Here I present: “Turcot Mismatch-Repair Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Turcot不匹配-修复综合症。(MMRCS1).
INTRODUCTION.
Mismatch repair cancer syndrome (MMRCS) is an autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: (1) hematologic malignancies, (2) brain/central nervous system tumors, (3) colorectal tumors and (4) multiple intestinal polyps; and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type-1 (NF1).
There is evidence that mismatch repair cancer syndrome type-1 (MMRCS1) is caused by homozygous or compound heterozygous mutation in the mismatch repair gene MLH1 on cytogenetic location 3p22.2 and genomic coordinates 3:36,993,466-37,050,846. The screenshot of the MLH1 gene 57,381 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MLH1 on cytogenetic location 3p22.2 are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:36,400,001 | DDH2 | Developmental dysplasia of the hip 2 |
| 3:36,712,421 | DCLK3 | Doublecortin-like kinase 3 |
| 3:36,826,819 | TRANK1 | Tetratricopeptide repeat- and ankyrin protein 1 |
| 3:36,985,043 | EPM2AIP1 | EPM2A-interacting protein 1 |
| 3:36,993,466 | MLH1 | DNA mismatch repair protein MLH1 |
| 3:37,052,626 | LRRFIP2 | Leucine-rich repeat in FLII-interacting protein 2 |
| 3:37,243,271 | GOLGA4 | Golgin A4 |
| 3:37,381,077 | APRG1 | APRG1 tumor suppressor candidate |
| 3:37,452,141 | ITGA9 | Integrin, alpha-9 |
| 3:37,861,880 | CTDSPL | CTD small phosphatase-like |
