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Table 1 Selected mutated genes in candidate TSG screen

From: Loss of heterozygosity: what is it good for?

Gene

Location

Description

Recessive TSGa

Predominant subtypes

TCGA mutatedb

Detected by

ANKRD32

5q15

ankyrin repeat domain 32

 

HG S/E + LG E + CC

9

Deleterious

APOOL

Xq21.1

apolipoprotein O-like

 

HG S/E

0

Biallelic

BRCA1

17q21.31

breast cancer 1, early onset

Y

HG S/E

12

Biallelic, Deleterious

C9ORF172

9q34.3

chromosome 9 open reading frame 172

 

HG S/E

5

Biallelic

CACNA1B

9q34

calcium channel, voltage-dependent, N type, alpha 1B subunit

 

LG E + CC

7

Deleterious

CASK

Xp11.4

calcium/calmodulin-dependent serine protein kinase

 

HG S/E

2

Biallelic

CDH8

16q22.1

cadherin 8, type 2

 

HG S/E

9

Biallelic

CDKN2A

9p21

cyclin-dependent kinase inhibitor 2A

Y

Muc

8

MuSiC, Biallelic, Deleterious

CYLC1

Xq21.1

cylicin, basic protein of sperm head cytoskeleton 1

 

HG S/E

4

Deleterious

DACH2

Xq21.3

dachshund homolog 2 (Drosophila)

 

HG S/E

3

Biallelic

DNAH9

17p12

dynein, axonemal, heavy chain 9

 

LG E

16

MuSiC

EPHX2

8p21

epoxide hydrolase 2, cytoplasmic

 

HG S/E

12

Biallelic

FANCA

16q24.3

Fanconi anemia, complementation group A

Y

HG S/E

12

Biallelic, Deleterious

FARP1

13q32.2

FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1

 

HG S/E

3

Biallelic

GPR98

5q13

G protein-coupled receptor 98

 

HG S/E

17

Biallelic

GRAMD4

22q13.31

GRAM domain containing 4

 

HG S/E

18

Biallelic, Deleterious

IL16

15q26.3

interleukin 16

 

HG S/E

4

Biallelic, Deleterious

LINGO1

15q24.3

leucine rich repeat and Ig domain containing 1

 

HG S/E

4

MuSiC

MAP2K4

17p12

mitogen-activated protein kinase kinase 4

Y

HG S/E

12

Biallelic, Deleterious

MEF2C

5q14.3

myocyte enhancer factor 2C

 

HG S/E

8

MuSiC

MYOCD

17p11.2

myocardin

 

HG S/E

7

Biallelic, Deleterious

NF1

17q11.2

neurofibromin 1

Y

HG S/E

37

Biallelic

PIK3R1

5q13.1

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

Y

LG E

6

Deleterious

PNMA3

Xq28

paraneoplastic Ma antigen 3

 

HG S/E

2

Biallelic

PTEN

10q23

phosphatase and tensin homolog

Y

LG E

25

MuSiC, Biallelic, Deleterious

RAI1

17p11.2

retinoic acid induced 1

 

HG S/E

4

Biallelic

RB1

13q14.2

retinoblastoma 1

Y

HG S/E

32

Biallelic, Deleterious

RPS6KA6

Xq21.1

ribosomal protein S6 kinase, 90 kDa, polypeptide 6

 

HG S/E + LG E

0

Deleterious

SAMD11

1p36.33

sterile alpha motif domain containing 11

 

HG S/E

7

MuSiC, Deleterious

SKG223

8p23.1

Sugen kinase 223

 

HG S/E + Muc

7

Biallelic

STARD5

15q26

StAR-related lipid transfer (START) domain containing 5

 

HG S/E

1

MuSiC

SYNE1

6q25

spectrin repeat containing, nuclear envelope 1

 

HG S/E

14

Biallelic

TEX15

8p22

testis expressed 15

 

HG S/E

13

Biallelic

TP53

17p13.1

tumor protein p53

Y

HG S/E

302

MuSiC, Biallelic

ZNF287

17p11.2

zinc finger protein 287

 

HG S/E

4

MuSiC, Deleterious

ZNRF4

19p13.3

zinc and ring finger 4

 

HG S/E

1

MuSiC

  1. LG E, low-grade endometrioid; HG S/E, high-grade serous/endometrioid; Muc, mucinous; CC, clear cell
  2. aKnown recessive tumour suppressor gene according to the Cancer Gene Census [32]
  3. bNumber of high-grade serous TCGA samples with somatic point mutations and indels including large homozygous deletions. Mutation data for 316 TCGA samples [33] was accessed through the cBio Cancer Genomic Portal [34]
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BMC Medical Genomics

ISSN: 1755-8794

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