Cancer genetics

Updated protocols

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

• FLCN (folliculin) – genetic testing
• Breast cancer – referring to genetics
• ATM (monoallelic pathogenic variants) – risk management
• PALB2 – 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
• CDKN2A – 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)
• MEN1 or CDKN1B – risk management
• MUTYH-associated polyposis – risk management
• STK11 (Peutz-Jeghers) – risk management
• POLE or POLD1 (polymerase proofreading polyposis) – risk management
• Breast cancer (high risk with no family history of ovarian cancer) – risk management (female)
• BRCA1 or BRCA2 – risk management (male)
• FLCN (Birt-Hogg-Dubé) - risk management
• Breast cancer (moderately increased risk) – risk management (female)
• Facts for people and families with Birt-Hogg-Dubé syndrome
• Facts for people and families with a faulty BRCA1 gene
• Facts for people and families with a faulty BRCA2 gene
• Facts for people and families with a faulty PALB2 gene
• Facts for people and families with a faulty CDKN2A gene
• Colorectal cancer (high risk) – risk management
• CDKN2A – genetic testing
• ALK or PHOX2B – risk management
• Beckwith-Wiedemann syndrome – risk management
• CHEK2 – risk management (female)
• Rhabdoid tumour predisposition syndrome – panel testing
• SMARCA4-associated rhabdoid tumour predisposition syndrome – risk management
• SMARCB1-associated rhabdoid tumour predisposition syndrome – risk management
• BRCA1 or BRCA2 – risk management (female)
• Wilms tumour – risk management
• RUNX1 – risk management
• BAP1 − risk management
• HOXB13 (G84E) – risk management (male)
• SDHA, SDHB or SDHC-related familial paraganglioma-phaeochromocytoma – risk management
• SDHD or SDHAF2-related familial paraganglioma-phaeochromocytoma – risk management
• AIP – risk management