Table 2.
Frequently occurring potentially pathogenic variants in new candidate cancer predisposing genes in French Canadians of Quebec 1.
| Gene | Canonical Transcript | Coding Change 2 | Protein Change 2 | Shared Haplotype in Carriers | Source(s) |
|---|---|---|---|---|---|
| BARD1 | NM_000465.4 | c.1075_1095dup | p.Leu359_Pro365dup | - | 134 |
| c.1930G > A | p.Val644Ile | - | 134 | ||
| c.2212A > G | p.Ile738Val | - | 134 | ||
| BRIP1 | NM_032043.3 | c.577G > A | p.Val193Ile | - | 126 |
| c.2097 + 7G > A | - | - | 126 | ||
| CHEK2 | NM_007194.4 | c.1100del | p.Thr367MetfsTer15 | - | 85, 105 |
| c.1217G > A | p.Arg406His | - | 129 | ||
| MRE11 | NM_005590.4 | c.1516G > T | p.Glu506Ter | - | 136 |
| PALB2 | NM_001005735.2 | c.226A > G | p.Ile76Val | - | 108 |
| c.1273G > A | p.Val425Met | - | 105 | ||
| c.1676A > G | p.Gln559Arg | - | 105 | ||
| c.2323C > T | p.Gln775Ter | Yes | 84, 85, 107, 108, 107 | ||
| c.2590C > T | p.Pro864Ser | - | 105 | ||
| RAD51D | NM_002878.4 | c.620C > T | p.Ser207Leu | Yes | 119 |
| RECQL | NM_032941.2 | c.643C > T | p.Arg215Ter | - | 53 |
| TP53 | NM_000546.5 | c.638G > A | p.Arg213Gln | - | 102, 103 |
| NM_000546.5 | c.703A > G | p.Asn235Asp | - | 103 | |
| NM_000546.5 | c.730G > A | p.Gly244Ser | - | 103 | |
| NM_000546.5 | c.742C > T | p.Arg248Trp | - | 103 | |
| NM_000546.5 | c.844C > T | p.Arg282Trp | - | 103 |
-: Data not available. 1 See Table S3 for more information on variants. 2 All annotated variants are based on the Human Genome Reference GRCh37/hg19 and the HGVS nomenclature guidelines.