Table 2.

Putative deleterious mutations identified in 6 of 48 families

Subject#	Gene	Alteration	Entrez SNP	Type	Group	Proband; family history
5	PMS2	c.2404C>T R802X	-	nonsense	2	Gliosarcoma brain tumor @ 9y; sibling with similar
	PMS2	c.1866G>T M622V	-	missense		cancer in adolescence
9	SMARCB1	c.233-1G>C	-	splice-site	2	Medulloblastoma @ 2y, atypical encapsulated neuroma of tongue @ 12y; sibling with astrocytoma @ 3y and ionizing radiation sensitivity
23	SMARCB1	c.859G>T Q287X	-	nonsense	2	Soft tissue rhabdoid @ 4m; sibling ATRT @ 1y; positive family history
34	TP53	c.96+50del G	-	frameshift	1	Osteosarcoma @ 14y, breast cancer @ 25y; no
	FANCD2	c.1367T>G L456R	rs35782247	missense homozygo us		family history
46	TP53	c.614A>G Y205C	-	missense	2	Osteosarcoma @ 15y; sibling embryonal sarcoma liver @ 13y
48	TP53	c.659A>G Y220C	-	missense	1	Brainstem GBM @ 4y, choroid plexus papilloma @ 4y

All mutations were heterozygous unless noted. Group = eligibility group.

GBM = glioblastoma multiforme.

Reference sequences utilized for mutation notation - PMS2 cDNA (NM_000535), protein (NP_000526); SMARCB1 cDNA (NM_003073), protein (NP_003064); TP53 cDNA (NM_000546), protein (NP_000537); FANCD2 cDNA (NM_033084), protein (NP_149075)