Molecular Factors Discussed |
Gene |
Gene Location |
Official Gene Symbol and Name |
Chapter Term Found |
ABCB11 |
2q24 |
ABCB11; ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
Biliary Tract/Liver/Pancreas |
ABF1 |
8q21 |
MSC; musculin |
Hodgkin Lymphoma |
AGL |
1p21 |
AGL; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
Biliary Tract/Liver/Pancreas |
AIP |
11q13.3 |
AIP; aryl hydrocarbon receptor interacting protein |
Pituitary; Pituitary Adenoma |
AKT1 |
14q32.32 |
AKT1; v-akt murine thymoma viral oncogene homolog 1 |
Meningioma; Neurofibromatosis Type 1; PTEN-Hamartoma Tumor Syndromes |
ALDH2 |
12q24.2 |
ALDH2; aldehyde dehydrogenase 2 family (mitochondrial) |
Esophageal Squamous Cell Carcinoma |
ALK |
2p23 |
ALK; anaplastic lymphoma receptor tyrosine kinase |
Bone and Soft Tissue; Diffuse Large B-Cell Lymphoma; Hereditary Neuroblastoma; Neuroblastoma |
ALX4 |
11p11.2 |
ALX4; ALX homeobox 4 |
Hereditary Multiple Exostosis |
AML1 |
21q22.3 |
RUNX1; runt-related transcription factor 1 |
Familial Acute Myeloid Leukemia |
APC |
5q21 |
APC; adenomatosis polyposis coli |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Astrocytoma; Biliary Tract/Liver/Pancreas; Bone and Soft Tissue; Central Nervous System; Colon Adenoma; Colon/Rectum; Esophagus; Familial Adenomatous Polyposis; Familial Nonmedullary Thyroid Carcinoma; Familial Thyroid Carcinoma; Gastrointestinal Stromal Tumor; Head and Neck; Hereditary Pancreatic Cancer Syndrome; Medulloblastoma/CNS-PNET; MYH-associated Polyposis; Pineoblastoma; Small Bowel Adenocarcinoma; Thyroid, Nonmedullary |
API2-MALT1 |
t(11;18)(q22;q21) |
BIRC3-MALT1 |
Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia |
ASIP |
20q11.2-q12 |
ASIP; agouti signaling protein |
Hereditary Multiple Melanoma |
ASK1 |
6q22.33 |
ASK1; MAP3K5;mitogen-activated protein kinase kinase kinase 5 |
Bone and Soft Tissue |
ASPL-TFE3 |
t(X;17)(p11.2;q25) |
ASPSCR1-TFE3 |
Bone and Soft Tissue |
ASS1 |
9q34.1 |
ASS1; argininosuccinate synthase 1 |
Biliary Tract/Liver/Pancreas |
ATG13 |
11p11.2 |
ATG13; autophagy related 13 |
Familial Plasma Cell Myeloma |
ATM |
11q22.3 |
ATM; ataxia telangiectasia mutated |
Ataxia-Telangiectasia; Breast; Breast Carcinoma, Female; Eye; Hereditary Pancreatic Cancer Syndrome; Melanoma; Melanoma/Pancreatic Carcinoma Syndrome; Salivary Glands |
ATP8B1 |
18q21.31 |
ATP8B1; ATPase, aminophospholipid transporter, class I, type 8B, member 1 |
Biliary Tract/Liver/Pancreas |
BACH1 |
21q22.11 |
BACH1; BTB and CNC homology 1, basic leucine zipper transcription factor 1 |
Breast; Breast Carcinoma, Female |
BAK1 |
6p21.3 |
BAK1; BCL2-antagonist/killer 1 |
Familial Testicular Tumor; Testicle |
BAP1 |
3p21.31-p21.2 |
BAP1; BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) |
Central Nervous System; Cutaneous Melanoma; Eye; Familial Uveal Melanoma; Hereditary Multiple Melanoma |
BARD1 |
2q34-q35 |
BARD1; BRCA1 associated RING domain 1 |
Breast; Breast Carcinoma, Female |
BAX |
19q13.3-q13.4 |
BAX; BCL2-associated X protein |
Basal Cell Carcinoma |
BCL10-IGH |
t(1;14)(p22;q32) |
Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia |
BCL2 |
18q21.3 |
BCL2; B-cell CLL/lymphoma 2 |
Colon Adenoma; Diffuse Large B-Cell Lymphoma; Familial Non-Hodgkin Lymphoma; Prostate Carcinoma |
BCL6 |
3q27 |
BCL6; B-cell CLL/lymphoma 6 |
Diffuse Large B-Cell Lymphoma; Follicular Lymphoma; Hodgkin Lymphoma |
BCR-ABL1 |
t(9;22)(q34;q11) |
|
Myeloid Neoplasms |
BHD |
17p11.2 |
FLCN; folliculin |
Hereditary Renal Epithelial Tumors, Others; Kidney |
BLM |
15q26.1 |
RECQL3; Bloom syndrome, RecQ helicase-like |
Bloom Syndrome; Colon/Rectum; Head and Neck; Myeloid Neoplasms; Squamous Cell Carcinoma, Head and Neck; Xeroderma Pigmentosum |
BMI1 |
10p11.23 |
BMI1; BMI1 polycomb ring finger oncogene |
Basal Cell Carcinoma |
BMPR1A |
10q22.3 |
BMPR1A; bone morphogenetic protein receptor, type IA |
Biliary Tract/Liver/Pancreas; Colon/Rectum; Esophagus; Juvenile Polyposis |
BOB1 |
3q11.2-q13.1 |
GPR15; G protein-coupled receptor 15 |
Hodgkin Lymphoma |
BRAF |
7q34 |
BRAF; v-raf murine sarcoma viral oncogene homolog B |
Astrocytoma; Colon Adenoma; Costello Syndrome; Cutaneous Melanoma; Familial Nonmedullary Thyroid Carcinoma; Familial Uveal Melanoma; Hereditary Multiple Melanoma; Lynch Syndrome |
BRCA1 |
17q21 |
BRCA1; breast cancer 1, early onset |
Biliary Tract/Liver/Pancreas; Breast; Breast Carcinoma, Female; Breast Carcinoma, Male; Fallopian Tube Carcinoma; Familial Uveal Melanoma; Gynecologic Neoplasms; Hereditary Breast/Ovarian Cancer Syndrome: BRCA1; Hereditary Breast/Ovarian Cancer Syndrome: BRCA2; Hereditary Multiple Melanoma; Hereditary Pancreatic Cancer Syndrome; Ovarian Carcinoma; Pancreatic Ductal Adenocarcinoma; Pathology of Familial Tumor Syndromes |
BRCA2 |
13q12.3 |
BRCA2; breast cancer 2, early onset |
Adenocarcinoma, Lung; Biliary Tract/Liver/Pancreas; Breast; Breast Carcinoma, Female; Breast Carcinoma, Male; Fallopian Tube Carcinoma; Gynecologic Neoplasms; Hereditary Breast/Ovarian Cancer Syndrome: BRCA1; Hereditary Breast/Ovarian Cancer Syndrome: BRCA2; Hereditary Multiple Melanoma; Hereditary Pancreatic Cancer Syndrome; Hereditary Prostate Cancer; Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome; Lung; Melanoma; Melanoma/Pancreatic Carcinoma Syndrome; Ovarian Carcinoma; Pancreatic Ductal Adenocarcinoma; Parathyroid Carcinoma; Pathology of Familial Tumor Syndromes; Prostate Carcinoma; Wilms Tumor-Associated Syndromes |
BRIP1 |
17q22.2 |
BRIP1; BRCA1 interacting protein C-terminal helicase 1 |
Breast; Breast Carcinoma, Female; Gynecologic Neoplasms; Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome; Ovarian Carcinoma |
CASR |
3q13.3-21 |
CASR; calcium-sensing receptor |
Familial Isolated Hyperparathyroidism; Parathyroid; Parathyroid Hyperplasia |
CBFA2 |
21q22.3 |
RUNX1; runt-related transcription factor 1 |
Familial Acute Myeloid Leukemia |
CBL |
11q23.3 |
CBL; Cas-Br-M (murine) ecotropic retroviral transforming sequence |
Myeloid Neoplasms |
CCNA1 |
13q12.3-q13 |
CCNA1; cyclin-A1 |
Pituitary |
CCND1 |
11q13 |
CCND1; cyclin-D1 |
Parathyroid Adenoma; Parathyroid Carcinoma; Parathyroid Hyperplasia; Pituitary; Plasma Cell Myeloma; Squamous Cell Carcinoma, Head and Neck |
CCND1-IGH |
