Table 1.
Pathogenic or likely pathogenic germline mutations associated with malignant mesothelioma*.
| 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] |
* Gene chromosome location, function and implication in other tumors were listed on the basis of gene annotations provided by the National Center for Biotechnology Information’s Online Mendelian Inheritance in Man, available online: https://www.ncbi.nlm.nih.gov/omim (accessed on 8 June 2020), The Human Gene Database, Weizmann Institute of Science, available online: https://www.genecards.org (accessed on 8 June 2020) and the Atlas of Genetics and Cytogenetics in Oncology and Haematology, available online: http://atlasgeneticsoncology.org (accessed on 8 June 2020).