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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