t(11;14)(q13;q32) |
CCND1-IGH |
Mantle Cell Lymphoma |
CCND3 |
6p21 |
CCND3; cyclin D3 |
Plasma Cell Myeloma |
CD19 |
16p11.2 |
CD19; CD19 molecule |
Hodgkin Lymphoma |
CDC73/HRPT2 |
1q25 |
CDC73; cell division cycle 73 |
Familial Isolated Hyperparathyroidism; Hereditary Renal Epithelial Tumors, Others; Kidney |
CDH1 |
16q22.1 |
CDH1; cadherin 1, type 1 |
Breast; Breast Carcinoma, Female; Colon/Rectum; Esophagus; Gastric Adenocarcinoma; Hereditary Diffuse Gastric Cancer |
CDH11 |
16q21 |
CDH11; cadherin 11, type 2 |
Bone and Soft Tissue |
CDK4 |
12q14 |
CDK4; cyclin-dependent kinase 4 |
Bone and Soft Tissue; Hereditary Multiple Melanoma |
CDKN1B |
12p13.1-p12 |
CDKN1B; cyclin-dependent kinase inhibitor 1B |
Pituitary; Pituitary Adenoma; Prostate Carcinoma |
CDKN1C |
11p15.5 |
CDKN1C; cyclin-dependent kinase inhibitor 1C |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Beckwith-Wiedemann Syndrome; Kidney; Rhabdomyosarcoma; Wilms Tumor; Wilms Tumor-Associated Syndromes |
CDKN2A/P16 |
9p21 |
CDKN2A; cyclin-dependent kinase inhibitor 2A |
Astrocytoma; Biliary Tract/Liver/Pancreas; Central Nervous System; Cutaneous Melanoma; Cutaneous Melanoma; Familial Plasma Cell Myeloma; Familial Uveal Melanoma; Follicular Lymphoma; Hereditary Multiple Melanoma; Hereditary Pancreatic Cancer Syndrome; Melanoma/Pancreatic Carcinoma Syndrome; Neurofibromatosis Type 1; Pancreatic Endocrine Tumor; Squamous Cell Carcinoma, Head and Neck |
CEBPA |
19q13.1 |
CEBPA; CCAAT/enhancer binding protein (C/EBP), alpha |
Familial Acute Myeloid Leukemia; Myeloid Neoplasms |
CFTR |
7q31.2 |
CFTR; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Biliary Tract/Liver/Pancreas; Hereditary Pancreatic Cancer Syndrome |
CHEK1 |
11q24.2 |
CHEK1; checkpoint kinase 1 |
Breast Carcinoma, Female |
CHEK2 |
22q12.1 |
CHEK2; checkpoint kinase 2 |
Biliary Tract/Liver/Pancreas; Breast; Breast Carcinoma, Female; Breast Carcinoma, Male; Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome; Prostate Carcinoma |
CLTC-ALK |
t(2;17)(p23;q23) |
CLTC-ALK |
Bone and Soft Tissue |
COL12A1 |
6q12-q13 |
COL12A1; collagen, type XII, alpha 1 |
Bone and Soft Tissue |
COL1A1-PDGFB |
t(17;22)(q21;q13) |
COL1A1-PDGFB |
Bone and Soft Tissue |
COL4A5 |
Xq22 |
COL4A5; collagen, type IV, alpha 5 |
Bone and Soft Tissue |
COL6A3-CSF1 |
t(1;2)(p13;q37) |
COL6A3-CSF1 |
Bone and Soft Tissue |
CRAC1 |
15q13-q21 |
CRAC1; colorectal adenoma and carcinoma 1 |
Colon/Rectum |
CTC1 |
17p13 |
CTC1; CTS telomere maintenance complex component 1 |
Dyskeratosis Congenita |
CTCL |
Xp11.2 |
TSPYL2; TSPY-like 2 |
Diffuse Large B-Cell Lymphoma |
CTNNB1 |
3p21 |
CTNNB1; catenin (cadherin-associated protein), beta 1 |
Bone and Soft Tissue; Wilms Tumor |
CXORF5 |
Xp22 |
OFD1; oral-facial-digital syndrome 1 |
Beckwith-Wiedemann Syndrome |
CYLD |
16q12.1 |
CYLD; cylindromatosis (turban tumor syndrome) |
Birt-Hogg-Dubé Syndrome; Salivary Glands |
CYP21 |
6p21.3 |
CYP21A2; cytochrome P450, family 21, subfamily A, polypeptide 2 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children |
DICER1 |
14q32.13 |
DICER1; dicer 1, ribonuclease type III |
Central Nervous System; Clinical Diagnosis and Management of Familial; Eye; Lung; Pineoblastoma; Pleuropulmonary Blastoma |
DIRC1 |
2q33 |
DIRC1; disrupted in renal carcinoma 1 |
Hereditary Renal Epithelial Tumors, Others; Kidney |
DIRC2 |
2q33 |
DIRC2; disrupted in renal carcinoma 1 |
Hereditary Renal Epithelial Tumors, Others; Kidney; |
DIRC3 |
2q35 |
DIRC3; disrupted in renal carcinoma 3 |
Hereditary Renal Epithelial Tumors, Others; Kidney |
DIS3L2 |
2q37.1 |
DIS3L2; DIS3 mitotic control homolog (S. cerevisiae)-like |
Beckwith-Wiedemann Syndrome |
DKC1 |
Xq28 |
DKC1; dyskeratosis congenita 1, dyskerin |
Blood and Bone Marrow; Dyskeratosis Congenita; Head and Neck; Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer; Squamous Cell Carcinoma, Head and Neck |
DND1 |
5q31.3 |
DND1; DND microRNA-mediated repression inhibitor 1 |
Familial Testicular Tumor |
DOG1 |
11q13.3 |
ANO1; anoctamin 1, calcium activated chloride channel |
Gastrointestinal Stromal Tumor |
EBF1 |
5q34 |
EBF1; early B-cell factor 1 |
Hodgkin Lymphoma |
EGFR |
7p12 |
EGFR; epidermal growth factor receptor |
Adenocarcinoma, Lung; Neurofibromatosis Type 1; Pituitary; Squamous Cell Carcinoma, Head and Neck |
EGLN1/PHD2 |
1q42.1 |
EGLN1; egl-9 family hypoxia-inducible factor 1 |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma |
ELAC2 |
17p11.2 |
ELAC2; elaC ribonuclease Z 2 |
Hereditary Prostate Cancer; Prostate Carcinoma |
ELANE |
19p13.3 |
ELANE; elastase, neutrophil expressed |
Blood and Bone Marrow |
ENG |
9q34.11 |
ENG; endoglin |
Biliary Tract/Liver/Pancreas; Colon/Rectum; Esophagus; Juvenile Polyposis; |
EPCAM |
2p21 |
EPCAM; epithelial cell adhesion molecule |
Endometrial Carcinoma; Lynch Syndrome ; |
ERCC6 |
10q11.23 |
ERCC6; excision repair cross-complementing rodent repair deficiency, complementation group 6 |
Werner Syndrome/Progeria; Xeroderma Pigmentosum |
ERCC8 |
5q12.1 |
ERCC8; excision repair cross-complementing rodent repair deficiency, complementation group 8 |
Werner Syndrome/Progeria; Xeroderma Pigmentosum |
ERG |
21q22.3 |
ERG; v-ets erythroblastosis virus E26 oncogene homolog |
Prostate Carcinoma |
ETS |
11q23.3 |
ETS; v-ets avian erythroblastosis virus E26 oncogene homolog 1 |
Prostate Carcinoma |
ETV1 |
7p21.3 |
ETV1; ets variant 1 |
Prostate Carcinoma |
ETV4 |
17q21 |
ETV4; ets variant 4 |
Prostate Carcinoma |
ETV5 |
3q28 |
ETV5; ets variant 5 |
Prostate Carcinoma |
ETV6-NTRK3 |
t(12;15)(p13;q25) |
ETV6-NTRK3 |
Bone and Soft Tissue; Salivary Glands |
EWSR1/EWS |
22q12 |
EWSR1; EWS RNA-binding protein 1 |
Osteosarcoma |
EWSR1-ATF1/EWS-ATF1 |
t(12;22)(q13;q12) |
EWSR1-ATF1 |
Bone and Soft Tissue; Gastrointestinal Stromal Tumor; Malignant Peripheral Nerve Sheath Tumor |
EWSR1-CREB1/EWS-CREB1 |
t(2;22)(q34;q12) |
EWSR1-CREB1 |
Bone and Soft Tissue; Gastrointestinal Stromal Tumor; Malignant Peripheral Nerve Sheath Tumor |
EWSR1-DDIT3/EWS-CHOP |
t(12;22)(q13;q12) |
EWSR1-DDIT3 |
Bone and Soft Tissue |
EWSR1-E1AF |
t(17;22)(q21;q12) |
EWSR1-ETV4 |
Bone and Soft Tissue |
EWSR1-ERG |
t(21;22)(q22;q12) |
EWSR1-ERG |
Bone and Soft Tissue; Malignant Peripheral Nerve Sheath Tumor |
EWSR1-ETV1 |
