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Table 1 Previously reported cases of brain tumors associated with BRCA2 mutations

From: Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Tumor

Age (yrs)

Sex

BRCA2 mutation I

BRCA mutation 2

Localization

Note

Refs

MB, WT

1.5

F

-

-

NR

-

[22]

MB

3.5

F

c.2830A > T

c.7964A > G

Hemispheric

-

[19, 30]

BT

3

F

7691/insAT

9900/insA

NR

-

[32]

PFT

4.9

M

c.5946delT

9435 T > A

Midline

Ashkenazi Jewish congenital anomalies Sibling of the following

[23, 24]

MAs

2

M

c.5946delT

9435 T > A

Cerebellum

Ashkenazi Jewish Sibling of the previous

[24]

exon 24

MB

4.5

F

c.5946delT

c.658_659delGT

Cerebellum

Mixed Ashkenazi Jewish

[24]

MB

2.5

F

5301insA

c.7469 T > C

NR

Latin American

[24]

MB

3.5

F

c.3922G > T

c.9196C > T

NR

African American

[24]

MB

2.3

M

c.658_659delGT

8447 T > A

Hemispheric

Sibling of the following

[16]

MB, WT (15 mo)

4.3

M

c.658_659delGT

8447 T > A

Hemispheric

Sibling of the previous

[16]

MB

2.9

M

-

-

Hemispheric

-

[20]

GB, WT (3.5 yrs)

9

M

c.658_659delGT

c.5645C > A

Cerebellum

Sibling of the following

[27]

MB, WT (7mo) ALL-B (10 yrs)

5.7

M

c.658_659delGT

c.5645C > A

Cerebellum

Sibling of the previous

[27]

PFT

1

F

1548del4

1548del4

Cerebellum

Consanguinity VACTERL syndrome

[25]

MB

3.1

F

c.5946delT

c.9196C > T

Cerebellum

VACTERL syndrome

[17]

PNET or HGG

1.3

M

c.5946delT

c.658_659delGT

Intramedullary

Sibling of the following

[21]

MB

1.7

M

c.5946delT

c.658_659delGT

Hemispheric

Sibling of the previous

[21]

MB

2

NR

c.3264dup

c.IVS19 + 3A > G (c. 8487 + 3A > G)

NR

-

[21]

MB, WT (8 mo) AML (24 mo)

2.9

F

-

-

Hemispheric

Consanguinity

[18, 31]

MB

13

M

c.1114A > C

c.1114A > C

Cerebellum

Desmoplastic histology

[26]

MB WT (4 yrs)

6

F

-

-

Hemispheric

Consanguinity

[28]

MB WT(15 mo)

2.9

F

c.658_659delGT

c.2944delA

MB1: Hemispheric; MB2: vermian

MB1, MB2: SHH subtype

Current report

  1. MB Medulloblastoma, WT Wilms Tumor, BT Brain Tumor, PFT Posterior Fossa Tumor, MAs Multiple Astrocitomas, GB Glioblastoma, ALL-B Acute Lymphatic Leukemia – B, PNET Primitive Neuroectodermal Tumor, HGG High Grade Glioma, AML Acute Myeloid Leukemia, NR not reported, yrs Years, mo Months
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