Review Article
Novel Implications in Molecular Diagnosis of Lynch Syndrome
Table 3
Patients carrying variants in several MMR genes: MSH6, PMS2, MSH3, and MLH3;
patient 504 showing also the UV in MSH2 gene (c.984 C>T) [
64].
| | Patients | MSH6 | PMS2 | MLH3 | MSH3 | Phenotype |
| | 9525 | ex4
c.2633 T>C (Val>Ala) | ex14
c.2324 A>G (Asn>Ser) | ex1
c.2530 C>T (Pro>Ser) c.2533 T>C (Ser>Pro) | IVS7 -9 T>C | Amsterdam + |
| | 013 | | ex6
c.665G>C (Ser>Thr) IVS6 +16A>G | ex1
c.2533 T>C (Ser>Pro) | | No Amsterdam
MSI-H |
| | 103 | ex5
c.3261_62insC (Phe>stop) | | ex1
c.2533 T>C (Ser>Pro) | ex12
c.1860G>A (Asp>Asn) | No Amsterdam
later onset MSI-H |
| | 423 | | IVS12-4G>A | ex1
c.2530 C>T (Pro>Ser)
c.2533 T>C (Ser>Pro) | | Amsterdam + later onset
MSI-L |
| | 015 | ex5
c.3295_97delTT (Ile>stop) | | ex1
c.666 G>A (Lys)
c.2191 G>T (Val>Phe)
c.2533A>G (Ser>Gly) | | Amsterdam +
MSI-H |
| | 210 | ex4
c.2941 A>G (Ile>Val) | IVS6+16A>G
ex13
c.2324 T>C (Phe) | ex1
c.2530 C>T (Pro>Ser) | IVS6-64 C>T | Amsterdam +
MSI not detected |
| | 211 | ex4
c.2941 A>G (Ile>Val) | IVS12-4 G>A | | IVS6-64 C>T | Amsterdam +
MSI not detected |
| | 416 | | ex11
c.1714C>A (Thr>Lys) | ex 1
c.2027G>A (Arg>Lys) | IVS6-64 C>T | Amsterdam +
MSI-H |
| | | | | ex4
c.693G>A (Pro)
ex20
c.2732 T>G (Leu>Trp) | Amsterdam +
MSI-H |
|
|