t(7;22)(p21.3;q12) |
EWSR1-ETV1 |
Bone and Soft Tissue |
EWSR1-FEV |
t(2;22)(q36;q12) |
EWSR1-FEV |
Bone and Soft Tissue |
EWSR1-FLI1 |
t(11;22)(q24;q12) |
EWSR1-FLI1 |
Bone and Soft Tissue; Malignant Peripheral Nerve Sheath Tumor; Neuroblastoma; Rhabdomyosarcoma |
EWSR1-NR4A3 |
t(9;22)(q22;q12) |
EWSR1-NR4A3 |
Bone and Soft Tissue |
EWSR1-PBX1 |
(1;22)(q23;q12) |
EWSR1-PBX1 |
Bone and Soft Tissue |
EWSR1-WT1 |
t(11;22)(p13;q12) |
EWSR1-WT1 |
Bone and Soft Tissue |
EWSR1-ZNF444 |
t(19;22)(q13;q12) |
EWSR1-ZNF444 |
Bone and Soft Tissue |
EWSR1-ZSG |
t(22;22)(q12;q12) |
EWSR1-PATZ1 |
Bone and Soft Tissue |
EXT1 |
8q24.11 |
EXT1; exostosin 1 |
Bone and Soft Tissue; Hereditary Multiple Exostosis |
EXT2 |
11p12-p11 |
EXT2; exostosin 2 |
Hereditary Multiple Exostosis |
EXT3 |
19p |
EXT3; exostoses (multiple) 3 |
Hereditary Multiple Exostosis; |
FAH |
15q25.1 |
FAH; fumarylacetoacetate hydrolase (fumarylacetoacetase) |
Biliary Tract/Liver/Pancreas |
FAM129A |
1q25 |
FAM129A; family with sequence similarity 129, member |
Pineoblastoma |
FANCA |
16q24.3 |
FANCA; Fanconi anemia, complementation group A |
Blood and Bone Marrow; Fanconi Anemia |
FANCB |
Xp22.2 |
FANCB; Fanconi anemia, complementation group B |
Fanconi Anemia |
FANCC |
9q22.3 |
FANCC; Fanconi anemia, complementation group C |
Fanconi Anemia |
FANCD1 |
13q12.3 |
BRCA2; breast cancer 2, early onset |
Fanconi Anemia |
FANCD2 |
3p26 |
FANCD2; Fanconi anemia, complementation group D2 |
Fanconi Anemia |
FANCE |
6p22-p21 |
FANCE; Fanconi anemia, complementation group E |
Fanconi Anemia |
FANCF |
11p15 |
FANCF; Fanconi anemia, complementation group F |
Fanconi Anemia |
FANCG |
9p13 |
FANCG; Fanconi anemia, complementation group G |
Fanconi Anemia |
FANCI |
15q26.1 |
FANCI; Fanconi anemia, complementation group I |
Fanconi Anemia |
FANCJ |
17q22.2 |
BRIP1; BRCA1 interacting protein C-terminal helicase 1 |
Breast; Breast Carcinoma, Female; Fanconi Anemia |
FANCL |
2p16.1 |
FANCL; Fanconi anemia, complementation group L |
Fanconi Anemia |
FANCM |
14q21.2 |
FANCM; Fanconi anemia, complementation group M |
Fanconi Anemia |
FANCN |
16p12.2 |
PALB2; partner and localizer of BRCA2 |
Breast; Fanconi Anemia |
FANCx |
multiple |
Fanconi anemia, complementation groups |
Head and Neck; Squamous Cell Carcinoma, Head and Neck |
FAP |
2q23 |
FAP; fibroblast activation protein, alpha |
Esophagus |
FBXW7 |
4q31.3 |
FBXW7; F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase |
Hereditary Renal Epithelial Tumors, Others; Kidney |
FGFR2 |
10q26 |
FGFR2; fibroblast growth factor receptor 2 |
Pituitary |
FGFR3 |
4p16.3 |
FGFR3; fibroblast growth factor receptor 3 |
Bladder Carcinoma; Plasma Cell Myeloma |
FH |
1q42.1 |
FH; fumarate hydratase |
Gynecologic Neoplasms; Hereditary Leiomyomatosis and Renal Cell Carcinoma/Reed Syndrome; Hereditary Renal Epithelial Tumors, Others; Kidney |
FHIT |
3p14.2 |
FHIT; fragile histidine triad |
Hereditary Renal Epithelial Tumors, Others; Kidney; Squamous Cell Carcinoma, Head and Neck |
FKHR |
13q14.1 |
FOXO1; forkhead box O1 |
Bone and Soft Tissue |
FLCN |
17p11.2 |
FLCN; folliculin |
Birt-Hogg-Dubé Syndrome; Hereditary Renal Epithelial Tumors, Others; Kidney; Renal Oncocytoma, Chromophobe, and Hybrid Oncocytic Tumors |
FLT3 |
13q12 |
FLT3; fms-like tyrosine kinase 3 |
Myeloid Neoplasms |
FNIP1 |
5q23.3 |
FNIP1; folliculin interacting protein 1 |
Birt-Hogg-Dubé Syndrome |
FUS-ATF1 |
t(12;16)(q13;p11.2) |
FUS-ATF1 |
Bone and Soft Tissue |
FUS-CREB3L1 |
t(11;16)(p11.2;p11.2) |
FUS-CREB3L1 |
Bone and Soft Tissue |
FUS-CREB3L2 |
t(7;16)(q34;p11.2) |
FUS-CREB3L2 |
Bone and Soft Tissue |
FUS-DDIT3 |
t(12;16)(q13;p11.2) |
FUS-DDIT3 |
Bone and Soft Tissue |
FUS-ERG |
t(16;21)(p11.2;q22.3) |
FUS-ERG |
Bone and Soft Tissue |
FWT1 |
17q12-q21 |
WT4; Wilms tumor 4 |
Familial Wilms Tumor; Kidney; Wilms Tumor |
G6PC |
17q21 |
G6PC; glucose-6-phosphatase, catalytic subunit |
Biliary Tract/Liver/Pancreas |
GATA2 |
3q21.3 |
GATA2; GATA binding protein 2 |
Familial Acute Myeloid Leukemia |
GATA3 |
10p15 |
GATA3; GATA binding protein 3 |
Familial Hodgkin Lymphoma |
GJB6 |
13q12 |
GJB6; gap junction protein, beta 6, 30kDa |
Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer |
GLI2 |
2q14 |
GLI2; GLI family zinc finger 2 |
Medulloblastoma/CNS-PNET |
GNA11 |
19p13.3 |
GNA11; guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
Familial Uveal Melanoma |
GNAQ |
9q21 |
GNAQ; guanine nucleotide binding protein (G protein), q polypeptide |
Familial Uveal Melanoma |
GNAS/GNAS1 |
20q13.3 |
GNAS; GNAS complex locus |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Carney Complex Including LAMB Syndrome; Follicular Carcinoma; Neurofibromatosis Type 1; Pituitary; Pituitary Adenoma |
GPC3 |
Xq26.1 |
GPC3; Glypican 3 |
Beckwith-Wiedemann Syndrome; Kidney; Wilms Tumor; Wilms Tumor-Associated Syndromes; |
gr/gr |
Yq11.2 |
genetic linkage region (no specific gene identified) |
Familial Testicular Tumor |
GSTM1 |
1p13.3 |
GSTM1; glutathione S-transferase mu 1 |
Hereditary Multiple Melanoma |
GSTP1 |
11q13 |
GSTP1; glutathione S-transferase pi 1 |
Prostate Carcinoma |
H19 |
11p15.5 |
H19; imprinted maternally expressed transcript (non-protein coding) |
Adrenal Cortical Carcinoma; Adrenal Cortical Neoplasms in Children; Beckwith-Wiedemann Syndrome; Kidney; Wilms Tumor; Wilms Tumor-Associated Syndromes |
HAX1 |
1q21.3 |
HAX1; HCLS1 associated protein X-1 |
Blood and Bone Marrow |
HER2 |
17q12 |
ERBB2; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 |
Breast Carcinoma, Female |
HFE |
6p21.3 |
HFE; hemochromatosis |
Biliary Tract/Liver/Pancreas |
HLA-DRA |
6p21.3 |
HLA-DRA; major histocompatibility complex, class II, DR alpha |
Familial Hodgkin Lymphoma |
HMGA2/HMGIC |
12q15 |
HMGIC; high mobility group AT-hook 2 |
Bone and Soft Tissue; Salivary Glands |
HMGA2-LPP |
t(3;12)(q28;q15) |
HMGIC-LPP |
Bone and Soft Tissue |
HPD |
12q24.31 |
HPD; 4-hydroxyphenylpyruvate dioxygenase |
Biliary Tract/Liver/Pancreas |
HRAS |
11p15.5 |
HRAS; v-Ha-ras Harvey rat sarcoma viral oncogene homolog |
Bladder Carcinoma; Costello Syndrome; Familial Nonmedullary Thyroid Carcinoma; Pituitary Carcinoma |
HRPT2 |
1q25 |
CDC73; cell division cycle 73 |
