AD |
Autosomal dominant |
AR |
Autosomal recessive |
BASC |
BRCA1-associated genome surveillance complex |
BC |
Breast cancer |
cAMP |
Cyclic adenosine monophosphate |
DGC |
Diffuse-type gastric cancer |
DSB |
Double-strand break |
ERK |
Extracellular signal-regulated kinase |
FA |
Fanconi anemia |
GTP |
Guanosine triphosphate |
HBOC |
Hereditary Breast and Ovarian Cancer |
HDGC |
Hereditary Diffuse Gastric Cancer syndrome |
HR |
Homologous recombination |
LBC |
Lobular breast cancer |
LFS |
Li-Fraumeni syndrome |
LPV |
Likely-pathogenic variant |
LS |
Lynch syndrome |
MAPK |
Mitogen-activated protein kinase |
MBC |
Male breast cancer |
MMR |
Mismatch repair |
MRI |
Magnetic resonance imaging |
MRN |
MRE11-RAD50-NBS1 complex |
NA |
Not assessed |
NBS |
Nijmegen breakage syndrome |
NCCN |
National Comprehensive Cancer Network |
NGS |
Next-Generation Sequencing |
OC |
Ovarian cancer |
PARP |
Poly adenosine-diphosphate ribose polymerase |
PJS |
Peutz-Jeghers syndrome |
PML |
Promyelocytic leukemia protein |
PV |
Pathogenic variant |
RR |
Relative risk |
RRM |
Risk-reducing mastectomy |
RRSO |
Risk-reducing salpingo-oophorectomy |
TCGA |
The Cancer Genome Atlas |
VUS |
Variant of uncertain significance |