Genomic coordinate 7:5,970,925
Here I present: “Turcot Glioblastoma Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 圖爾科綜合症。icd10=C71.6
INTRODUCTION.
Mismatch repair cancer syndrome is a cancer syndrome associated with biallelic DNA mismatch repair mutations. It is also known as Turcot syndrome (after Jacques Turcot, who described the condition in 1959).
Mismatch repair cancer syndrome type-4 (MMRCS4) is an autosomal recessive childhood cancer syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma. Cafe-au-lait spots are usually present.
There is evidence that mismatch repair cancer syndrome type-4 is caused by homozygous or compound heterozygous mutation in the PMS2 gene on cytogenetic location 7p22.1 and genomic coordinates 7:5,970,925-6,009,106. The screenshot of the PMS2 gene 38,182 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PMS2 in the 7p22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:5,592,816 | FSCN1 | Fascin homolog 1, actin-bundling protein |
| 7:5,620,047 | RNF216 | RING finger protein 216 |
| 7:5,859,718 | OCM | Oncomodulin |
| 7:5,898,733 | CCZ1 | CCZ1 homolog, vacuolar protein |
| 7:5,970,925 | PMS2 | PMS1 homolog 2, mismatch repair system component |
| 7:6,009,272 | AIMP2 | Aminoacyl tRNA synthetase interact multifunctional protein 2 |
| 7:6,022,247 | EIF2AK1 | Eukaryotic translation initiation factor 2-alpha kinase 1 |
| 7:6,081,241 | USP42 | Ubiquitin-specific peptidase 42 |
| 7:6,161,779 | CYTH3 | Cytohesin 3 |
| 7:6,329,411 | FAM220A | Family with sequence similarity 220, member A |