Head and Neck; Hereditary Hyperparathyroidism-Jaw Tumor Syndrome; Hereditary Renal Epithelial Tumors, Others; Kidney; Parathyroid; Parathyroid Adenoma; Parathyroid Carcinoma; Parathyroid Hyperplasia |
HSPBAP1 |
3q21.1 |
HSPBAP1; HSPB (heat shock 27kDa) associated protein 1 |
Hereditary Renal Epithelial Tumors, Others; Kidney; |
ID2 |
2p25 |
ID2; inhibitor of DNA binding 2, dominant negative helix-loop-helix protein |
Hodgkin Lymphoma |
IDH1 |
2q33.3 |
IDH1; isocitrate dehydrogenase 1 (NADP+), soluble |
Astrocytoma; Chondrosarcoma; Medulloblastoma/CNS-PNET; Osteosarcoma |
IDH2 |
15q26.1 |
IDH2; isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Chondrosarcoma; Osteosarcoma |
IGF2 |
11p15.5 |
IGF2; insulin-like growth factor 2 |
Adrenal Cortical Carcinoma; Adrenal Cortical Neoplasms in Children; Beckwith-Wiedemann Syndrome; Kidney; Rhabdomyosarcoma; Wilms Tumor; Wilms Tumor-Associated Syndromes |
IGH |
14q32.33 |
IGH; immunoglobulin heavy locus |
Chronic Lymphocytic Leukemia; Plasma Cell Myeloma; Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia |
IGH-BCL2 |
t(14;18)(q32;q21) |
IGH-BCL2 |
Follicular Lymphoma |
IGH-BCL6 |
t(3;14)(q27;q32) |
IGH-BCL6 |
Hodgkin Lymphoma |
IGH-MALT1 |
t(14;18)(q32;q21) |
IGH-MALT1 |
Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia |
IL10 |
1q31-q32 |
IL10; interleukin 10 |
Familial Non-Hodgkin Lymphoma |
INK4A |
9p21 |
CDKN2A; cyclin-dependent kinase inhibitor 2A |
Bone and Soft Tissue; Malignant Peripheral Nerve Sheath Tumor |
JAG1 |
20p12.1-p11.23 |
JAG1; jagged 1 |
Biliary Tract/Liver/Pancreas |
JAK2 |
9p24 |
JAK2; Janus kinase 2 |
Myeloid Neoplasms |
JAZF1-JJAZ1 |
t(7;17)(p15;q11) |
JAZF1-JJAZ1 |
Bone and Soft Tissue |
JAZF1-PHF1 |
t(6;7)(p21;p15) |
JAZF1-PHF1 |
Bone and Soft Tissue |
JUN |
1p32-p31 |
JUN; jun proto-oncogene |
Bone and Soft Tissue |
KCNIP4 |
4p15.32 |
KCNIP4; Kv channel interacting protein 4 |
Hereditary Renal Epithelial Tumors, Others; Kidney; |
KCNQ1 |
11p15.5 |
KCNQ1; potassium voltage-gated channel, KQT-like subfamily, member 1 |
Adrenal Cortical Neoplasms in Children; Beckwith-Wiedemann Syndrome |
KCNQ1OT1/LIT1 |
11p15 |
KCNQ1OT1; KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) |
Adrenal Cortical Neoplasms in Children; Beckwith-Wiedemann Syndrome; Kidney; Wilms Tumor; Wilms Tumor-Associated Syndromes; |
KIF1B |
1p36.2 |
kinesin family member 1B |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pheochromocytoma/Paraganglioma |
KIT |
4q11-q12 |
KIF1B; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
Bone and Soft Tissue; Esophagus; Familial Gastrointestinal Stromal Tumor; Familial Testicular Tumor; Gastrointestinal Stromal Tumor; Myeloid Neoplasms; Neurofibromatosis Type 1; Prostate Carcinoma |
KITLG |
12q22 |
KITLG; KIT ligand |
Familial Testicular Tumor; Testicle |
KLF4 |
9q31 |
KLF4; Kruppel-like factor 4 (gut) |
Meningioma |
KLF6 |
10p15 |
KLF6; Kruppel-like factor 6 |
Prostate Carcinoma |
KLHDC8B |
3p21.31 |
KLHDC8B; kelch domain containing 8B |
Familial Hodgkin Lymphoma |
KLLN |
10q23 |
KLLN; killin, p53-regulated DNA replication inhibitor |
PTEN-Hamartoma Tumor Syndromes |
KRAS |
12p12.1 |
KRAS; v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog |
Astrocytoma; Central Nervous System; Colon Adenoma; Costello Syndrome; Familial Nonmedullary Thyroid Carcinoma; Myeloid Neoplasms; MYH-associated Polyposis; Neurofibromatosis Type 1; Pancreatic Endocrine Tumor; Plasma Cell Myeloma |
KRT16 |
17q21.2 |
KRT16; keratin 16 |
Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer |
KRT17 |
17q21.2 |
KRT17; keratin 17 |
Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer |
KRT6 |
12q13.13 |
KRT72; keratin 72 |
Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer |
LIN28 |
1p36.11 |
LIN28; lin-28 homolog A |
Medulloblastoma/CNS-PNET |
LMNA |
1q22 |
LMNA; lamin A/C |
Werner Syndrome/Progeria |
LSAMP |
3q13.2-q21 |
LSAMP; limbic system-associated membrane protein |
Hereditary Renal Epithelial Tumors, Others; Kidney; |
MAF |
16q22-q23 |
MAF; v-maf musculoaponeurotic fibrosarcoma oncogene homolog |
Plasma Cell Myeloma |
MAFB |
20q11.2-q13.1 |
MAFB; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B |
Plasma Cell Myeloma |
MAX |
14q23 |
MAX; MYC associated factor X |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pathology of Familial Tumor Syndromes; Pheochromocytoma/Paraganglioma |
MC1R |
16q24.3 |
MC1R; melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) |
Cutaneous Melanoma; Hereditary Multiple Melanoma |
MCUL1 |
1q42.1 |
FH; fumarate hydratase |
Bone and Soft Tissue |
MDM2 |
12q15 |
MDM2; MDM2 oncogene, p53 E3 ubiquitin protein ligase homolog |
Bone and Soft Tissue; Hereditary Retinoblastoma |
MDM4 |
1q32 |
MDM4; Mdm4 p53 binding protein homolog |
Hereditary Retinoblastoma |
MDR1 |
7q21.12 |
ABCB1; ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
Adrenal Cortical Carcinoma |
MDR3 |
7q21.1 |
ABCB4; ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
Biliary Tract/Liver/Pancreas |
MECT1 |
19p13 |
MECT1; mucoepidermoid carcinoma translocated 1 |
Salivary Glands |
MECT1-MAML2 |
t(11;19)(q21-22;p13) |
|
Salivary Glands |
MEK1 |
15q22.1-q22.33 |
MAP2K1; mitogen-activated protein kinase kinase 1 |
Costello Syndrome; Familial Nonmedullary Thyroid Carcinoma |
MEK2 |
19p13.3 |
MEK2; mitogen-activated protein kinase kinase 2 |
Costello Syndrome; Familial Nonmedullary Thyroid Carcinoma; |
MEN1 |
11q13 |
MEN1; multiple endocrine neoplasia I |
Adrenal Cortex; Adrenal Cortical Carcinoma; Adrenal Cortical Neoplasms in Children; Biliary Tract/Liver/Pancreas; Familial Isolated Hyperparathyroidism; Hereditary Pancreatic Cancer Syndrome; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Hereditary Renal Epithelial Tumors, Others; Multiple Endocrine Neoplasia Type 1; Pancreas; Pancreatic Endocrine Tumor; Parathyroid; Parathyroid Adenoma; Parathyroid Carcinoma; Parathyroid Hyperplasia; Pituitary; Pituitary Adenoma |
MET |
7q31 |
MET; met proto-oncogene (hepatocyte growth factor receptor) |
Familial Nonmedullary Thyroid Carcinoma; Hereditary Papillary Renal Cell Carcinoma; Hereditary Renal Epithelial Tumors, Others; Kidney; Papillary Renal Cell Carcinoma |
MICB |
6p21.3 |
MICB; MHC class I polypeptide-related sequence B |
Familial Hodgkin Lymphoma |
MLH1 |
3p21.3 |
