Table 3.
Potentially pathogenic VUS identified in 2 or more individuals/PDAC cases from different families.
| Genbank accession an transcript | rs code | MAF Frequency (dbSNP) | Number of cases/individuals and family phenotype |
|---|---|---|---|
| NM_000136.2(FANCC):c.584A>T (p.Asp195Val)* | 1800365 | 0.011 | 4 PC cases (3 from FPC family and 1 from HBOC + PC family) |
| NM_001142548.1(RAD54L):c.1487G>C (p.G496A)* | 138546115 | 0.002 | 2 PC cases and 1 PC/breast case (PC case from HBOC + PC and PC/breast case from FPC and PC case from PC<=50 years family) |
| NM_000535.6(PMS2):c.52A>G (p.Ile18Val)* | 63750123 | 0.01 | 2 PC cases (1 from FPC and 1 from FPC>=3 PC family) |
| 0NM_000249.3(MLH1):c.1853A>C (p.Lys618Trp)* | 63750449 | 0.001 | 2 PC cases (1 from PC<=50 years and 1 from FPC>=3 PC family) |
| NM_001128425.1 (MUTYH): c.1187G>A (p.Gly396Asp)* | 36053993 | 0.009 | 2 PC cases (1 from FPC and1 from HBOC + PC family) |
| NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) | 1801166 | 0.006 | 1 PC case and 1 breast case (PC case from FPC and breast case from HBOC + PC family) |
| NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) | 373885282 | 0.00004 | 1 PC cases and 2 high risk (1 PC case from FPC and 2 high risk from the same FPC>=3 PC family) |
| NM_001211.5(BUB1):c.341G>A (p.Arg114Gln) | 1,372115983 | 0.000008 | 1 high risk and 1 BRCA2 carrier from HBOC + PC <=50 Y families |
⁎
variants found in at least 2 PC cases from different families.
FPC: at least 2 affected 1st degree relatives; FPC>=3 PC: 3 or more affected 1st degree relatives; FPC + <=50 years: 2 affected 1st degree relatives and one diagnosed at less than age 50; HBOC + PC: hereditary breast and ovarian cancer with at least one case of PC; HBOC + PC <=50 Y: hereditary breast and ovarian cancer with at least one case of PC less than 50 years of age; PC<=50 years: 1 affected case less than 50 years of age.