Table 1.
Selected mutated genes in candidate TSG screen
| 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 |
LG E, low-grade endometrioid; HG S/E, high-grade serous/endometrioid; Muc, mucinous; CC, clear cell
aKnown recessive tumour suppressor gene according to the Cancer Gene Census [32]
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]