MLH1; mutL homolog 1 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Astrocytoma; Biliary Tract/Liver/Pancreas; Central Nervous System; Colon/Rectum; Endometrial Carcinoma; Esophagus; Eye; Gynecologic Neoplasms; Hereditary Pancreatic Cancer Syndrome; Lynch Syndrome ; Ovarian Carcinoma; Renal Urothelial Carcinoma; Sebaceous Carcinoma |
MMSET |
4p16.3 |
WHSC1; Wolf-Hirschhorn syndrome candidate 1 |
Plasma Cell Myeloma |
MPL |
1p34 |
MPL; myeloproliferative leukemia virus oncogene |
Blood and Bone Marrow |
MRE11A |
11q21 |
MRE11A; MRE11 meiotic recombination 11 homolog A |
Ataxia-Telangiectasia; Breast; Breast Carcinoma, Female; Gynecologic Neoplasms |
MSH2 |
2p21 |
MSH2; mutS homolog 2 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Astrocytoma; Biliary Tract/Liver/Pancreas; Central Nervous System; Colon/Rectum; Endometrial Carcinoma; Esophagus; Eye; Gynecologic Neoplasms; Hereditary Pancreatic Cancer Syndrome; Lynch Syndrome ; Ovarian Carcinoma; Renal Urothelial Carcinoma; Sebaceous Carcinoma; Ureter Urothelial Carcinoma |
MSH6 |
2p16 |
MSH6; mutS homolog 6 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Astrocytoma; Biliary Tract/Liver/Pancreas; Central Nervous System; Colon/Rectum; Endometrial Carcinoma; Esophagus; Gynecologic Neoplasms; Hereditary Pancreatic Cancer Syndrome; Lynch Syndrome ; Ovarian Carcinoma; Renal Urothelial Carcinoma; Sebaceous Carcinoma |
MSR1 |
8p22 |
MSR1; macrophage scavenger receptor 1 |
Prostate Carcinoma |
MUTYH/MYH |
1p34.1 |
MUTYH; mutY homolog |
Breast; Breast Carcinoma, Female; Biliary Tract/Liver/Pancreas; Colon/Rectum; Esophagus; Familial Adenomatous Polyposis; Hereditary Pancreatic Cancer Syndrome; MYH-associated Polyposis; Pathology of Familial Tumor Syndromes |
MYB-NFIB |
t(6;9)(q22-23;p24) |
MYB-NFIB |
Salivary Glands |
MYC |
8q24 |
MYC; v-myc myelocytomatosis viral oncogene homolog |
Adrenal Cortical Carcinoma; Diffuse Large B-Cell Lymphoma; Follicular Lymphoma; Hereditary Hyperparathyroidism-Jaw Tumor Syndrome; Hodgkin Lymphoma; Medulloblastoma/CNS-PNET; Prostate Carcinoma |
MYCN |
2p24.3 |
MYCN; v-myc myelocytomatosis viral related oncogene, neuroblastoma derived |
Hereditary Neuroblastoma; Neuroblastoma; Wilms Tumor |
MYD88 |
3p22 |
MYD88; myeloid differentiation primary response 88 |
Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia |
NBN/NBS1 |
8q21 |
NBN; nibrin |
Breast; Breast Carcinoma, Female; Gynecologic Neoplasms; Ataxia-Telangiectasia; Prostate Carcinoma |
NDP |
Xp11.4 |
NDP; Norrie disease (pseudoglioma) |
Eye |
NF1 |
17q11.2 |
NF1; neurofibromin 1 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Adrenal Medulla; Astrocytoma; Bone and Soft Tissue; Central Nervous System; Clinical Diagnosis and Management of Familial; Esophagus; Eye; Familial Gastrointestinal Stromal Tumor; Gastrointestinal Stromal Tumor; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Malignant Peripheral Nerve Sheath Tumor; Myeloid Neoplasms; Neurofibromatosis Type 1; Pancreas; Pancreatic Endocrine Tumor; Paraganglioma; Peripheral Nervous System; Pheochromocytoma/Paraganglioma; Schwannoma |
NF2 |
22q12.2 |
NF2; neurofibromin 2 |
Astrocytoma; Bone and Soft Tissue; Central Nervous System; Clinical Diagnosis and Management of Familial; Ependymoma; Eye; Head and Neck; Meningioma; Neurofibromatosis Type 1; Neurofibromatosis Type 2; Peripheral Nervous System; Schwannoma; Schwannomatosis |
NHP2 |
5q35.3 |
NHP2; NHP2 ribonucleoprotein |
Dyskeratosis Congenita |
NKX3-1 |
8p21.2 |
NKX3-1; NK3 homeobox 1 |
Prostate Carcinoma |
NMTC1 |
2q21 |
NMTC1; Nonmedullary thyroid carcinoma 1 |
Familial Nonmedullary Thyroid Carcinoma |
NOLA2 |
5q35.3 |
NHP2; NHP2 ribonucleoprotein |
Dyskeratosis Congenita |
NOLA3 |
15q14-q15 |
NOP10; NOP10 ribonucleoprotein |
Dyskeratosis Congenita |
NORE1 |
1q32.1 |
RASSF5; Ras association (RalGDS/AF-6) domain family member 5 |
Hereditary Renal Epithelial Tumors, Others; Kidney |
NOTCH1 |
9q34.3 |
NOTCH1; notch 1 |
Chronic Lymphocytic Leukemia; Hodgkin Lymphoma |
NOTCH2 |
1p13-p11 |
NOTCH2; notch 2 |
Biliary Tract/Liver/Pancreas |
NPAT |
11q22-q23 |
NPAT; nuclear protein, ataxia-telangiectasia locus |
Familial Hodgkin Lymphoma; Hodgkin Lymphoma; |
NPM |
5q35 |
NPM; nucleophosmin |
Diffuse Large B-Cell Lymphoma |
NRAS |
1p13.2 |
NRAS; neuroblastoma RAS viral (v-ras) oncogene homolog |
Costello Syndrome; Cutaneous Melanoma; Familial Nonmedullary Thyroid Carcinoma; Hereditary Renal Epithelial Tumors, Others; Kidney; Myeloid Neoplasms; Neurofibromatosis Type 1; Plasma Cell Myeloma |
NSD1 |
5q35 |
NSD1; nuclear receptor binding SET domain protein 1 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Beckwith-Wiedemann Syndrome |
NTRK1 |
1q22 |
NTRK1; neurotrophic tyrosine kinase, receptor, type 1 |
Hereditary Renal Epithelial Tumors, Others; Kidney |
NTRK3-ETV6 |
t(12;15)(p13;q25) |
|
Rhabdomyosarcoma |
NUT |
15q14 |
NUTM1; NUT midline carcinoma, family member 1 |
Squamous Cell Carcinoma, Head and Neck |
OCA2 |
15q |
OCA2; oculocutaneous albinism II |
Hereditary Multiple Melanoma |
OCT2 |
6q25.3 |
SLC22A2; solute carrier family 22 (organic cation transporter), member 2 |
Hodgkin Lymphoma |
OLIG2 |
21q22.11 |
OLIG2; oligodendrocyte lineage transcription factor 2 |
Medulloblastoma/CNS-PNET |
OR4C12 |
11p11.12 |
OR4C12; olfactory receptor, family 4, subfamily C, member 12 |
Pineoblastoma |
P14/ARF |
9p21 |
CDKN2A; cyclin-dependent kinase inhibitor 2A |
Astrocytoma |
P15 |
9p21 |
CDKN2B; cyclin-dependent kinase inhibitor 2B |
Follicular Lymphoma |
P57KIP2 |
11p15.5 |
CDKN1C; cyclin-dependent kinase inhibitor 1C |
Adrenal Cortical Carcinoma |
PALB2 |
16p12.2 |
PALB2; partner and localizer of BRCA2 |
Biliary Tract/Liver/Pancreas; Breast; Breast Carcinoma, Female; Hereditary Pancreatic Cancer Syndrome; Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome; Melanoma; Melanoma/Pancreatic Carcinoma Syndrome |
PAX1-FOXO1 |
t(13;20)(q14;p11) |
PAX1-FOXO1 |
Rhabdomyosarcoma |
PAX3 |
2q35 |
PAX3; paired box 3 |
Bone and Soft Tissue |
PAX3/7-FOXO1 |
t(2;13)(q35;q14) or t(1;13)(p36;q14) |
PAX3-FOXO1; PAX7-FOXO1 |
Rhabdomyosarcoma |
PAX3-FOXO1/PAX3-FKHR |
t(2;13)(q35;q14) |
PAX3-FOXO1 |
Bone and Soft Tissue; Rhabdomyosarcoma |
PAX5 |
9p13 |
PAX5; paired box 5 |
Hodgkin Lymphoma |
PAX6 |
11p13 |
PAX6; paired box 6 |
