Analysis | Result | Date | Origin | PMID/dbSNP | Co-occurrence | MSH6:c.3940C>G, p.Gln1314Glu (45948-100471, 45948-100470, 45948-85914) | 25/09/15 | 8 (Nancy) | --- |
MMR function in tumor cells | Index case (45948-85914) : endometrium cancer at the age of 43. Paternal aunt : endometrium cancer at the age of 69. Paternal aunt : bladder + intestine cancers at the age of 60. Paternal grandmother : kidney cancer. Paternal great-aunt : uterine cancer | 25/09/15 | 8 (Nancy) | --- |
Clinical phenotype | MSI-H / MSH6- (45948-85914) | 25/09/15 | 8 (Nancy) | --- |