Gene List and Associated Cancer Type

Browse gene-cancer associations by test type:

OncoAlly® Hereditary Cancer Analyses

Abbreviations

ALL: Acute lymphoblastic leukemia, AML: Acute myeloid leukemia, B-ALL: B-cell acute lymphocytic leukemia, BCC: Basal cell carcinoma, CLL: Chronic lymphocytic leukemia, CMML: Chronic myelomonocytic leukemia, GIST: Gastrointestinal stromal tumor, JMML: Juvenile myelomonocytic leukemia, MDS: Myelodysplastic syndromes, MPD: Myeloproliferative disorders, MPN: Myeloproliferative neoplasms, MPNST: Malignant peripheral nerve sheath tumor

Gene

Cancer Type

Included in

ABRAXAS1

Breast

ACD

Melanoma

ALK

Neuroblastoma

APC

Colorectal, Gastric, Other

ATM

Brain, Breast, Lymphoid, Pancreatic, Prostate, Other

ATR

Breast, Gastric, Ovarian, Prostate, Other

AXIN2

Colorectal

BAP1

Melanoma, Renal, Other

BARD1

Breast

BLM

Leukemia, Lymphoma, Mesothelioma, Other

BMPR1A

Colorectal, Gastric, Other

BRCA1

Breast, Hematologic, Ovarian, Pancreatic, Prostate, Other

BRCA2

Breast, Ovarian, Pancreatic, Prostate, Other

BRIP1

Ovarian

BUB1B

Renal, Other

CDC73

Parathyroid

CDH1

Breast, Colorectal, Gastric

CDK4

Melanoma, Pancreatic

CDKN1B

Endocrine

CDKN2A

Melanoma, Pancreatic

CEBPA

AML

CHEK2

Breast, Colorectal

CLDN2

Pancreatic

CPA1

Pancreatic

CSF3R

AML, MDS

CTNNA1

Gastric

CTRC

Pancreatic

CTR9

Renal

DDX41

AML, MDS

DICER1

Ovarian, Renal, Thyroid, Other

DIS3L2

Renal

EGFR

Lung

EGLN1

Endocrine

ELP1

Meduloblastoma

EPCAM

Colorectal, Endometrial, Ovarian, Pancreatic

ERBB2

Breast, Lung, Pancreatic

ETV6

ALL, AML, MDS

FH

Renal

FLCN

Melanoma, Renal

FOCAD

Colorectal (Juvenile polyposis syndrome)

GALNT12

Colorectal

GATA2

AML, MDS

GPC3

Liver, Neuroblastoma, Renal

GREM1

Colorectal

GSKIP

AML, CMML

HOXB13

Prostate

HRAS

Bladder, Neuroblastoma, Rhabdomyosarcoma

IKZF1

ALL

KIF1B

Brain, Endocrine

KIT

GIST

LZTR1

Brain, JMML, Schwannoma,

MAX

Endocrine

MBD4

AML, Colorectal, Uveal Melanoma

MC1R

Melanoma

MEN1

Thyroid (MTC)