Wilms Tumor; Wilms Tumor-Associated Syndromes |
PAX7-FOXO1/PAX7-FKHR |
t(1;13)(p36;q14) |
PAX7-FOXO1 |
Bone and Soft Tissue |
PBRM1 |
3p21 |
PBRM1; polybromo 1 |
Clear Cell Renal Cell Carcinoma |
PCDHGA3 |
5q31 |
PCDHGA3; protocadherin gamma subfamily A, 3 |
Pineoblastoma |
PCTA-1 |
1q43 |
LGALS8; lectin, galactoside-binding, soluble, 8 |
Hereditary Prostate Cancer |
PDE11A |
2q31-2q35 |
PDE11A; phosphodiesterase 11A |
Familial Testicular Tumor; Primary Pigmented Nodular Adrenocortical Disease; |
PDE8B |
5q13.3 |
PDE8B; phosphodiesterase 8B |
Primary Pigmented Nodular Adrenocortical Disease |
PDGFRA |
4q12 |
PDGFRA; platelet-derived growth factor receptor, alpha polypeptide |
Esophagus; Familial Gastrointestinal Stromal Tumor; Gastrointestinal Stromal Tumor |
PDS |
7q31 |
SLC26A4; solute carrier family 26 (anion exchanger), member 4 |
Familial Thyroid Carcinoma |
PHD2 |
1q42.1 |
EGLN1; egl-9 family hypoxia-inducible factor 1 |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma |
PHOX2B |
4p12 |
PHOX2B; paired-like homeobox 2b |
Hereditary Neuroblastoma; Neuroblastoma |
PIK3CA |
3q26.3 |
PIK3CA; phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
Follicular Carcinoma; Pituitary; PTEN-Hamartoma Tumor Syndromes |
PIM1 |
6p21.2 |
PIM1; pim-1 oncogene |
Hodgkin Lymphoma |
PKC |
16p11.2 |
PKC; proline-rich transmembrane protein 2 |
Pituitary |
PLAG1 |
8q12 |
PLAG1; pleiomorphic adenoma gene 1 |
Bone and Soft Tissue; Salivary Glands |
PLAG1-HAS2 |
t(8;8)(q12;q24) |
PLAG1-HAS2 |
Bone and Soft Tissue |
PML-RARA |
t(15;17)(q22;q21) |
PML-RARA |
Myeloid Neoplasms |
PMS1 |
2q31.1 |
PMS1; PMS1 postmeiotic segregation increased 1 |
Astrocytoma |
PMS2 |
7p22.2 |
PMS2; PMS2 postmeiotic segregation increased 2 |
Adrenal Cortex; Adrenal Cortical Neoplasms in Children; Astrocytoma; Biliary Tract/Liver/Pancreas; Breast Carcinoma, Female; Central Nervous System; Colon/Rectum; Endometrial Carcinoma; Esophagus; Gynecologic Neoplasms; Hereditary Pancreatic Cancer Syndrome; Lynch Syndrome ; Ovarian Carcinoma; Renal Urothelial Carcinoma |
POLH |
6p21.1 |
POLH; polymerase (DNA directed), eta |
Eye; Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
POU5F1P1 |
8q24.21 |
POU5F1B; POU class 5 homeobox 1B |
Hereditary Prostate Cancer |
PRAD1 |
11q13 |
CCND1; cyclin-D1 |
Parathyroid Hyperplasia |
PRKAR1A |
17q23-q24 |
PRKAR1A; protein kinase, cAMP-dependent, regulatory, type I, alpha |
Adrenal Cortex; Adrenal Cortical Carcinoma; Adrenal Cortical Neoplasms in Children; Carney Complex Including LAMB Syndrome; Clinical Diagnosis and Management of Familial; Familial Nonmedullary Thyroid Carcinoma; Familial Testicular Tumor; Familial Thyroid Carcinoma; Follicular Carcinoma; Peripheral Nervous System; Pituitary; Pituitary Adenoma; Primary Pigmented Nodular Adrenocortical Disease; Testicle; Testicular Sertoli Cell Neoplasms; Thyroid, Nonmedullary |
PRSS1 |
7q34 |
PRSS1; protease, serine, 1 (trypsin 1) |
Biliary Tract/Liver/Pancreas; Hereditary Pancreatic Cancer Syndrome |
PRSS2 |
7q34 |
PRSS2; protease, serine, 2 (trypsin 2) |
Biliary Tract/Liver/Pancreas; Hereditary Pancreatic Cancer Syndrome |
PTAG |
22q12.2 |
RHBDD3; rhomboid domain containing 3 |
Pituitary |
PTCH1 |
9q22.3 |
PTCH1; patched 1 |
Basal Cell Carcinoma; Basal Cell Nevus Syndrome/Gorlin Syndrome; Central Nervous System; Eye; Head and Neck; Medulloblastoma/CNS-PNET |
PTCH2 |
1p34.1 |
PTCH2; patched 2 |
Central Nervous System; Eye; Medulloblastoma/CNS-PNET |
PTEN |
10q23.31 |
PTEN; phosphotase and tensin homolog |
Birt-Hogg-Dubé Syndrome; Breast; Breast Carcinoma, Female; Breast Carcinoma, Male; Carney Complex Including LAMB Syndrome; Central Nervous System; Colon/Rectum; Endometrial Carcinoma; Familial Nonmedullary Thyroid Carcinoma; Familial Thyroid Carcinoma; Follicular Carcinoma; Gynecologic Neoplasms; Hereditary Multiple Melanoma; Juvenile Polyposis; Neurofibromatosis Type 1; Pathology of Familial Tumor Syndromes; Prostate Carcinoma; PTEN-Hamartoma Tumor Syndromes; Skin; Thyroid, Nonmedullary |
PTPN11 |
12q24 |
PTPN11; protein tyrosine phosphatase, non-receptor type 11 |
Astrocytoma; Central Nervous System; Costello Syndrome; Myeloid Neoplasms; Neurofibromatosis Type 1 |
PTTG |
5q35.1 |
PTTG1; pituitary tumor-transforming 1 |
Pituitary |
PU.1 |
11p11.2 |
SPI1; spleen focus forming virus (SFFV) proviral integration oncogene |
Hodgkin Lymphoma |
PVT1 |
8q24 |
PVT1; Pvt1 oncogene (non-protein coding) |
Familial Hodgkin Lymphoma |
PYGL |
14q21-q22 |
PYGL; phosphorylase, glycogen, liver |
Biliary Tract/Liver/Pancreas |
RAD50 |
5q31 |
RAD50; RAD50 homolog |
Breast; Breast Carcinoma, Female; Gynecologic Neoplasms |
RAD51B |
14q23-q24.2 |
RAD51B; RAD51 paralog B |
Breast Carcinoma, Female |
RAD51C |
17q22 |
RAD51C; RAD51 paralog C |
Breast; Breast Carcinoma, Female; Gynecologic Neoplasms; Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome; Ovarian Carcinoma |
RAD51D |
17q11 |
RAD51D; RAD51 paralog D |
Breast Carcinoma, Female; Gynecologic Neoplasms; Ovarian Carcinoma |
RAF1 |
3p25 |
RAF1; v-raf-1 murine leukemia viral oncogene homolog 1 |
Astrocytoma; Central Nervous System; Costello Syndrome; Neurofibromatosis Type 1 |
RAS |
multiple |
RAS; Rat sarcoma oncogene |
Follicular Carcinoma; Myeloid Neoplasms; Pheochromocytoma/Paraganglioma; Pituitary |
RB1/RB |
13q14.2 |
RB1; retinoblastoma 1 |
Adrenal Cortical Carcinoma; Bladder Carcinoma; Bone and Soft Tissue; Bone and Soft Tissue; Central Nervous System; Eye; Head and Neck; Hereditary Multiple Melanoma; Hereditary Retinoblastoma; Neuroendocrine Carcinoma, Lung; Osteosarcoma; Parathyroid Carcinoma; Pineoblastoma; Pituitary; Plasma Cell Myeloma; Prostate Carcinoma; Retinoblastoma; Salivary Glands |
RECQL4 |
8q24.3 |
RECQL4; RecQ protein-like 4 |
Bloom Syndrome; Werner Syndrome/Progeria; Xeroderma Pigmentosum |
REL |
2p13-p12 |
REL; v-rel reticuloendotheliosis viral oncogene homolog; c-REL |
Familial Hodgkin Lymphoma |
RET |
2p13-p12 |
RET; v-rel reticuloendotheliosis viral oncogene homolog; c-REL |
Adrenal Medulla; Adrenal Medullary Hyperplasia; C-Cell Hyperplasia; Familial Isolated Hyperparathyroidism; Familial Nonmedullary Thyroid Carcinoma; Familial Thyroid Carcinoma; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Medullary Thyroid Carcinoma; Multiple Endocrine Neoplasia Type 2/Familial Medullary Thyroid Carcinoma; Neurofibromatosis Type 1; Paraganglioma; Parathyroid; Parathyroid Adenoma; Parathyroid Carcinoma; Parathyroid Hyperplasia; Pheochromocytoma/Paraganglioma; Thyroid, Medullary |
