Inherited Genetic Mutations and Polymorphisms in Malignant Mesothelioma: A Comprehensive Review
Abstract
:1. Introduction
2. Results and Discussion
2.1. Pathogenic or Likely Pathogenic Genetic Variants
2.1.1. BAP1 Gene
2.1.2. Genetic Variants in DNA Repair Genes
2.1.3. Genetic Variants in Other Genes
2.2. Genetic Polymorphisms Associated with MM
2.2.1. Genome-Wide Association Studies
2.2.2. Polymorphisms in Carcinogen Detoxification Genes
2.2.3. Polymorphisms in DNA Repair Genes
3. Materials and Methods
4. Conclusions
Author Contributions
Funding
Conflicts of Interest
Abbreviations
MM | Malignant mesothelioma |
MPM | Malignant pleural mesothelioma |
SNPs | Single nucleotide polymorphisms |
MeSH | Medical Subject Headings |
BAP1 | Breast cancer gene 1-associated protein 1 |
UV | Uveal melanoma |
CM | Cutaneous melanoma |
RCC | Renal cell carcinoma |
MBAITs | Melanocytic BAP1-mutated atypical intradermal tumors |
HR | Homologous Recombination |
MMR | Mismatch repair system |
NHEJ | Non-homologous recombination end joining |
NER | Nucleotide excision repair |
FANC | Fanconi anemia complementation group |
PARPi | Poly (ADP-ribose) polymerase inhibitors |
GWAS | Genome-wide association studies |
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Gene | Location | Function | Implication in Other Tumors | Reference |
---|---|---|---|---|
BAP1 | 3 | Tumor suppressor, DNA repair | Uveal and cutaneous melanoma, renal cell carcinoma, non-melanoma skin cancer, meningioma, cholangiocarcinoma | [18] |
BRCA1 | 17 | Tumor suppressor, DNA repair | Breast, ovarian, prostate, colon and pancreatic cancer, melanoma | [7,19] |
BRCA2 | 13 | Tumor suppressor, DNA repair | Breast, ovarian, prostate and pancreatic cancer, melanoma | [7,19] |
BARD1 | 2 | DNA repair | Breast and ovarian cancer | [20] |
TP53 | 17 | Tumor suppressor, DNA repair | Lung, head and neck, ovarian, breast, bladder, liver and colorectal cancer, melanoma, osteosarcoma, rhabdomyosarcoma, glioma, adrenocortical carcinoma, cholangiocarcinoma | [7,21,22] |
PALB2 | 16 | Tumor suppressor, DNA repair | Breast, ovarian and pancreatic cancer | [19] |
CHEK2 | 22 | DNA repair | Breast, ovarian and prostate cancer, osteosarcoma | [7] |
ATM | 11 | DNA repair | Breast and bladder cancer, melanoma | [7,19] |
SLX4 | 16 | DNA repair | Head and neck and pancreatic cancer | [19] |
FANCC | 9 | DNA repair | Breast, head and neck and pancreatic cancer | [19] |
FANCF | 11 | DNA repair | Breast, head and neck, pancreatic and prostate cancer | [19] |
FANCI | 10 | DNA repair | Breast, head and neck, pancreatic and prostate cancer | [19] |
RAD50 | 5 | DNA repair | Prostate and breast cancer | [23] |
MRE11A | 11 | DNA repair | Breast and prostate cancer | [7] |
WT1 | 11 | DNA repair | Wilm´s tumor | [7] |
RECQL4 | 8 | DNA repair | Osteosarcoma | [20] |
XPC | 3 | DNA repair | Basal and squamous cell carcinoma, melanoma | [19] |
SETD2 | 3 | Tumor suppressor, DNA repair, chromatin regulation | Renal cell carcinoma, leukemia | [23] |
PMS1 | 2 | DNA repair | Colon cancer | [19] |
MSH3 | 3 | DNA repair | Colon and endometrial cancer | [20] |
MSH6 | 2 | DNA repair | Colorectal, endometrial and ovarian cancer, leukemia, lymphoma | [7,24,25] |
MLH1 | 3 | Tumor suppressor, DNA repair | Colorectal, endometrial and ovarian cancer, leukemia, lymphoma | [23] |
POT1 | 7 | DNA repair, telomere maintenance | Melanoma, glioma | [4] |
NCOR1 | 17 | Chromatin regulation | - | [23] |
ARID1A | 1 | Tumor suppressor, chromatin regulation | Ovarian, endometrial, kidney, stomach, bladder, lung, breast and brain cancer, cholangiocarcinoma | [23] |
