Table 1.
Genes with rare LoF variants in individuals from GRBC, FBRCAX, CHUM-BC, and CARTaGENE.
| Gene | Nucleotide change | Protein change | rsid (v147) | GRBC carriers | GRBC families | FBRCAX carriers | CHUM-BC carriers | CARTaGENE carriers | MAF gnomAD |
|---|---|---|---|---|---|---|---|---|---|
| MDM1 | c.1180G > T | p.G394X | . | 2 | 1 | - | n/a | n/a | . |
| c.98dupA | p.R32fs | rs1339213002 | - | - | 1 | 1 | 1 | 0.0000203 | |
| NBEAL1 | c.3463G > T | p.E1155* | rs200689887 | 2 | 1 | - | n/a | n/a | 0.0006 |
| c.1654C > T | p.R552* | rs921590150 | - | - | 1 | - | 1 | 0.0000128 |
GRBC, Greek Breast Cancer study; FBRCAX, French-Canadian HBOC patients; CHUM-BC, breast cancer patients from Centre Hospitalier de l’Université de Montréal; CARTaGENE, CARTaGENE research platform; LoF, loss-of-function; “-”,variant was not detected; n/a, not applicable because variant not further interrogated in CHUM-BC and CARTaGENE as it was not detected in FBRCAX.