RHBDF2 |
17q25.1 |
RHBDF2; rhomboid 5 homolog 2 |
Esophageal Squamous Cell Carcinoma; Esophagus; Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer |
RHOH |
4p13 |
RHOH; ras homolog family member H |
Hodgkin Lymphoma |
RMRP |
9p21-p12 |
RMRP; RNA component of mitochondrial RNA processing endoribonuclease |
Basal Cell Carcinoma |
RNASEL |
1q25 |
RNASEL; ribonuclease L (2′,5′-oligoisoadenylate synthetase-dependent) |
Hereditary Prostate Cancer; Prostate Carcinoma |
RPS19 |
19q13.2 |
RPS19; ribosomal protein S19 |
Blood and Bone Marrow; Myeloid Neoplasms |
RTEL1 |
20q13.3 |
RTEL1; regulator of telomere elongation helicase 1 |
Dyskeratosis Congenita |
RUNX1 |
21q22.3 |
RUNX1; runt-related transcription factor 1 |
Familial Acute Myeloid Leukemia; Myeloid Neoplasms |
RUNX1-RUNX1T1 |
t(8;21)(22;22.3) |
|
Myeloid Neoplasms |
SBDS |
7q11.21 |
SBDS; Shwachman-Bodian-Diamond syndrome |
Blood and Bone Marrow |
SDH/SDHx |
multiple |
succinate dehydrogenase complex |
Adrenal Medullary Hyperplasia; Familial Gastrointestinal Stromal Tumor; Paraganglioma; Pathology of Familial Tumor Syndromes; PTEN-Hamartoma Tumor Syndromes |
SDHA |
5p15 |
SDHA; succinate dehydrogenase complex, subunit A, flavoprotein |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pathology of Familial Tumor Syndromes; Pheochromocytoma/Paraganglioma |
SDHAF2 |
11q12.2 |
SDHAF2; succinate dehydrogenase complex assembly factor 2 |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pheochromocytoma/Paraganglioma |
SDHB |
1p36 |
SDHB; succinate dehydrogenase complex, subunit B, iron sulfur |
Adrenal Medulla; Adrenal Medullary Hyperplasia; Esophagus; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Hereditary Renal Epithelial Tumors, Others; Kidney; Paraganglioma; Pheochromocytoma/Paraganglioma |
SDHC |
1q21-23 |
SDHC; succinate dehydrogenase complex, subunit C, integral membrane protein |
Adrenal Medulla; Esophagus; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pheochromocytoma/Paraganglioma |
SDHD |
11q23 |
SDHD; succinate dehydrogenase complex, subunit D, integral membrane protein |
Adrenal Medulla; Esophagus; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pheochromocytoma/Paraganglioma |
SEC31A-ALK |
t(2;4)(p23;q21.22) |
|
Diffuse Large B-Cell Lymphoma |
SERPINA1 |
14q32.1 |
SERPINA1; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1; |
Biliary Tract/Liver/Pancreas |
SF3B1 |
2q33.1 |
SF3B1; splicing factor 3b, subunit 1, 155kDa |
Chronic Lymphocytic Leukemia |
SHH |
7q36 |
SHH; sonic hedgehog |
Medulloblastoma/CNS-PNET |
SHOC2 |
10q25 |
SHOC2; soc-2 suppressor of clear homolog |
Costello Syndrome |
SLC25A13 |
7q21.3 |
SLC25A13; solute carrier family 25 (aspartate/glutamate carrier), member 13 |
Biliary Tract/Liver/Pancreas |
SLC26A4 |
7q31 |
SLC26A4; solute carrier family 26, member 4 |
Familial Nonmedullary Thyroid Carcinoma; Familial Thyroid Carcinoma; Thyroid, Nonmedullary |
SMAD4 |
18q21.1 |
SMAD4; SMAD family member 4 |
Biliary Tract/Liver/Pancreas; Colon/Rectum; Esophagus; Juvenile Polyposis; Pancreatic Endocrine Tumor; Small Bowel Adenocarcinoma |
SMARCA4/BRG1 |
19p13.2 |
SMARCA4; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
Rhabdoid Predisposition Syndrome |
SMARCB1/INI1/BAF47/hSNF5 |
22q11 |
SMARCB1; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Bone and Soft Tissue; Central Nervous System; Meningioma; Peripheral Nervous System; Rhabdoid Predisposition Syndrome; Schwannomatosis |
SMARCE1 |
17q21.2 |
SMARCE1; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member |
Central Nervous System; Meningioma |
SMO |
7q32.3 |
SMO; smoothened, frizzled family receptor |
Medulloblastoma/CNS-PNET; Meningioma |
SOS1 |
2p21 |
SOS1; son of sevenless homolog 1 |
Astrocytoma; Central Nervous System; Costello Syndrome; Neurofibromatosis Type |
SOX9 |
17q23 |
SOX9; SRY (sex determining region Y)-box 9 |
Basal Cell Carcinoma |
SPINK1 |
5q32 |
SPINK1; serine peptidase inhibitor, Kazal type 1 |
Biliary Tract/Liver/Pancreas; Hereditary Pancreatic Cancer Syndrome |
SPOP |
17q21.33 |
SPOP; speckle-type POZ protein |
Prostate Carcinoma |
SPRED1 |
15q14 |
SPRED1; sprouty-related, EVH1 domain containing 1 |
Neurofibromatosis Type 1 |
SPRY4 |
5q31.3 |
SPRY4; sprouty homolog 4 |
Familial Testicular Tumor; Testicle |
SRP72 |
4q11 |
SRP72; signal recognition particle 72kDa |
Familial Acute Myeloid Leukemia |
SS18/SYT |
18q11.2 |
SS18; synovial sarcoma translocation, chromosome 18 |
Bone and Soft Tissue; Malignant Peripheral Nerve Sheath Tumor |
SS18L1-SSX1 |
t(X;20)(p11.23;q13.3) |
SS18L1-SSX1 |
Bone and Soft Tissue |
SSX |
multiple |
synovial sarcoma, X |
Malignant Peripheral Nerve Sheath Tumor |
SSX1 |
Xp11.23 |
SSX1; synovial sarcoma, X breakpoint 1 |
Bone and Soft Tissue |
SSX2 |
Xp11.22 |
SSX2; synovial sarcoma, X breakpoint 2 |
Bone and Soft Tissue |
SSX4 |
Xp11.23 |
SSX4; synovial sarcoma, X breakpoint 4 |
Bone and Soft Tissue |
STAT5B/STAT5 |
17q11.2 |
STAT5B; signal transducer and activator of transcription |
Prostate Carcinoma |
STK11/LKB1 |
19p13.3 |
STK11; serine/threonine kinase 11 |
Biliary Tract/Liver/Pancreas; Breast; Breast Carcinoma, Female; Cervical Carcinoma; Colon/Rectum; Endometrial Carcinoma; Esophagus; Familial Testicular Tumor; Gynecologic Neoplasms; Hereditary Pancreatic Cancer Syndrome; Ovarian Carcinoma; Peutz-Jeghers Syndrome; Pineoblastoma; Testicle; Testicular Sertoli Cell Neoplasms |
SUFU |
10q24.32 |
SUFU; suppressor of fused homolog |
Central Nervous System; Eye; Medulloblastoma/CNS-PNET; Meningioma |
TACSTD1 |
2p21 |
EPCAM; epithelial cell adhesion molecule |
Renal Urothelial Carcinoma |
TAFII68-NR4A3 |
t(9;17)(q22;q11) |
|
Bone and Soft Tissue |
TAT |
16q22.1 |
TAT; tyrosine aminotransferase |
Biliary Tract/Liver/Pancreas |
TCAB1 |
17p13.1 |
WRAP53; WD repeat containing, antisense to TP53 |
Dyskeratosis Congenita |
TCF12-NR4A3 |
t(9;15)(q22;q21) |
|
Bone and Soft Tissue |
TERC |
3q26 |
TERC; telomerase RNA component |
