To see all protocols that comply with the WHO Essential Medicine List 

The table lists genes associated with familial cancer risk for which there is consensus by the majority of Australian family cancer and genetics servicesr that pathogenic variants are clinically actionable for diagnostic and/or predictive gene testing. This list has been reviewed, refined and approved by the eviQ Cancer Genetics Reference Committees.

Clinical genetics services or familial cancer centres will assess the clinical utility of offering gene testing to individual patients referred to them. See eviQ's Guide for health professionals ordering genetic testing for information about ordering genetic testing.

When considering testing of genes as part of a panel, it is recommended that included genes be relevant to the patient’s clinical picture (phenotype).

There are many other genes associated with cancer risks for which testing may be considered appropriate in the setting of a rare phenotype.

Predictive testing should not be offered when a variant of uncertain significance or benign/likely benign variant has been identified in a family.

Gene (actionable variants where relevant)

Gene/s Genetic testing protocol Risk management protocol
ALK

Neuroblastoma panel testing

ALK or PHOX2B – risk management

APC

APC genetic testing

Medulloblastoma panel testing

Pancreatic cancer panel testing

APC (Familial adenomatous polyposis) – risk management

 

 

ATM (c.7271T>G)

ATM (c.7271T>G) genetic testing

Breast cancer panel testing

ATM (monoallelic c.7271T>G) – risk management (female)

 

AXIN2 Rare; not planned Rare; not planned
BAP1

BAP1 genetic testing

Renal cancer panel testing

BAP1 – risk management

 

BMPR1A

SMAD4 and BMPR1A (Juvenile polyposis) genetic testing

Pancreatic cancer panel testing

SMAD4 or BMPR1A (Juvenile polyposis) – risk management

 

BRCA1

BRCA1 and BRCA2 genetic testing

Breast cancer panel testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

Prostate cancer panel testing

BRCA1 or BRCA2 – risk management (female)

BRCA1 or BRCA2 – risk management (male)

 

 

 

BRCA2

BRCA1 and BRCA2 genetic testing

Breast cancer panel testing

Medulloblastoma panel testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

Prostate cancer panel testing

BRCA1 or BRCA2 – risk management (female)

BRCA1 or BRCA2 – risk management (male)

 

 

 

BRIP1 Ovarian cancer (epithelial) panel testing

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

CDC73 CDC73 genetic testing CDC73 (Hyperparathyroidism-jaw tumour syndrome) – risk management
CDH1

CDH1 genetic testing

Breast cancer panel testing

CDH1 – risk management

 

CDKN1B Under development Under development
CDKN2A

CDKN2A genetic testing

Pancreatic cancer panel testing

CDKN2A – risk management

 

CHEK2 (truncating variants) Breast cancer panel testing CHEK2 – risk management (female)
DICER1

DICER1 genetic testing

 

DICER1 – risk management (adult)

DICER1 – risk management (child)

EPCAM

Medulloblastoma panel testing

Mismatch repair (MMR) genetic testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

MMR genes (Lynch syndrome) – risk management

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

 

FH

FH (fumarate hydratase) genetic testing

Paraganglioma-phaeochromocytoma panel testing

Renal cancer panel testing

FH (Hereditary leiomyoma renal cell carcinoma) – risk management

 

 

FLCN

FLCN (folliculin) genetic testing

Renal cancer panel testing

FLCN (Birt-Hogg-Dubé) – risk management

 

GREM1 (upstream duplication) Planned Planned
HOXB13 G84E (c.251G>A) Prostate cancer panel testing Under development
MEN1

MEN1 genetic testing

Paraganglioma-phaeochromocytoma panel testing

MEN1 – risk management

 

MET (gain of function variants) Renal cancer panel testing MET (Hereditary papillary renal cell carcinoma type 1) – risk management
MLH1

CMMRD genetic testing

Medulloblastoma panel testing

Mismatch repair (MMR) genetic testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

Prostate cancer panel testing

CMMRD – risk management

MMR genes (Lynch syndrome) – risk management

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

 

 

MSH2

CMMRD genetic testing

Medulloblastoma panel testing

Mismatch repair (MMR) genetic testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

Prostate cancer panel testing

CMMRD – risk management

MMR genes (Lynch syndrome) – risk management

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

 

