| ALK |
Autosomal dominant pathogenic variants in the ALK gene are associated with familial neuroblastoma, and confer a small increased risk (low penetrance) for this type of cancer. |
PubMed: 25124476, 28055978 |
| APC |
Heterozygous pathogenic variants in APC are associated with both classic and attenuated familial adenomatous polyposis (FAP), Gardner syndrome, Turcot syndrome, and Hereditary Desmoid disease. |
PubMed: 20301519; OMIM: 175100 |
| ATM |
Biallelic pathogenic variants in ATM have been associated with ataxia-telangiectasia, which may be associated with an increased risk for brain tumors. Additional research is needed. |
PubMed: 27911673, 20301790; OMIM: 607585, 208900 |
| MSH6 |
While heterozygous pathogenic variants in MSH6 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). |
PubMed: 20301390, 22692065; OMIM: 120436 |
| HRAS |
Heterozygous pathogenic variants in HRAS cause Costello syndrome. Individuals with Costello syndrome have a 15% lifetime risk for developing a malignant tumor, which can include rhabdomyosarcoma, neuroblastoma, and carcinoma of the bladder. |
PubMed: 20301680, 27155140; OMIM: 190020 |
| EPCAM |
Heterozygous pathogenic variants in the EPCAM gene cause Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, which increases the risk for brain cancer. Glioblastoma is the most common type, although other central nervous system tumors have been reported. |
PubMed: 20301390, 23462293 |
| MEN1 |
Autosomal dominant pathogenic variants in the gene MEN1 cause Multiple endocrine neoplasia type 1 (MEN1), which is associated with an increased risk for both endocrine and non-endocrine tumors, including meningiomas and ependymomas. |
PubMed: 20301710; OMIM: 131100 |
| MLH1 |
While heterozygous pathogenic variants in MLH1 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). |
PubMed: 20301390, 22692065; OMIM: 120436 |
| MSH2 |
While heterozygous pathogenic variants in MSH2 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). |
PubMed: 20301390, 22692065; OMIM: 120436 |
| NF1 |
Autosomal dominant pathogenic variants in NF1 cause Neurofibromatosis Type 1, which is associated with several types of benign tumors and cancer, including neurofibromas, optic glioma, plexiform neurofibromas. |
PubMed: 17636453, 20301288, 9639526, 27787920; OMIM: 613113 |
| NF2 |
Heterozygous pathogenic variants in NF2 are associated with Neurofibromatosis, Type 2. Individuals with this condition are at an increased risk for bilateral vestibular schwannomas, as well as other types of tumors. |
PubMed: 20301380; OMIM: 607379 |
| PMS2 |
While heterozygous pathogenic variants in PMS2 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). |
PubMed: 20301390, 22692065; OMIM: 120436 |
| PRKAR1A |
Heterozygous pathogenic variants in PRKAR1A are associated with Carney Complex. Individuals with this condition are at approximately a 10% risk to develop a schwannoma, in addition to other clinical findings. |
PubMed: 20301463; OMIM: 188830 |
| PTCH1 |
Autosomal dominant pathogenic variants in PTCH1 are associated with Nevoid Basal Cell Carcinoma syndrome (NBCSS), which increases the risk for medulloblastoma. For individuals with NBCSS caused by PTCH1 variants, this risk, though, is less than 2%. |
PubMed: 20301330; OMIM: 601309 |
| PTEN |
Autosomal dominant pathogenic variants in PTEN have been associated with Cowden syndrome, which is associated with an increased risk for brain tumors. Additional research is needed to further define this relationship. |
PubMed: 20301661; OMIM: 601728 |
| SMARCA4 |
Autosomal dominant pathogenic variants in SMARCA4 are associated with an increased risk for schwannomas and with Rhabdoid Tumor Predisposition Syndrome (RTPS). This condition is associated with an increased risk for rhabdoid tumors, such as small cell carcinoma of the ovary, hypercalcemic type and rhabdoid tumors of the kidney, as well as others. |
PubMed: 25494491, 24752781, 24658002 |
| SMARCB1 |
Heterozygous pathogenic variants in SMARCB1 are associated with familial schwannomatosis and familial rhabdoid tumor predisposition syndrome. SMARCB1 germline pathogenic variants are responsible for approximately 45% of cases of familial schwannomatosis. |
PubMed: 26941181; OMIM: 609322 |
| SMARCE1 |
There is some evidence that heterozygous pathogenic germline variants in SMARCE1 are associated with risk for meningioma. Additional research is needed to confirm this association given the small number of reported cases to date. |
PubMed: 25249420, 26803492 |
| TP53 |
Heterozygous pathogenic variants in the TP53 gene are associated with Li-Fraumeni syndrome, a condition that increases risk for many types of cancer. |
PubMed: 20301488, 26014290, 2614290; OMIM: 151623, 191170 |
| TSC1 |
Autosomal dominant pathogenic variants in TSC1 cause Tuberous Sclerosis complex, which is associated with several types of brain tumors, including subependymal nodules and subependymal giant cell astrocytomas. |
PubMed: 20301399; OMIM: 605284 |
| TSC2 |
Autosomal dominant pathogenic variants in TSC2 cause Tuberous Sclerosis complex, which is associated with several types of tumors, including subependymal nodules and subependymal giant cell astrocytomas |
PubMed: 20301399; OMIM: 191092 |
| VHL |
Heterozygous pathogenic variants in VHL cause von Hippel-Lindau (VHL) syndrome, which increases the risk for many types of cancer, including hemangioblastoma, clear cell renal cell carcinoma, pheochromocytoma, and neuroendocrine tumors. The most common location for the development of a hemangioblastoma is in the brain, but spinal cord hemangioblastomas as also common in VHL. |
PubMed: 20301636, 27114602, 25834951, 24355456 |
| LZTR1 |
Autosomal dominant pathogenic variants in LZTR1 are associated with an increased risk for schwannomatosis. |
PubMed: 24362817, 27921248, 2829512; OMIM: 615670) |
| PHOX2B |
Autosomal dominant pathogenic variants in the PHOX2B gene are associated with familial neuroblastoma. |
PubMed: 25124476, 28055978 |
| DICER1 |
Autosomal dominant mutations in DICER1 have been associated with DICER1 syndrome, a familial tumor susceptibility syndrome which includes susceptibility to many different kinds of tumors. |
PubMed: 24761742; OMIM: 606241 |
| SUFU |
Autosomal dominant pathogenic variants in SUFU have been associated with Nevoid basal cell Carcinoma syndrome (NBCCS; also called Gorlin syndrome). Individuals with NBCCS have up to a 33% risk for developing medulloblastoma, and also have ain increased risk to develop post-radiation meningioma. |
PubMed: 20301330; OMIM: 607035 |
| POT1 |
Autosomal dominant pathogenic variants in POT1 has been associated with an increased risk for melanoma and gliomas |
PubMed: 26337759, 28283772, 25482530, 24686846, 27528712, 24686849; OMIM: 606478 |