MET

Lymphoma, Renal

MITF

Melanoma, Renal

MLH1

Colorectal, Endometrial

MLH3

Colorectal

MSH2

Colorectal, Endometrial

MSH3

Colorectal

MSH6

Colorectal, Endometrial

MUTYH

Colorectal

NBN

ALL

NF1

MPNST

NF2

Meningioma

NTHL1

Colorectal

PALB2

Breast

PAX5

B-ALL

PDGFRA

GIST

PHOX2B

Neuroblastoma

PMS2

Colorectal

POLD1

Colorectal

POLE

Colorectal

POT1

Brain, CLL, Melanoma, Other

PRKAR1A

Adrenocortical

PRESS1

Pancreatic

PTCH1

BCC, Medulloblastoma, T-ALL

PTEN

Breast, Colorectal, Endometrial, Other

PTPN11

JMML, MPD

RAD51C

Breast, Ovarian

RAD51D

Breast, Ovarian, Prostate

RB1

Retinoblastoma

RECQL4

Osteosarcoma, Skin

RET

Thyroid

RHBDF2

Esophageal

RNASEL

Prostate

RNF43

Colorectal

RPLS

AML, Sarcoma

RPS20

Colorectal

RUNX1

AML, MDS, T-ALL

SAMD9

AML, MDS

SAMD9L

AML, MDS

SDHA

Endocrine, Renal

SDHAF2

Endocrine, Renal

SDHB

Endocrine, Renal

SDHC

Endocrine, Renal, Sarcoma

SDHD

Endocrine, Renal

SLC25A11

Endocrine

SMAD4

Colorectal

SMARCA4

Rhabdoid tumor

SMARCB1

Rhabdoid tumor

SMARCE1

Meningioma

SOS1

JMML, Sarcoma

SPINK1

Pancreatic

SRP72

MDS

STK11

Breast, Colorectal, Ovarian, Pancreatic, Other

SUFU

BCC, Medulloblastoma, T-ALL

TERC

AML

TERF2IP

Melanoma

TERT

MDS, MPN

TMEM127

Endocrine, Renal

TP53

Breast, Colorectal, Pancreatic, Prostate, Other

TRIM2B

Renal

TRIP13

Renal

TSC1

Renal

TSC2

Renal

VHL

Endocrine, Renal

WRN

Osteosarcoma

WT1

Brain, Renal

OncoAlly® Hereditary Hematologic Cancer Analysis

Abbreviations

ALL: Acute lymphoblastic leukemia, AML: Acute myeloid leukemia, B-ALL: B-cell acute lymphocytic leukemia, BCC: Basal cell carcinoma, CLL: Chronic lymphocytic leukemia, DBA: Diamond-Blackfan anemia, DLBCL: Diffuse large B-cell lymphoma, FA: Fanconi anemia, HL: Hodgkin lymphoma, JMML: Juvenile myelomonocytic leukemia, MCL: Mantle cell lymphoma, MDS: Myelodysplastic syndromes, MM: Multiple myeloma, MPN: Myeloproliferative neoplasms, NHL: Non-Hodgkin lymphoma, T-ALL: T-cell acute lymphocytic leukemia

Gene

Cancer Type

ANKRD26

AML, MDS

AP3B1

Leukemia, Lymphoma

ARID1A

MM

ATG2B

MPN

ATM

Lymphoma

BLM

ALL, Bloom syndrome, Lymphoma

BRCA1

DLBCL, Lymphoma, MCL

BRCA2

DLBCL, Lymphoma, MCL

BRIP1

Association by gene family (FA)

CARD11

CLL

CASP10

HL, NHL

CBL

JMML, Noonan syndrome

CD27

Lymphoma

CD40LG

Lymphoma

CEBPA

AML

CHEK2

CLL, DLBCL, MDS, MPN

CSF3R

AML, MDS

CTC1

MDS

CTLA4

ALL, Lymphoma, MM

CTR9

MPN

CXCR4

Lymphoma

DDX41

AML, MDS

DIS3

MM

DKC1

HL, MDS

ERCC6L2

AML, MPN

ERG

ALL, AML, MPN

ETV6

ALL

FANCA

AML

FANCB

Association by gene family (FA)

FANCC

AML

FANCD2

ALL, AML, MDS

FANCE

AML, MDS

FANCF

ALL

FANCG

AML, MDS

FANCI

AML, MDS

FANCL

AML, MDS

FAS (TNFRSF6)

HL, NHL

FASLG

HL, NHL

GATA1

AML, MDS

GATA2

AML, MDS

GFI1

AML

GSKIP

AML, MDS

IKZF1

ALL

JAK2

MPN

KDM1A

MM

KLHDC8B

Lymphoma

MAGT1

DLBCL

MBD4

AML

MECOM

MPN

MLH1

Leukemia, Lymphoma

MPIG6B

Myelofibrosis

MPL

AML, MDS

MSH2

Leukemia, Lymphoma

MSH6

Leukemia, Lymphoma

NAF1

MDS, MPN

NBN

NHL

NF1

JMML, MPN

NHP2

Leukemia, MDS

NOP10

MDS

NPAT

HL

PALB2

NHL

PARN

Leukemia, MDS

PAX5

B-ALL

PIK3CD

Lymphoma

PIK3R1

T-ALL

PMS2

Leukemia, Lymphoma

POT1

Leukemia, Lymphoma, MM

PTPN11

ALL, JMML

RAD51

Association by gene family (FA)