 

MSH6

CMMRD genetic testing

Medulloblastoma panel testing

Mismatch repair (MMR) genetic testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

Prostate cancer panel testing

CMMRD – risk management

MMR genes (Lynch syndrome) – risk management

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

 

 

MUTYH (biallelic variants)

MUTYH genetic testing (biallelic)

MUTYH associated polyposis – risk management

NF1

NF1 genetic testing

Breast cancer panel testing

Paraganglioma-phaeochromocytoma panel testing

NF1 (Neurofibromatosis type 1) – risk management

 

 

NF2

NF2 genetic testing

NF2 (Neurofibromatosis type 2) – risk management

PALB2 (truncating variants)

PALB2 genetic testing

Breast cancer panel testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

PALB2 – risk management (female)

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

 

PHOX2B

Neuroblastoma panel testing

ALK or PHOX2B – risk management

PMS2

CMMRD genetic testing

Medulloblastoma panel testing

Mismatch repair (MMR) genetic testing

Ovarian cancer (epithelial) panel testing

Pancreatic cancer panel testing

Prostate cancer panel testing

CMMRD – risk management

MMR genes (Lynch syndrome) – risk management

Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management

 

 

POLD1

POLE and POLD1 genetic testing

POLE or POLD1 (polymerase proofreading polyposis) – risk management

POLE

POLE and POLD1 genetic testing

POLE or POLD1 (polymerase proofreading polyposis) – risk management

PTCH1

PTCH1 and SUFU genetic testing

Medulloblastoma panel testing

PTCH1 or SUFU (Gorlin) – risk management

 

PTEN

PTEN genetic testing

Breast cancer panel testing

Renal cancer panel testing

PTEN (PTEN hamartoma/Cowden) – risk management

 

 

RAD51C Ovarian cancer (epithelial) panel testing Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management
RAD51D Ovarian cancer (epithelial) panel testing Ovarian cancer (epithelial) increased risk (excluding BRCA1 and BRCA2 genes) – risk management
RB1

RB1 genetic testing

RB1 (non-retinoblastoma cancer risk) – risk management

RET (gain of function variants)

RET (MEN2) genetic testing

Paraganglioma-phaeochromocytoma panel testing

RET (MEN2) – risk management

 

SDHA

Paraganglioma-phaeochromocytoma panel testing

Renal cancer panel testing

SDH-related familial paraganglioma-phaeochromocytoma – risk management

 

SDHB

Paraganglioma-phaeochromocytoma panel testing

Renal cancer panel testing

SDH-related familial paraganglioma-phaeochromocytoma – risk management

 

SDHC

Paraganglioma-phaeochromocytoma panel testing

Renal cancer panel testing

SDH-related familial paraganglioma-phaeochromocytoma – risk management

 

SDHD

Paraganglioma-phaeochromocytoma panel testing

Renal cancer panel testing

SDH-related familial paraganglioma-phaeochromocytoma – risk management

 

SMAD4

SMAD4 and BMPR1A (Juvenile polyposis) genetic testing

SMAD4 or BMPR1A (Juvenile polyposis) – risk management

SMARCA4

Rhabdoid tumour predisposition syndrome panel testing

SMARCA4 – risk management

SMARCB1

Rhabdoid tumour predisposition syndrome panel testing

SMARCB1 – risk management

STK11

STK11 genetic testing

Breast cancer panel testing

Pancreatic cancer panel testing

STK11 (Peutz-Jeghers) – risk management

 

 

SUFU

PTCH1 and SUFU genetic testing

Medulloblastoma panel testing

PTCH1 or SUFU (Gorlin) – risk management

 

TP53

TP53 genetic testing

Breast cancer panel testing

Medulloblastoma panel testing

Pancreatic cancer panel testing

TP53 (Li-Fraumeni) – risk management (adult)

TP53 (Li-Fraumeni) – risk management (child)

 

 

TSC1 Renal cancer panel testing Outside eviQ's scope
TSC2 Renal cancer panel testing Outside eviQ's scope
VHL

VHL genetic testing

Paraganglioma-phaeochromocytoma panel testing

Renal cancer panel testing

VHL (von Hippel-Lindau disease) – risk management

 

 

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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https://www.eviq.org.au/p/3738

23 Sep 2021