SMARCE1 | 17 | Chromatin regulation | - | [23] |
ARID2 | 12 | Tumor suppressor, chromatin regulation | - | [23] |
CREBBP | 16 | Tumor suppressor, transcription regulation | Bladder cancer, leukemia | [23] |
SMARCA4 | 9 | Tumor suppressor, chromatin regulation | Lung cancer, rhabdoid tumor predisposition syndrome type 2 | [23] |
SMARCA2 | 9 | Tumor suppressor, chromatin regulation | Lung and head and neck cancer | [23] |
SHQ1 | 3 | Tumor suppressor, ribosomal and telomerase RNA processing | - | [20] |
RBM6 | 3 | Tumor suppressor, RNA processing | - | [23] |
NF2 | 22 | Tumor suppressor | Schwannoma | [21] |
CDKN2A | 9 | Tumor suppressor, cell cycle regulation | Bladder, head and neck, lung, breast and pancreatic cancer, melanoma | [7,21] |
KDR | 4 | Tyrosine kinase receptor | - | [23] |
TMEM127 | 2 | Tumor suppressor, rapamycin signaling pathway | - | [7] |
SMO | 7 | G-protein couple receptor | Basal cell carcinoma | [23] |
SDHA | 5 | Regulation of hypoxia inducible factor expression | Gastrointestinal stromal tumor | [7] |
VHL | 3 | Regulation of hypoxia inducible factor expression | Von Hippel–Lindau syndrome | [7] |
SNP | Locus | Gene/Neighboring Genes | Gene Function | References |
---|---|---|---|---|
rs17228032 | 11q24.1 | CRTAM, JHY, UBASH3B | Adaptive immune response | [87] |
rs1379270 | 5q13 | RASGRF2, CKMT2, MSH3 | Apoptosis, Rho and Ras protein and small GTPase mediated signal transduction regulation | [87] |
rs12540101 | 7p22.2 | SDK1, CYP3A54P, CARD11 | Cell adhesion | [87] |
rs12701229 | 7p22.2 | SDK1, CYP3A54P, CARD11 | Cell adhesion | [87] |
rs10089418 | 8p21.3 | LOC286114, LINC02153, LZTS1 | - | [87] |
rs11126523 | 2p12 | C2orf3, LRRTM4 | - | [87] |
rs13287752 | 9p21.1 | MIR873, C9orf72 | - | [87] |
rs282718 | 4q12 | IGFBP7, LINC02390, IGFBP7 | - | [87] |
rs4707427 | 6q15 | SPACA1, AKIRIN2 | - | [87] |
rs4895337 | 5q23.1 | FTMT, SRFBP1 | - | [87] |
rs7958488 | 12p13.31 | CD27 | - | [87] |
rs8142386 | 22q112 | LOC150185 | - | [87] |
rs9548166 | 13q13.3 | LINC00571, LINC02334 | - | [87] |
rs7841347 | 8q24.21 | PVT1, MYC, TMEM75 | Oncogene, Transcription regulation | [88] |
rs3801094 | 7p21.2 | ETV1, ARL4A, DGKB | Oncogene, Transcription regulation | [88] |
rs9833191 | 3p24.2 | THRB, NR1D2, MIR4792 | Tumor suppressor, Transcription regulation | [88] |
rs7632718 | 3q26.2 | SLC7A14, CLDN11, RPL22L1 | Amino acid transport | [88] |
rs4701085 | 5q35.3 | ADAMTS2, ZNF354C, AX747985 | Collagen degradation | [88] |
rs2501618 | 1q25.2 | CEP350, TOR1AIP1 | Microtubule anchoring | [88] |
rs10519201 | 15q21.1 | SHC4, EID1, SEDISBP2L | Apoptosis, Regulation of cell proliferation | [88] |
rs1508805 | 5q23.1 | PRR16, FTMT | - | [88] |
rs4290865 | 4q22.1 | FAM190A, GRID2 | - | [88] |
rs5756444 | 22q12.3 | CXF2RB2, C22orf33, TEX33 | - | [88] |
rs742109 | 6q21 | PRDM1, ATGS | - | [88] |
rs9536579 | 13q14.3 | OLFMS, MIR1297 | - | [88] |
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Panou, V.; Røe, O.D. Inherited Genetic Mutations and Polymorphisms in Malignant Mesothelioma: A Comprehensive Review. Int. J. Mol. Sci. 2020, 21, 4327. https://doi.org/10.3390/ijms21124327
Panou V, Røe OD. Inherited Genetic Mutations and Polymorphisms in Malignant Mesothelioma: A Comprehensive Review. International Journal of Molecular Sciences. 2020; 21(12):4327. https://doi.org/10.3390/ijms21124327
Chicago/Turabian StylePanou, Vasiliki, and Oluf Dimitri Røe. 2020. "Inherited Genetic Mutations and Polymorphisms in Malignant Mesothelioma: A Comprehensive Review" International Journal of Molecular Sciences 21, no. 12: 4327. https://doi.org/10.3390/ijms21124327