Cancer genes that have deletion mutations.

This table is a list of the cancer genes that are characterised by large deletions and covers the abnormalities that result in allele loss/loss of heterozygosity at many recessive cancer genes. The full version of this table can be downloaded here .This is part of Table 1 in Futreal et al.

Symbol

Name

Entrez GeneID

Tumour Types (Somatic Mutations)

Tumour Types (Germline Mutations)

Cancer Syndrome

APC

adenomatous polyposis of the colon gene

324

colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS

colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS

Adenomatous polyposis coli; Turcot syndrome

ATM

ataxia telangiectasia mutated

472

T-PLL

leukemia, lymphoma, medulloblastoma, glioma

Ataxia-telangiectasia

BRCA1

familial breast/ovarian cancer gene 1

672

ovarian

breast, ovarian

Hereditary breast/ovarian cancer

BRCA2

familial breast/ovarian cancer gene 2

675

breast, ovarian, pancreatic

breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)

Hereditary breast/ovarian cancer

CDKN2A- p14ARF

cyclin-dependent kinase inhibitor 2A-- p14ARF protein

1029

melanoma, multiple other tumour types

melanoma, pancreatic

Familial malignant melanoma

CDKN2A -p16(INK4a)

cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene

1029

melanoma, multiple other tumour types

melanoma, pancreatic

Familial malignant melanoma

FANCA

Fanconi anemia, complementation group A

2175

AML, leukemia

Fanconi anaemia A

FANCC

Fanconi anemia, complementation group C

2176

AML, leukemia

Fanconi anaemia C

FANCD2

Fanconi anemia, complementation group D2

2177

AML, leukemia

Fanconi anaemia D2

FBXW7

F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)

55294

colorectal, endometrial, T-ALL

GPC3

glypican 3

2719

Wilms tumour

Simpson-Golabi-Behmel syndrome

KDM6A

lysine (K)-specific demethylase 6A, UTX

7403

renal, oesophageal SCC, MM

MADH4

Homolog of Drosophila Mothers Against Decapentaplegic 4 gene

4089

colorectal, pancreatic, small intestine

gastrointestinal polyps

Juvenile polyposis

MAP2K4

mitogen-activated protein kinase kinase 4

6416

pancreatic, breast, colorectal

MEN1

multiple endocrine neoplasia type 1 gene

4221

parathyroid tumors

parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid

Multiple Endocrine Neoplasia Type 1

MLH1

E.coli MutL homolog gene

4292

colorectal, endometrial, ovarian, CNS

colorectal, endometrial, ovarian, CNS

Hereditary non-polyposis colorectal cancer, Turcot syndrome

MSH2

mutS homolog 2 (E. coli)

4436

colorectal, endometrial, ovarian

colorectal, endometrial, ovarian

Hereditary non-polyposis colorectal cancer

NF1

neurofibromatosis type 1 gene

4763

neurofibroma, glioma

neurofibroma, glioma

Neurofibromatosis type 1

NF2

neurofibromatosis type 2 gene

4771

meningioma, acoustic neuroma, renal, mesothelioma

meningioma, acoustic neuroma

Neurofibromatosis type 2

PTEN

phosphatase and tensin homolog gene

5728

glioma, prostate, endometrial

harmartoma, glioma, prostate, endometrial

Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome

RB1

retinoblastoma gene

5925

retinoblastoma, sarcoma, breast, small cell lung

retinoblastoma, sarcoma, breast, small cell lung

Familial retinoblastoma

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

6598

malignant rhabdoid

malignant rhabdoid

Rhabdoid predisposition syndrome

STK11

serine/threonine kinase 11 gene (LKB1)

6794

NSCLC, pancreatic

jejunal harmartoma, ovarian, testicular, pancreatic

Peutz-Jeghers syndrome

SUFU

suppressor of fused homolog (Drosophila)

51684

medulloblastoma

medulloblastoma

Medulloblastoma predisposition

TNFAIP3

tumor necrosis factor, alpha-induced protein 3

7128

marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma

TSC1

tuberous sclerosis 1 gene

7248

hamartoma, renal cell

Tuberous sclerosis 1

TSC2

tuberous sclerosis 2 gene

7249

hamartoma, renal cell

Tuberous sclerosis 2

VHL

von Hippel-Lindau syndrome gene

7428

renal, hemangioma, pheochromocytoma

renal, hemangioma, pheochromocytoma

von Hippel-Lindau syndrome

WT1

Wilms tumour 1 gene

7490

Wilms, desmoplastic small round cell tumor

Wilms

Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor

WTX

family with sequence similarity 123B (FAM123B)

139285

Wilms tumour

A, amplification; AEL, acute eosinophilic leukemia; AL, acute leukemia; ALCL, anaplastic large-cell lymphoma; ALL, acute lymphocytic leukemia; AML, acute myelogenous leukemia; AML*, acute myelogenous leukemia (primarily treatment associated); APL, acute promyelocytic leukemia; B-ALL, B-cell acute lymphocytic leukaemia; B-CLL, B-cell Lymphocytic leukemia; B-NHL, B-cell Non-Hodgkin Lymphoma; CLL, chronic lymphatic leukemia; CML, chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; CNS, central nervous system; D, large deletion; DFSP, dermatofibrosarcoma protuberans; DLBL, diffuse large B-cell lymphoma; DLCL, diffuse large-cell lymphoma; Dom, dominant; E, epithelial; F, frameshift; GIST, gastrointestinal stromal tumour; JMML, juvenile myelomonocytic leukemia; L, leukaemia/lymphoma; M, mesenchymal; MALT, mucosa-associated lymphoid tissue lymphoma; MDS, myelodysplastic syndrome; Mis, Missense; MLCLS, mediastinal large cell lymphoma with sclerosis; MM, multiple myeloma; MPD, Myeloproliferative disorder; N, nonsense; NHL, non-Hodgkin lymphoma; NK/T, natural killer T cell; NSCLC, non small cell lung cancer; O, other; PMBL, primary mediastinal B-cell lymphoma; pre-B All, pre-B-cell acute lymphoblastic leukaemia; Rec, recesive; S, splice site; T, translocation; T-ALL, T-cell acute lymphoblastic leukemia; T-CLL, T-cell chronic lymphocytic leukaemia; TGCT, testicular germ cell tumour; T-PLL, T cell prolymphocytic leukaemia;