- Molecular pathology of colorectal cancer syndromes from Saudi patients.
| Syndromes | Germline alterations | Molecular methodology | Sample size | References |
|---|---|---|---|---|
| Lynch syndrome | PMS2 c.1376C>G, p.S459X, MLH1 c.1652A>C, p. N551T MSH2 c.2262-2267 delTTCTAC, p.T756-Y757 del MSH2 c.1226_1227delAG MSH2 c.1964.delT, p. V655fs MSH2 c.289C>T, Q97* MSH6 c.3475insT, p. Y1159fs MSH6 c.3475insT | MMR protein by IHC, MSI, and BRAF mutation testing and deep sequencing | 2.2% of all CRC (N=1207) | 19,20 |
| Lynch syndrome | MSH2 c.737A>T, p.K246I MSH2 c. 2262_2267del, p.S755_T756del MSH2 c.367-? __1276+? Del MSH2 c.2089T>C, p.C697R MSH2 c. 2038C>T, p.R680* MLH1 c.62C>T, p.A21V MLH1 c.1961C>T, p.P654L MLH1 c.677G>A, p.R226Q MLH1 c.454-?_545+?del | MMR protein by IHC, MSI, BRAF mutation testing, MLPA, deep sequencing, and Sanger sequencing | 7.2% of all CRC (N=284) | 21 |
| Lynch syndrome | Deletion of chromosomal regions: 2p21-2p16.3 (MSH2, MSH6, and EPCAM) 3p23-3p14.2 (MLH1) 7p22.1 (PMS2) 1p34.1-1p33 (MUTYH) | Whole genome comparative genomic hybridization array | N=12 (LS patients) | 24 |
| FAP syndrome | PMS2 c.1376C>G, p.S459X | WES | One case report | 19 |
FAP: familial adenomatous polyposis, MMR: mismatch repair, IHC: immunohistochemistry, MSI: microsatellite instability, BRAF: B-Raf, MLPA: multiplex ligation probe amplification, WES: whole-exome sequencing, CRC: colorectal cancer, LS: Lynch syndrome