Skip to main content

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