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. 2016 May 18;17(5):759. doi: 10.3390/ijms17050759

Table 1.

Comparison of significant genetic alterations in breast and ovarian cancers.

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 -