RAD51C

Association by gene family (FA)

RAF1

ALL, AML, Noonan syndrome

RBBP6

MPN

RIT1

ALL, Noonan syndrome

RPL11

Association by gene family (DBA)

RPL15

Association by gene family (DBA)

RPL23

Association by gene family (DBA)

RPL26

Association by gene family (DBA)

RPL27

Association by gene family (DBA)

RPL31

Association by gene family (DBA)

RPL35A

Association by gene family (DBA)

RPL5

Association by gene family (DBA)

RPS10

Association by gene family (DBA)

RPS17

Association by gene family (DBA)

RPS19

AML, DBA

RPS24

AML, DBA

RPS26

Association by gene family (DBA)

RPS27

Association by gene family (DBA)

RPS28

Association by gene family (DBA)

RPS29

Association by gene family (DBA)

RPS7

Association by gene family (DBA)

RTEL1

CLL, MDS

RUNX1

AML, MDS

SAMD9

AML, MDS

SAMD9L

AML, MDS

SBDS

AML

SH2B3

ALL

SH2D1A

Lymphoma

SHOC2

Lymphoma

SOS1

ALL

TERC

AML, MDS

TERT

AML, MDS

TET2

AML, MDS

TINF2

Lymphoma

TNFRSF13B

NHL

TNFRSF9

Lymphoma

TP53

Leukemia, Li-Fraumeni syndrome, Lymphoma

UNC13D

Lymphoma

USP45

MM

XPC

MDS, T-ALL

ZCCHC8

AML, MDS

Genomic Unity® Pediatric Hematologic Disorders Analysis

Abbreviations

ALL: Acute lymphoblastic leukemia, AML: Acute myeloid leukemia, ALPS: Autoimmune lymphoproliferative syndrome, B-ALL: B-cell acute lymphocytic leukemia, BMF: Bone marrow failure, DLBCL: Diffuse large B-cell lymphoma, FA: Fanconi anemia, HL: Hodgkin lymphoma, HLH: Hemophagocytic lymphohistiocytosis, JMML: Juvenile myelomonocytic leukemia, MCL: Mantle cell lymphoma, MDS: Myelodysplastic syndromes, MM: Multiple myeloma, MPN: Myeloproliferative neoplasms, NHL: Non-Hodgkin lymphoma, SCID: Severe combined immunodeficiency, SDS: Shwachman-Diamond syndrome, T-ALL: T-cell acute lymphocytic leukemia

Gene

Cancer Type

ACD

BMF

AK2

Reticular disgenesis, SCID

ALAS2

Congenital sideroblastic anemia

ANKRD26

AML, MDS

AP3B1

Leukemia, Lymphoma

ATG2B

AML, MPN

ATM

ALL, Lymphoma

BLM

ALL, Bloom syndrome, Lymphoma

BRCA1

DLBCL, Lymphoma, MCL

BRCA2

DLBCL, Lymphoma, MCL

BRIP1

Association by gene family (FA)

BTK

Bruton-type agammaglobulinemia

CARD11

Immunodeficiency

CARMIL2

Immunodeficiency

CASP10

HL, NHL

CASP8

ALPS type E

CBL

JMML, Noonan syndrome

CD27

Lymphoma

CD40LG

Lymphoma

CD70

B-cell lymphoma

CEBPA

AML

CLPB

MDS, Neutropenia

CSF3R

AML, MDS, Neutropenia

CHEK2

DLBCL, MDS, MPN

CTC1

MDS

CTLA4

ALL, Lymphoma, MM

CTPS1

SCID

CXCR4

Lymphoma

DKC1

HL, MDS

DNAJC21

SDS

DOCK8

Immunodeficiency

EFL1

AML, MDS, SDS

ELANE

AML, MDS, Neutropenia

ERCC6L2

AML, MPN

ERG

ALL, AML, MPN

ETV6

ALL

FADD

Immunodeficiency

FANCA

AML

FANCB

FA

FANCC

AML

FANCD2

ALL, AML, MDS

FANCE

AML, MDS

FANCF

AML

FANCG

AML, MDS

FANCI

AML, MDS

FANCL

AML, MDS

FAS (TNFRSF6)