Blood and Bone Marrow; Dyskeratosis Congenita; Familial Acute Myeloid Leukemia; Head and Neck; Squamous Cell Carcinoma, Head and Neck |
TERT |
5p15.33 |
TERT; telomerase reverse transcriptase |
Blood and Bone Marrow; Dyskeratosis Congenita; Familial Acute Myeloid Leukemia; Familial Nonmedullary Thyroid Carcinoma; Head and Neck; Squamous Cell Carcinoma, Head and Neck |
TGFBR3-MGEA5 |
t(1;10)(p22;q24) |
Bone and Soft Tissue |
TGFβ |
19q13.1 |
TGFB1; transforming growth factor, beta 1 |
Colon Adenoma |
TINF2 |
14q12 |
TINF2; TERF1 (TRF1)-interacting nuclear factor 2 |
Blood and Bone Marrow; Dyskeratosis Congenita; Head and Neck; Squamous Cell Carcinoma, Head and Neck |
TMEM127 |
2q11.2 |
TMEM127; transmembrane protein 127 |
Adrenal Medulla; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Paraganglioma; Pheochromocytoma/Paraganglioma |
TMPRSS2 |
21q22.3 |
TMPRSS2; transmembrane protease, serine 2 |
Prostate Carcinoma |
TP53 |
17p13.1 |
TP53; tumor protein p53 |
Adrenal Cortex; Adrenal Cortical Carcinoma; Adrenal Cortical Neoplasms in Children; Astrocytoma; Basal Cell Carcinoma; Biliary Tract/Liver/Pancreas; Bladder Carcinoma; Bone and Soft Tissue; Breast; Breast Carcinoma, Female; Central Nervous System; Choroid Plexus Tumors; Chronic Lymphocytic Leukemia; Clinical Diagnosis and Management of Familial; Colon/Rectum; Endometrial Carcinoma; Fallopian Tube Carcinoma; Follicular Lymphoma; Hereditary Breast/Ovarian Cancer Syndrome: BRCA1; Hereditary Breast/Ovarian Cancer Syndrome: BRCA2; Hereditary Multiple Melanoma; Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome; Malignant Peripheral Nerve Sheath Tumor; Medulloblastoma/CNS-PNET; Neurofibromatosis Type 1; Osteosarcoma; Pancreatic Endocrine Tumor; Pineoblastoma; Pituitary Carcinoma; Plasma Cell Myeloma; Prostate Carcinoma; Small Bowel Adenocarcinoma; Squamous Cell Carcinoma, Head and Neck; Wilms Tumor |
TPCN2 |
11q13.3 |
TPCN2; two pore segment channel 2 |
Hereditary Multiple Melanoma |
TPM3-ALK |
t(1;2)(q21.2;p23) |
TPM3-ALK |
Bone and Soft Tissue |
TRAF7 |
16p13.3 |
TRAF7; TNF receptor-associated factor 7, E3 ubiquitin protein ligase |
Meningioma |
TRC8 |
8q24 |
TRC8; RNF139; ring finger protein 139 |
Hereditary Renal Epithelial Tumors, Others; Kidney |
TRK |
1q21-q22 |
NTRK1; neurotrophic tyrosine kinase, receptor, type 1 |
Familial Nonmedullary Thyroid Carcinoma |
TRPS1 |
8q24.12 |
TRPS1; trichorhinophalangeal syndrome I |
Hereditary Multiple Exostosis |
TSC1 |
9q34 |
TSC1; tuberous sclerosis 1 |
Angiomyolipoma; Astrocytoma; Biliary Tract/Liver/Pancreas; Birt-Hogg-Dubé Syndrome; Central Nervous System; Eye; Familial Chordoma; Hereditary Pancreatic Cancer Syndrome; Hereditary Renal Epithelial Tumors, Others; Kidney; Pancreas; Pancreatic Endocrine Tumor; Tuberous Sclerosis Complex |
TSC2/PKD1 |
16p13.3 |
TSC2; tuberous sclerosis 2 |
Angiomyolipoma; Astrocytoma; Biliary Tract/Liver/Pancreas; Birt-Hogg-Dubé Syndrome; Central Nervous System; Eye; Familial Chordoma; Hereditary Pancreatic Cancer Syndrome; Hereditary Renal Epithelial Tumors, Others; Kidney; Pancreas; Pancreatic Endocrine Tumor; Tuberous Sclerosis Complex |
TSHR |
14q31 |
TSHR; thyroid stimulating hormone receptor |
Familial Nonmedullary Thyroid Carcinoma |
TYR |
11q14.3 |
TYR; tyrosinase |
Hereditary Multiple Melanoma |
TYRP1 |
9p23 |
TYRP1; tyrosinase-related protein 1 |
Hereditary Multiple Melanoma |
ULK4 |
3p22.1 |
ULK4; unc-51 like kinase 4 |
Familial Plasma Cell Myeloma |
USB1/C16orf57 |
16q21 |
USB1; U6 snRNA biogenesis 1 |
Dyskeratosis Congenita |
USP6 |
17p13 |
USP6; ubiquitin specific peptidase 6 (Tre-2 oncogene) |
Bone and Soft Tissue |
VDR |
12q13.11 |
VDR; vitamin D (1,25- dihydroxyvitamin D3) receptor |
Hereditary Multiple Melanoma |
VHL |
3p25.3 |
VHL; von Hippel-Lindau tumor suppressor |
Adrenal Medulla; Biliary Tract/Liver/Pancreas; Central Nervous System; Clear Cell Renal Cell Carcinoma; Clinical Diagnosis and Management of Familial; Endolymphatic Sac Tumor; Eye; Gynecologic Neoplasms; Hereditary Leiomyomatosis and Renal Cell Carcinoma/Reed Syndrome; Hereditary Pancreatic Cancer Syndrome; Hereditary Paraganglioma/Pheochromocytoma Syndromes; Hereditary Renal Epithelial Tumors, Others; Kidney; Pancreas; Pancreatic Endocrine Tumor; Paraganglioma; Pheochromocytoma/Paraganglioma; Salivary Glands; von Hippel-Lindau Syndrome |
WAS |
Xp11.4-p11.21 |
WAS; Wiskott-Aldrich syndrome |
Blood and Bone Marrow |
WNT |
multiple |
wingless-type family |
Medulloblastoma/CNS-PNET |
WRN/RECQL2 |
8p12 |
WRN; Werner syndrome, RecQ helicase-like |
Bloom Syndrome; Eye; Familial Nonmedullary Thyroid Carcinoma; Familial Thyroid Carcinoma; Follicular Carcinoma; Hereditary Multiple Melanoma; Thyroid, Nonmedullary; Werner Syndrome/Progeria |
WT1 |
11p13 |
WT1; Wilms tumor 1 |
Beckwith-Wiedemann Syndrome; Denys-Drash Syndrome; Familial Wilms Tumor; Kidney; Wilms Tumor; Wilms Tumor-Associated Syndromes |
WT1-EWSR1 |
t(11;22)(p13;q12) |
WT1-EWSR1 |
Rhabdomyosarcoma |
WT2 |
19q13.4 |
genetic linkage region (no specific gene identified) |
Familial Wilms Tumor; Kidney; Wilms Tumor |
WTX/FAM123B |
Xq11.2 |
AMER1; APC membrane recruitment protein 1 |
Wilms Tumor |
XPA |
9q22.3 |
XPA; xeroderma pigmentosum, complementation group A |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
XPA-XPG |
multiple |
xeroderma pigmentosum, complementation group A through G |
Eye; Head and Neck; Squamous Cell Carcinoma, Head and Neck |
XPB |
2q21 |
ERCC3; excision repair cross-complementing rodent repair deficiency, complementation group 3 |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
XPC |
3p25 |
XPC; xeroderma pigmentosum, complementation group C |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
XPD |
19q13.3 |
ERCC2; excision repair cross-complementing rodent repair deficiency, complementation group 2 |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
XPE |
11q12-q13 |
DDB1; damage-specific DNA binding protein 1 |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
XPF |
16p13.12 |
ERCC4; excision repair cross-complementing rodent repair deficiency, complementation group 4 |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
XPG |
13q33 |
ERCC5; excision repair cross-complementing rodent repair deficiency, complementation group 5 |
Hereditary Multiple Melanoma; Xeroderma Pigmentosum |
