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Counsyl Inherited Cancer Screen gene list

The following genes are currently available for hereditary cancer screening.

View available panels

GeneAssociated syndromeBreastOvarianEndometrialColorectalPancreaticGastricProstateThyroidMelanomaNeuroendocrine
Comprehensive Panel genes

APC

Familial adenomatous polyposis

X

X

X

X

ATM

ATM-associated hereditary cancer

X

X

BMPR1A

Juvenile polyposis

X

X

BRCA1

BRCA-related breast and ovarian cancer syndrome

X

X

X

X

BRCA2

BRCA-related breast and ovarian cancer syndrome

X

X

X

X

X

BRIP1

BRIP1-associated hereditary cancer

X

CDH1

Hereditary diffuse gastric cancer

X

X

X

CDK4

Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome

X

CDKN2A

Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome

X

X

CHEK2

CHEK2-associated hereditary cancer

X

X

EPCAM

Lynch syndrome

X

X

X

X

X

GREM1

Hereditary mixed polyposis syndrome (HMPS)

X

MLH1

Lynch syndrome

X

X

X

X

X

MSH2

Lynch syndrome

X

X

X

X

X

MSH6

Lynch syndrome

X

X

X

X

X

MUTYH

MUTYH-associated polyposis

X

PALB2

PALB2-associated hereditary cancer

X

X

PMS2

Lynch syndrome

X

X

X

X

X

POLD1

Polymerase proofreading associated polyposis (PPAP) syndrome

X

X

POLE

Polymerase proofreading associated polyposis (PPAP) syndrome

X

PTEN

PTEN hamartoma tumor syndrome

X

X

X

X

RAD51C

RAD51C-associated hereditary cancer

X

RAD51D

RAD51D-associated hereditary cancer

X

RET

Multiple endocrine neoplasia, type 2

X

X

SMAD4

Juvenile polyposis

X

X

STK11

Peutz-Jeghers

X

X

X

X

X

X

TP53

Li-Fraumeni syndrome

X

X

X

X

X

X

X

X

X

VHL

Von Hippel-Lindau

X

Additional Expanded Panel genes

BARD1

BARD1-associated hereditary cancer

X

X

MEN1

Multiple endocrine neoplasia, type 1

X

MRE11A

MRE11A-associated hereditary cancer

X

X

NBN

NBN-associated hereditary cancer

X

RAD50

RAD50-associated hereditary cancer

X

X

SDHA

Hereditary paraganglioma-pheochromocytoma

X

SDHB

Hereditary paraganglioma-pheochromocytoma

X

SDHC

Hereditary paraganglioma-pheochromocytoma

X

Table not representative of all possible cancer risks. Testing for select genes is not yet available in New York State.

Inherited Cancer Screen Panels

Select one of the panel options below, or create a custom panel with any other combination of genes.

Comprehensive Panel

Includes 28 genes with clear cancer risks and patient management guidelines

  • APC
  • ATM
  • BMPR1A
  • BRCA1
  • BRCA2
  • BRIP1
  • CDH1
  • CDK4
  • CDKN2A
  • CHEK2
  • EPCAM
  • GREM1
  • MLH1
  • MSH2
  • MSH6
  • MUTYH
  • PALB2
  • PMS2
  • POLD1
  • POLE
  • PTEN
  • RAD51C
  • RAD51D
  • RET
  • SMAD4
  • STK11
  • TP53
  • VHL

Expanded Panel

Includes all genes from the Comprehensive Panel plus these 8 additional genes

  • BARD1
  • MEN1
  • MRE11A
  • NBN
  • RAD50
  • SDHA
  • SDHB
  • SDHC

BRCA Panel

Full sequencing of BRCA1 and BRCA2, including large deletions and duplications

  • BRCA1
  • BRCA2

Lynch Syndrome Panel

Includes genes from the Comprehensive Panel associated with Lynch Syndrome

  • EPCAM
  • MLH1
  • MSH2
  • MSH6
  • PMS2

Breast Panel

Includes genes from the Comprehensive Panel associated with breast cancer

  • ATM
  • BRCA1
  • BRCA2
  • CDH1
  • CHEK2
  • PALB2
  • PTEN
  • STK11
  • TP53

Melanoma Panel

Includes genes from the Comprehensive Panel associated with melanoma

  • BRCA2
  • CDK4
  • CDKN2A

Pancreatic Panel

Includes genes from the Comprehensive Panel associated with pancreatic cancers

  • APC
  • ATM
  • BRCA1
  • BRCA2
  • CDKN2A
  • EPCAM
  • MLH1
  • MSH2
  • MSH6
  • PALB2
  • PMS2
  • STK11
  • TP53

Gynecological Panel

Includes genes from the Comprehensive Panel associated with ovarian, endometrial, and other gynecological cancers

  • BRCA1
  • BRCA2
  • BRIP1
  • EPCAM
  • MLH1
  • MSH2
  • MSH6
  • PMS2
  • POLD1
  • PTEN
  • RAD51C
  • RAD51D
  • STK11
  • TP53

Gastrointestinal Panel

Includes genes from the Comprehensive Panel associated with gastric, colorectal, and other gastrointestinal cancers

  • APC
  • BMPR1A
  • CDH1
  • CHEK2
  • EPCAM
  • GREM1
  • MLH1
  • MSH2
  • MSH6
  • MUTYH
  • PMS2
  • POLD1
  • POLE
  • PTEN
  • SMAD4
  • STK11
  • TP53

Neuroendocrine Panel

Includes genes associated with neuroendocrine tumors

  • MEN1
  • RET
  • SDHA
  • SDHB
  • SDHC
  • VHL
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