Table A1.
Patients With Missense Mutations Not Classified as Disease Causing
| Patient | Sex | Age at Diagnosis (years) | CRC Site | MSI
|
Gene | Nucleotide | Protein | Classification | Family History* | Race | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| No. of Unstable Microsatellite Markers | Total No. of Microsatellite Markers Tested | ||||||||||
| 60235 | M | 82 | Cecum | 5 | 5 | MLH1 | c.299G > A | p.Arg100Gln | VUS | N | White |
| 64796 | M | 52 | Transverse | 5 | 5 | MLH1 | c.1852_1853delAAinsGC | p.Lys618Ala | Polymorphism | N | White |
| 67844 | F | 61 | Ascending | 4 | 5 | MLH1 | c.1963A > G | p.Ile655Val | Polymorphism | Y | Black |
| 1373 | F | 85 | Ascending | 1 | 5 | MLH1 | c.2152C > T | p.His718Tyr | VUS | N | Black |
| 62411 | M | 58 | Transverse | 4 | 5 | MLH1 | c.2152C > T | p.His718Tyr | VUS | Y | White |
| 1373 | F | 85 | Ascending | 1 | 5 | MSH2 | c.380A > G | p.Asn127Ser | Polymorphism | N | Black |
| 67844 | F | 61 | Ascending | 4 | 5 | MSH2 | c.380A > G | p.Asn127Ser | Polymorphism | Y | Black |
| 1519 | M | 57 | Sigmoid | 5 | 5 | MSH2 | c.965G > A | p.Gly322Asp | Polymorphism | N | White |
| 68655 | F | 79 | Ascending | 2 | 5 | MSH2 | c.965G > A | p.Gly322Asp | Polymorphism | N | White |
| 57244 | M | 83 | Cecum | 1 | 5 | MSH6 | c.1403G > A | p.Arg468His | VUS | N | White |
| 68947 | M | 59 | Sigmoid | 1 | 5 | MSH6 | c.1729C > T | p.Arg577Cys | VUS | N | White |
| 1766 | M | 55 | Ascending | 0 | 5 | MSH6 | c.2057G > A | p.Gly686Asp | VUS | Y | White |
| 64796 | M | 52 | Transverse | 5 | 5 | MSH6 | c.2633T > C | p.Val878Ala | VUS | N | White |
Abbreviations: MSI, microsatellite instability; CRC, colorectal cancer; M, male; VUS, variant of uncertain significance; N, no; F, female; Y, yes.
*
Yes if patient has one or more first-degree relative with colorectal or endometrial cancer.