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Cancer genetics
Adult
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Genetic testing for heritable pathogenic variants
AIP – genetic testing
APC – genetic testing
ATM – genetic testing
BAP1 – genetic testing
BRCA1, BRCA2 and PALB2 (truncating variants) – genetic testing
CDC73 – genetic testing
CDH1 – genetic testing
CDKN2A – genetic testing
DICER1 – genetic testing
FH (fumarate hydratase) – genetic testing
FLCN (folliculin) – genetic testing
MEN1 and CDKN1B – genetic testing
Mismatch repair (MMR) – genetic testing
MUTYH – genetic testing (biallelic)
NF1 – genetic testing
NF2 – genetic testing
PALB2 – genetic testing
POLE and POLD1 – genetic testing
PTCH1 and SUFU – genetic testing
PTEN – genetic testing
RB1 – genetic testing
RET (MEN2) – genetic testing
SDHA – genetic testing
SDHAF2 – genetic testing
SDHB – genetic testing
SDHC – genetic testing
SDHD – genetic testing
SMAD4 and BMPR1A (Juvenile polyposis) – genetic testing
STK11 – genetic testing
TP53 – genetic testing
VHL – genetic testing
Genetic testing using cancer gene panels
Breast cancer – panel testing
Gastrointestinal polyposis and colorectal cancer – panel testing
Ovarian cancer (epithelial) – panel testing
Pancreatic cancer – panel testing
Paraganglioma-phaeochromocytoma – panel testing
Prostate cancer – panel testing
Renal cancer – panel testing
Sarcoma – genes for consideration
Risk management
AIP – risk management
APC (Familial adenomatous polyposis) – risk management
ATM (monoallelic pathogenic variants) – risk management
BAP1 − risk management
BRCA1 or BRCA2 – risk management (female)
BRCA1 or BRCA2 – risk management (male)
Breast cancer (high risk with no family history of ovarian cancer) – risk management (female)
Breast cancer (high risk with ovarian cancer family history) – risk management (female)
Breast cancer (moderately increased risk) – risk management (female)
BRIP1 – risk management
CDC73 (Hyperparathyroidism-jaw tumour syndrome) – risk management
CDH1 – risk management
CDKN2A – risk management
CHEK2 – risk management (female)
Colorectal cancer (high risk) – risk management
Colorectal cancer (moderately increased risk) – risk management
DICER1 – risk management (adult)
FH (Hereditary leiomyomatosis and renal cell carcinoma) – risk management
FLCN (Birt-Hogg-Dubé) - risk management
HOXB13 (G84E) – risk management (male)
MEN1 or CDKN1B – risk management
MET (Hereditary papillary renal carcinoma) – risk management
MMR genes (Lynch syndrome) – risk management
MUTYH-associated polyposis – risk management
NF1 (Neurofibromatosis type 1) – risk management
NF2 (Neurofibromatosis type 2) – risk management
Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management
PALB2 – risk management
Pancreatic cancer (increased risk) – risk management
POLE or POLD1 (polymerase proofreading polyposis) – risk management
PTCH1 or SUFU (Gorlin) – risk management
PTEN (PTEN hamartoma/Cowden) – risk management
RAD51C – risk management
RAD51D – risk management
RET (MEN2) – risk management
SDHA, SDHB or SDHC-related familial paraganglioma-phaeochromocytoma – risk management
SDHD or SDHAF2-related familial paraganglioma-phaeochromocytoma – risk management
Serrated polyposis syndrome – risk management
SMAD4 or BMPR1A (Juvenile polyposis) – risk management
STK11 (Peutz-Jeghers) – risk management
TP53 (Li-Fraumeni) – risk management (adult)
VHL (von Hippel-Lindau) disease – risk management
Colorectal polyposis (no specific type) – risk management DISCONTINUED
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