - | - | - | - | - |
| 19_13655_13655-003_13655- | - | - | - | - | - |
| 19_2465424654-00124654-001 | - | - | - | - | - |
| 19_2754127541-00127541-001 | - | - | - | - | - |
| 19_6816_6816-001_6816-001 | - | - | - | - | - |
| 19_6816_6816-003_6816-003 | - | - | - | - | - |
| 19_6816_6816-004_6816-004 | - | - | - | - | - |
| 19_7169_7169-001_7169-001 | - | - | - | - | - |
| 19_7169_7169-002_7169-002 | - | - | - | - | - |
| 19_7169_7169-003_7169-003 | - | - | - | - | - |
| 19_7965_7965-001_7965-001 | - | - | - | - | - |
| 19_7965_7965-002_7965-002 | - | - | - | - | - |
| 19_9500_9500-001_9500-001 | - | - | - | - | - |
| 19_9807_9807-001_9807-001 | - | - | - | - | - |
| 19_9807_9807-002_9807-002 | - | - | - | - | - |
| 19_L11.02213047111293 | - | - | - | - | - |
| 19_L11.02216706115847/120218 | - | - | - | - | - |
| 19_L11.10016702120920 | - | - | - | - | - |
| 20_20-56025602-01--- | - | - | - | - | - |
| 37_L03.27_1813_16993 | - | - | - | - | - |
| 4_H-H05043_19298_1462 | - | - | - | - | - |
| SO_-4100---G06037 | c.1737A>G (p.Lys579Lys) | - | - | - | - |
| SO_-4449---G06595 | - | - | - | - | - |
| SO_-5486---G08478 | - | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Clinical phenotype | Amsterdam II+. Index case (20-5602-01) : endometrium cancer at the age of 53. Daughter : colorectal cancer at the age of 49 and breast cancer at the age of 51. Sister : breast cancer at the age of 61. Cousin : ovarian cancer at the age of 61. Cousin : intestinal cancer at the age of 45. | 28/08/15 | 20 (Clermont-Ferrand) | |
| Clinical phenotype | Amsterdam I+ (24654) | 5/08/14 | 19 (Rouen) | |
| MMR function in tumor cells | MSI / MSH2-MSH6- (24654-001) | 5/08/14 | 19 (Rouen) | |
| Clinical phenotype | Amsterdam +. Index case (27541-001) : caecal cancer at the age of 35 + rectal cancer at the age of 65 | 25/09/15 | 19 (Rouen) | |
| MMR function in tumor cells | MSI (27541-001) | 25/09/15 | 19 (Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 21/02/14 | --- |
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Consequences of the mutation at the protein level No data available |