HL, NHL

FASLG

HL, NHL

FCHO1

Immunodeficiency

G6PC3

AML, Severe congenital neutropenia

GATA1

AML, MDS

GATA2

AML, MDS

GFI1

AML

GSKIP

AML, MDS

HAX1

AML, MDS, Neutropenia

IKZF1

ALL

IL2RA

Immunodeficiency

IL2RB

Immunodeficiency

ITK

EBV-associated lymphoproliferative syndrome, Lymphoma

JAGN1

AML, MDS, Severe congenital neutropenia

JAK2

MPN

LIG4

DLBCL

LYST

Chediak-Higashi syndrome

LZTR1

Noonan syndrome, Schwannomatosis

MAGT1

DLBCL, Immunodeficiency

MBD4

AML

MCM4

Immunodeficiency

MECOM

BMF, Thrombocytopenia, MPN

MLH1

Leukemia, Lymphoma

MPIG6B

Myelofibrosis

MPL

AML, MDS

MSH2

Leukemia, Lymphoma

MSH6

Leukemia, Lymphoma

NBN

NHL

NF1

JMML, MPN

NHP2

Leukemia, MDS

NOP10

MDS

PALB2

NHL

PARN

Leukemia, MDS

PAX5

B-ALL

PGM3

Immunodeficiency

PIK3CD

Lymphoma

PIK3R1

T-ALL

PMS2

Leukemia, Lymphoma

PRF1

AML, HLH, MDS

PRKCD

B cell malignancies

PTPN11

ALL, JMML

RAB27A

HLH

RAC2

Immunodeficiency

RAD51

Association by gene family (FA)

RAD51C

Association by gene family (FA)

RAF1

ALL, AML, Noonan syndrome

RASGRP1

EBV-induced lymphoma

RBBP6

MPN

RHOH

Burkitt lymphoma

RIT1

ALL, Noonan syndrome

RMRP

HL, NHL

RPL11

Association by gene family (DBA)

RPL15

Association by gene family (DBA)

RPL23

Association by gene family (DBA)

RPL26

Association by gene family (DBA)

RPL27

Association by gene family (DBA)

RPL31

Association by gene family (DBA)

RPL35A

Association by gene family (DBA)

RPL5

Association by gene family (DBA)

RPS10

Association by gene family (DBA)

RPS17

Association by gene family (DBA)

RPS19

AML, DBA

RPS24

DBA, MDS

RPS26

Association by gene family (DBA)

RPS27

Association by gene family (DBA)

RPS28

Association by gene family (DBA)

RPS29

Association by gene family (DBA)

RPS7

Association by gene family (DBA)

RTEL1

MDS

RUNX1

AML, MDS

SAMD9

AML, MDS

SAMD9L

AML, MDS

SBDS

AML

SH2B3

ALL

SH2D1A

Lymphoma

SHOC2

Lymphoma

SLX4

FA

SMARCD2

Congenital neutropenia

SOS1

ALL, Noonan syndrome

SRP72

BMF

STAT3

Autoimmune disease

STK4

Immunodeficiency

STXBP2

HLH

TERC

AML, MDS

TERT

AML, MDS

THPO

Thromobocytopenia

TINF2

Lymphoma

TP53

Leukemia, Li-Fraumeni syndrome, Lymphoma

TPP2

Immunodeficiency

UBE2T

AML

VPS45

Neutropenia

WRAP53

Dyskeratosis congenita, Leukemia

XPC

MDS, T-ALL

ZNF341

Immunodeficiency