Table 3 Mutations of other Predisposition genes except BRCA1/2 in Triple Negative Breast Cancer
From: Therapeutic landscape in mutational triple negative breast cancer
Reference | Ethnicity/region | TNBC cases | Genes studied except BRCA1/2 | Mutations of other predisposition genes | Number of carriers |
|---|---|---|---|---|---|
Wong 2014 [86] | Australia | 347 TNBC | PALB2 (Coding regions, intron/exon boundaries) | 8 deleterious mutations | 41 cases |
Cybulski 2015 [15] | Poland | 1257 TNBC | PALB2 (c.509_510delGA; c.172_175delTTGT) | _ | 35 cases |
Heikkinen 2009 [16] | Finland | 76 familiar TNBC and 56 sporadic TNBC | FANCM (c.1592delT) | _ | 12 cases |
Kiiski 2014 [18] | Finland | 204 TNBC | FANCM (c.5101C > T) | _ | 12 cases |
Neidhardt 2017 [17] | Germany | 215 non-BRCA mutated, familiar TNBC | FANCM (Coding region) | 8 deleterious mutations | 4 cases |
Ollier 2015 [87] | France | 50 non-BRCA mutated, familiar TNBC | 36 DNA repair related genes (Coding regions, intron/exon boundaries) | 7 deleterious mutation in RAD51D; MRE11A; CHEK2; MLH1; MSH6; PALB2 | 7 cases |
Tung 2015 [81] | Caucasian/Hispanic/AJ/AA/Asian | 87 TNBC | 23 cancer susceptibility genes (Coding regions, intron/exon boundaries) | 3 deleterious mutations in BR1P1; RAD51D; NBN | 3 cases |
Sun 2017 [19] | China | 1104 TNBC | 44 cancer susceptibility genes (Coding regions, intron/exon boundaries) | 53 deleterious mutations mainly in PALB2, TP53, RAD51D and ATM | 53 cases |
Couch 2015 [6] | Caucasian/Hispanic/AA/Asian | 1824 TNBC | 15 other breast cancer susceptibility genes (Coding regions, intron/exon boundaries) | 67 deleterious mutations mainly in PALB2, BARD1, BR1P1, RAD51C, RAD51D, RAD50, and XRCC2 | 67 cases |