Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

Weber, Christine A. M.; Krönke, Nicole; Volk, Valery; Auber, Bernd; Förster, Alisa; Trost, Detlef; Geffers, Robert; Esmaeilzadeh, Majid; Lalk, Michael; Nabavi, Arya; Samii, Amir; Krauss, Joachim K.; Feuerhake, Friedrich; Hartmann, Christian; Wiese, Bettina; Brand, Frank; Weber, Ruthild G.

doi:10.1186/s40478-023-01689-5

Table 2 Clinical characteristics of glioma patients carrying rare POLE or POLD1 variants predicted to be deleterious

From: Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

Patient ID	Gene	Amino acid change	Gender	Age at Dx^a	P/ R/ M	Localization	Histology	CNS WHO grade	Molecular characteristics	Overall survival^b	Other tumors in patient/family
Glioma patients from 10 tumor families carrying rare *POLE* or *POLD1* germline variants
Fam011-III.1/M1	POLE	p.(R47W)	Female	51	P	Right insula	Glioblastoma	4	IDH-WT	20	CRC
Fam011-III.1/M1			Female	53	M	Spinal cord	Gliosarcoma	4	IDH-WT	20
Fam011-II.2			Female	62	P	Left FT	Astrocytoma	3	-	137^d
Fam011-II.2			Female	65	R	Left FT	Glioblastoma	4	-	137^d
WI70-III.1	POLE	p.(R259H)	Male	75	P	Right FP	Glioblastoma	4	IDH-WT	14	Brain tumor NOS, SCLC
WI127-III.2	POLE	p.(R259H)	Male	45	P	Left FP	Glioblastoma	4	IDH-WT	26	Brain tumor NOS
WI161-II.1	POLE	p.(R260Q)	Male	67	P	Left frontal	Glioblastoma	4	IDH-WT	18	CRC
WI207-III.1	POLE	p.(T457M)	Male	35	P	Right parietal	Astrocytoma	2	IDH-mut	2^d	Meningioma NOS
WI140-III.1	POLE	p.(R1082H)	Male	58	P	Left basal ganglia	Glioblastoma	4	IDH-WT	36^d	CRC
WI69-III.1	POLE	p.(A1420V)	Female	57	P	Left temporal	Glioblastoma	4	IDH-WT	12^d	BC, PC, CRC?
WI104-III.1	POLE	p.(R2165H)	Male	23	P	Left frontal	Astrocytoma	3	-	157^d	Meningioma CNS WHO grade 2, oligodendroglioma CNS WHO grade 2 and 3
WI104-III.1	POLE	p.(R2165H)	Male	34	R	Left frontal	Astrocytoma	3	IDH-mut	157^d
WI27-III.1	POLD1	p.(A145T)	Female	28	P	Right central	Astrocytoma	2	-	165^d	BC, UC
WI27-III.1	POLD1	p.(A145T)	Female	36	R	Right frontal	Astrocytoma	3	IDH-mut	165^d	BC, UC
WI40-II.1	POLD1	p.(A152V)	Male	29	P	Left frontal	Oligodendroglioma	2	IDH-mut, 1p/19q-codel	60^d	Optic nerve glioma
Glioblastoma with a rare *POLE* variant from a patient who developed a spinal metastasis
M2^c	POLE	p.(I2255F)	Male	62	P	Right temporal	Glioblastoma	4	IDH-WT	8	NA
M2^c	POLE	p.(I2255F)	Male	63	M	Spinal cord	Gliosarcoma	4	IDH-WT	8	NA
Oligodendroglioma patient without family history of cancer carrying a rare *POLD1* variant
WII-40-II.1	POLD1	p.(R849H)	Female	34	P	Right frontal	Oligodendroglioma	3	IDH-mut, 1p/19q-codel	3^d	-

NCBI reference sequence NM_006231.4 (POLE) and NM_002691.4 (POLD1). BC, breast cancer; CNS, central nervous system; codel, codeleted; CRC, colorectal cancer; Dx, diagnosis; FP, frontoparietal; FT, frontotemporal; M, metastasis; mut, mutated; NA, not available; NOS, not otherwise specified; P, primary tumor; PC, prostate cancer; R, recurrent tumor; SCLC, small cell lung cancer; UC, uterus cancer; WHO, World Health Organization; WT, wildtype
^aYears
^bMonths
^cThe POLE variant was detected in the primary tumor and the spinal metastasis of the patient (non-neoplastic DNA was not available)
^dUntil last follow up

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ISSN: 2051-5960

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