Table 1.
Gene | Type | Gene Function | Breast | Ovarian |
---|---|---|---|---|
BRCA1/2 [3,4,5] | Mutation | DNA homologous recombination repair | Yes | Yes |
TP53 [1,3,5] | Mutation | Cell cycle checkpoint | Yes | Yes |
RB1 [3,5] | Mutation/Deletion | Cell cycle regulator | Yes | Yes |
NF1 [3,5] | Mutation/Deletion | Negative regulator cell division via Ras inhibition | Yes | Yes |
FAT3 [3,5,6] | Mutation | Central nervous system development | Yes | Yes |
CSMD3 [3,5,7] | Mutation, Copy Number | Development | - | Yes |
GABRA6 [5] | Mutation | GABA receptor, neurons | - | Yes |
CDK12 [5,8] | Mutation | RNA splicing regulation | - | Yes |
BRAF [5] | Mutation | Proto-oncogene, cell growth signals | - | Yes |
PIK3CA [3,5] | Mutation | Cell growth, Catalytic subunit of PI3k, signaling cascades including activation of Akt | Yes | Yes |
KRAS [5] | Mutation | Cell growth, Signal propagation including growth factor and PI3k signals | - | Yes |
NRAS [5] | Mutation | Cell growth, Signal propagation including growth factor and PI3k signals | - | Yes |
CCNE1 [5,9] | Copy Number Amplification |
Cycle E1—cell cycle regulation | - | Yes |
MYC [3,5] | Copy Number Amplification |
Txn factor, involved in cell cycle progression and apoptosis | Yes | Yes |
MECOM [5,10] | Copy Number Amp | Differentiation, apoptosis, stem cell quiescence [6] | - | Yes |
ZMYND8 [5,11] | Copy Number Amp | C-kinase receptor, possibly involved in DNA damage recognition [7] | - | Yes |
IRF2BP2 [5] | Copy Number Amp | P53 target | - | Yes |
ID4 [5,12] | Copy Number Amp | Transcription inhibition development, growth differentiation, senescence, apoptosis, angiogenesis | - | Yes |
PAX8 [5,13] | Copy Number Amp | Development | - | Yes |
TERT [5] | Copy Number Amp | Telomerase, genome stability | - | Yes |
PTEN [3,5] | Deletion | cell cycle and apoptosis, possibly migration, adhesion, and angiogenesis | Yes | Yes |
CREBBP [5] | Deletion | Cell cycle control | Yes | |
AKT1 [3] | Apoptosis | Yes | - | |
GATA3 [3,14] | Mutation | Differentiation of luminal cells, Estrogen Receptor pathway | Yes | - |
CDH1 [3] | - | Cell adhesion, cell cycle regulation | Yes | - |
MLL3/KMT2C [3,15] | - | Demethylation of H3K27, differentiation | Yes | - |
MAP3K1 [3] | - | MAPK/ERK pathway-cell cycle | Yes | - |
CDK1B [3] | - | Cell cycle progression | Yes | - |
TBX3 [3,16] | Mutation | Mammary gland development | Yes | - |
RUNX1 [3] | - | Development and differentiation, hematopoiesis | Yes | - |
CBFB [3] | - | Development, stem-cell homeostasis | Yes | - |
AFF2 [3,5,17] | - | Cell proliferation | Yes | Yes |
PTPN22 [3] | - | Immune signaling, responsiveness of T and B cells | Yes | - |
PTPRD [3] | - | Cell cycle, growth, differentiation | Yes | - |
SF3B1 [3] | - | Splicing | Yes | - |
CCND3 [3] | - | Cell cycle | Yes | - |