Table 4.
HNPCC Patients in This Study
| Pt. ID | Age at PBL sample | Gender | Gene | Germline MMR mutation | Mutation classification |
|---|---|---|---|---|---|
| H1 | 41 | m | MLH1 | ex 16 NM_000249.2:c.l772A>G NP_000240.1:p.Asp591Gly | Missense |
| H2 | 48 | f | MLH1 | ex 1 NM_000249.2:c.116G>A NP_000240.1:p.Cys39Tyr | Missense/splice |
| H3 | 71 | m | MLH1 | ex 8 NM_000249.2:c.676C>T NP_000240.1:p.Arg226* | Nonsense/stop |
| H4 | 36 | m | MSH2 | Ex5-int 4 NM_000251.1:c.861-1G>A | Splice |
| H5 | 46 | f | MSH2 | ex 13 NM_000251.1:c.2113delG NP_000242.1:p.Val705Trpfs*5 | Deletion/frameshift |
| H6 | 59 | m | MSH2 | ex 12 NM_000251.1:c.2047G>A NP_000242.1:p.Gly683Arg | Missense |
| H7a | 42 | m | MSH2 | NM_000251.1 :unknown | IHC (−) MSH2 |
Demographic data for the 7 HNPCC patients is shown. Patients are identified as H1 through H7, along with age at time of PBL sampling, gender, mismatch repair gene, and germline mutation associated with disease, and the mutation's classification. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines (www.hgvs.org/mutnomen). The initiation codon is codon 1.
a
Patient H7 was previously identified as Patient B in Coolbaugh et al. [2004]. Mutation nomenclature verified by Mutalyzer at http://eu.liacs.n1/mutalyzer/l.0.4/.