Cancer genetics

Updated protocols

The following protocols have received important updates in the past 90 days:

• Endocrine cancer and tumours – referring to genetics
• Mismatch repair (MMR) – genetic testing
• SMAD4 and BMPR1A (Juvenile polyposis) – genetic testing
• ATM – genetic testing
• CDH1 – genetic testing
• FH (fumarate hydratase) – genetic testing
• MEN1 and CDKN1B – genetic testing
• PTCH1 and SUFU – genetic testing
• PTEN – genetic testing
• RB1 – genetic testing
• STK11 – genetic testing
• TP53 – genetic testing
• VHL – genetic testing
• Ovarian cancer – referring to genetics
• ATM (monoallelic pathogenic variants) – risk management
• Breast cancer (high risk with ovarian cancer family history) – risk management (female)
• PTCH1 or SUFU (Gorlin) – risk management
• FH (Hereditary leiomyomatosis and renal cell carcinoma) – risk management
• Colorectal cancer (moderately increased risk) – risk management
• SMAD4 or BMPR1A (Juvenile polyposis) – risk management
• TP53 (Li-Fraumeni) – risk management (adult)
• TP53 (Li-Fraumeni) – risk management (child)
• MMR genes (Lynch syndrome) – risk management
• MEN1 or CDKN1B – risk management
• MUTYH-associated polyposis – risk management
• NF1 (Neurofibromatosis type 1) – risk management
• STK11 (Peutz-Jeghers) – risk management
• POLE or POLD1 (polymerase proofreading polyposis) – risk management
• Serrated polyposis syndrome – risk management
• Breast cancer (high risk with no family history of ovarian cancer) – risk management (female)
• CDH1 – risk management
• VHL (von Hippel-Lindau) disease – risk management
• PTEN (PTEN hamartoma/Cowden) – risk management
• Breast cancer (moderately increased risk) – risk management (female)
• Colorectal cancer or polyposis – referring to genetics
• Endometrial cancer – referring to genetics
• DICER1 – genetic testing
• NF1 – genetic testing
• General practitioner referral guidelines for cancer genetics assessment
• Gastric cancer – referring to genetics
• Breast cancer – panel testing
• CDC73 – genetic testing
• CDC73 (Hyperparathyroidism-jaw tumour syndrome) – risk management
• Colorectal cancer (high risk) – risk management
• Paraganglioma-phaeochromocytoma – panel testing
• DICER1 – risk management (adult)
• Medulloblastoma – panel testing
• CMMRD – risk management
• DICER1 – risk management (child)
• CMMRD – genetic testing
• ALK or PHOX2B – risk management
• Neuroblastoma – panel testing
• Beckwith-Wiedemann syndrome – risk management
• Paediatric cancer and tumours – referring to genetics
• CHEK2 – risk management (female)
• Clinically actionable gene table
• Wilms tumour – risk management
• RUNX1 – risk management
• Wilms tumour – panel testing
• BAP1 – genetic testing
• BAP1 − risk management
• Resources to assist in the care of transgender individuals referred to a clinical genetics service or familial cancer centre
• Sarcoma – genes for consideration
• Skin cancers and lesions – referring to genetics
• GATA2 deficiency syndrome – risk management
• SDHA, SDHB or SDHC-related familial paraganglioma-phaeochromocytoma – risk management
• SDHD or SDHAF2-related familial paraganglioma-phaeochromocytoma – risk management
• Gastrointestinal polyposis and colorectal cancer – panel testing