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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]