SCIENTIFIC BACKGROUND

AIP, AKT1, ANKRD26, AP2S1, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CASR, CDC73, CDH1, CDH23, CDK12, CDK4, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1,

CHEK2, CTNNA1, DDB2, DDX41, DICER1, DLST, EGLN1, EPAS1, EPCAM, EPOR, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GCM2, GNA11, GNAS, GPR101, GREM1, HOXB13, KIF1B, KIT, KITLG, LZTR1, MAD2L2, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51B, RAD51C, RAD51D,

RAD54L, RB1, RECQL, RECQL4, RET, RFWD3, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRP72, STK11, SUFU, TERT, TMEM127, TP53,

TSC1, TSC2, UBE2T, VHL, WT1, XPA, XPC, XRCC2, XRCC3

Category: Hereditary Cancer Panels Predict&Prevent

Description

The comprehensive cancer panel analyses 54 genes associated with >30 cancer types spanning across 10 organs and systems including breast, ovary, colon, endocrine system, pancreas, stomach, prostate, skin, kidney and nervous system/brain. The outcome of the test can be a risk estimation of developing cancer from a genetic cause. If a person has an estimated high cancer risk, certain actions can be taken to reduce the likelihood of developing the cancer such as undergoing routine monitoring. Additionally, family members can be informed and encouraged to have a test.

If a pathogenic variant is identified in one of the associated genes, the risk of developing one of these syndromes is higher as compared to the average risk in the general population. Conversely, if a pathogenic variant is not identified, this does not preclude the possibility of developing cancer from unknown genetic factors or sporadic causes.

Our genetic counsellors can provide a detailed interpretation of the diagnostic report and advice on preventative measures and surveillance recommendations.

Disorders included

Basal Cell Carcinoma Syndrome/Gorlin-Goltz Syndrome
Birt-Hogg-Dub Syndrome
Breast Cancer
Colorectal Cancer
Constitutional Mismatch Repair Deficiency
DICER1 Syndrome
Familial Adenomatous Polyposis
Fanconi Anemia
Gastric Cancer
Hereditary Mixed Polyposis
Hyperparathyroidism-Jaw Tumor Syndrome
Juvenile Polyposis Syndrome
Leiomyomatosis and Renal Cell Cancer
Li-Fraumeni Syndrome
Lynch Syndrome
Medullary Thyroid Carcinoma
Melanoma
Multiple Endocrine Neoplasia (MEN) 1
MEN2
MEN4
Neurofibromatosis, Type I
Ovarian Cancer
Pancreatic Cancer
Paragangliomas
Parathyroid Carcinoma
Peutz-Jeghers Syndrome
Pheochromocytoma
PTEN Hamartoma Tumor Syndrome
Renal Cell Carcinoma
Sessile Serrated Polyposis Cancer Syndrome
Tumor Predisposition Syndrome
Von Hippel-Lindau Syndrome

GENES

AIP, AKT1, ANKRD26, AP2S1, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CASR, CDC73, CDH1, CDH23, CDK12, CDK4, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1, CHEK2, CTNNA1, DDB2, DDX41, DICER1, DLST, EGLN1, EPAS1, EPCAM, EPOR, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GCM2, GNA11, GNAS, GPR101, GREM1, HOXB13, KIF1B, KIT, KITLG, LZTR1, MAD2L2, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RAD54L, RB1, RECQL, RECQL4, RET, RFWD3, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRP72, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, WT1, XPA, XPC, XRCC2, XRCC3