Table 2.

Pathogenic or likely pathogenic germline mutations detected in 9 patients.

Patient	Diagnosis *	Gene	Mutation	Associated Mendelian Disease	Mendelian Inheritance	ACMG-Based Classification [10]	HMP
OM161	Astrocytoma, IDH-mutant, WHO grade 4	TP53	p.R209Q	Li-Fraumeni syndrome	Autosomal Dominant	Likely pathogenic	No
CL0095	Astrocytoma, IDH-mutant, WHO grade 4	MUTYH	p.G396D	MUTYH associated polyposis	Autosomal Dominant	Likely pathogenic	No
CL0101	Astrocytoma, IDH-mutant, grade 4	BLM	p.Q548X	Bloom Syndrome	Autosomal Dominant	Pathogenic	No
CL0248	Astrocytoma, IDH-mutant, WHO grade 3	RET	p.K666N	Medullary thyroid carcinoma	Autosomal Dominant	Pathogenic/Likely pathogenic	No
CL0301	Astrocytoma, IDH-mutant, WHO grade 4	ERCC6	p.R670W	Cockayne syndrome	Autosomal Dominant	Likely pathogenic	Yes
CL0326	Astrocytoma, IDH-mutant, WHO grade 3	MITF	p.E419K	Susceptibility to cutaneous melanomaWaardenburg syndrome	Risk factorAutosomal Dominant	Risk factor/Likely pathogenic for cutaneous melanoma	No
CL0332	Astrocytoma, IDH-mutant, WHO grade 4	MUTYH	p.G396D	MUTYH associated polyposis	Autosomal Dominant	Likely pathogenic	Yes
NCI0391	Gliosarcoma, IDH-wildtype, WHO grade 4	BRIP1	p.T997fs	Fanconi Anemia	Autosomal Dominant	Pathogenic	No
NCI0392	Glioblastoma, IDH-wildtype, WHO grade 4	MSH2	c.1386+1G>A	Lynch syndrome	Autosomal Dominant	Pathogenic	Yes

Notes: * Diagnosis is based on “The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy” (cIMPCT-NOW update 6). Patients had multiple recurrence, the diagnosis in the table reflects the highest World Health Organization (WHO) grade. Abbreviations: WHO: World Health Organization; ACMG: American College of Medical Genetics; HMP: hypermutator phenotype defined by more than 10 mutations per Mb.