| Analysis | Result | Date | Origin | PMID/dbSNP | | MMR function in tumor cells | MSS / MSH6- (98100-19524) | 27/03/09 | 4 (Lyon) | |
| Clinical phenotype | Amsterdam II + (98100) | 27/03/09 | 4 (Lyon) | --- |
| In vitro analysis | RT-PCR (PAXgene / lymphocytes; +/- puromycine) : both alleles expressed (L14.126-26170) | 15/05/15 | 37 (Lille) | --- |
| Co-occurrence | MSH6:c.457+13A>G, p.? (L14.126-26170) | 31/03/15 | 37 (Lille) | --- |
| Clinical phenotype | Index case : rectum cancer at the age of 42. Brother 1 : rectum cancer at the age of 53. Brother 2 : polyps at the age of 44. Mother : endometrium cancer at the age of 54 and colon cancer at the age of 78. Father : rectum cancer at the age of 59 (family nç59) | 29/06/15 | "Roncari et al. Clin Genet. 2007 Sep;72(3):230-7" | 17718861 |
| MMR function in tumor cells | MSS / MLH1+MSH2+MSH6- | 29/06/15 | "Roncari et al. Clin Genet. 2007 Sep;72(3):230-7" | 17718861 |
| Segregation analysis | Family 59 : the three brothers and their mother carry the variant | 29/06/15 | "Roncari et al. Clin Genet. 2007 Sep;72(3):230-7" | 17718861 |
| In vitro analysis | RT-PCR : normal splicing | 25/09/15 | 4 (Lyon) | --- |
| Clinical phenotype | Index case : right colon cancer at the age of 50. Sister : endometrium cancer at the age of 54. Mother : colon cancer at the age of 78. Maternal aunt : uterine cancer at the age of 42 (cervix ? Endometrium ?) | 22/10/15 | 17 (Curie) | --- |
| MMR function in tumor cells | MSI-H / MLH1+MSH2+MSH6- (index case) | 22/10/15 | 17 (Curie) | --- |
| Clinical phenotype | Index case : colorectal cancer at the age of 54 (L14.126-26170). Brother : colorectal cancer at the age of 48 | 23/10/15 | 37 (Lille) | --- |
| MMR function in tumor cells | MSI / MLH1+MSH2+MSH6-PMS2+ (2 tumors : L14.126-26170 and brother) | 23/10/15 | 37 (Lille) | --- |
| Segregation analysis | Both brothers carry the variant (L14.126) | 23/10/15 | 37 (Lille) | --- |
| Clinical phenotype | Amsterdam I+. Index case (25-3952-26608-1) : flat adenomas (one tubulovillous with high grade dysplasia). Father : colon cancer at the age of 46. Paternal grandmother : colon cancer at the age of 50. Paternal great-uncle : colon cancer <60 years old. Paternal cousin (25-3952-26608-2) : rectal cancer at the age of 45. | 23/10/15 | 25 (Strasbourg) | --- |
| MMR function in tumor cells | MSI-H (7/12) / MLH1+MSH2+MSH6-PMS2+ (25-3952-26608-1) | 23/10/15 | 25 (Strasbourg) | --- |
| Co-occurrence | "MSH6:c.116G>A, p.Gly39Glu ; c. 3802-40C>G, p. ? ; c.3646+35_3646+38del, p. ?. Absence de mutation sur MSH2 (25-3952-26608-1)" | 23/10/15 | 25 (Strasbourg) | --- |
| Other genes tested | MSH2 wild type (25-3952-26608-1) | 23/10/15 | 25 (Strasbourg) | --- |