Relevant patient and family history in children with pathogenic germline mutations
| Patient . | Sex . | Age . | Pathologic Diagnosis . | Germline . | LOH in Tumor . | Other Patient Hx . | Significant Family Hx (# of affected members) . |
|---|---|---|---|---|---|---|---|
| 3 | F | 2 | Medulloblastoma | BRCA2 fs + fs (biallelic) | N/A | Fanconi anemia | Siblings: neuroblastoma (x1), medulloblastoma + Wilm’s tumor (x1) |
| 4 | M | 5 | Medulloblastoma | PALB2 non | yes | None | Maternal lineage: breast ca (x1); Paternal lineage: breast ca (x1), liver ca (x2); Father negative for PALB2 mutation |
| 5 | M | 2 | Medulloblastoma | SUFU fs | yes | None | Maternal lineage: glioblastoma (x1) |
| 7 | M | 9 | Medulloblastoma | TP53 sub | yes | None | None |
| 9 | M | 3 | Choroid plexus carcinoma | TP53 sub, MSH6 fs | TP53 yes MSH6 no | None | None; Parents and sibling negative for TP53 mutation; Father positive for MSH6 mutation |
| 13 | M | 4 | Glioblastoma | MUTYH non | no | None | None |
| 18 | M | 10 | Glioblastoma | PMS2 non + del (biallelic) | N/A | Café-au-lait macules | Paternal lineage: café-au-lait macules (x2) |
| 19 | F | 7 | High-grade astrocytoma | TP53 sub | yes | None | Maternal lineage: early-onset breast ca (x2) |
| 20 | M | 15 | High-grade astrocytoma | MUTYH splice | yes | Medulloblastoma at age 5 | None |
| 23 | M | 12 | Diffuse astrocytoma | ERCC2 splice | no | None | None |
| 30 | F | 5 | Uveal ganglioneuroma | PTEN non | yes | Autism, macrocephaly, vascular malformations (brain, arm, foot) | Maternal lineage: early-onset uterine cancer (x4) |
| Patient . | Sex . | Age . | Pathologic Diagnosis . | Germline . | LOH in Tumor . | Other Patient Hx . | Significant Family Hx (# of affected members) . |
|---|---|---|---|---|---|---|---|
| 3 | F | 2 | Medulloblastoma | BRCA2 fs + fs (biallelic) | N/A | Fanconi anemia | Siblings: neuroblastoma (x1), medulloblastoma + Wilm’s tumor (x1) |
| 4 | M | 5 | Medulloblastoma | PALB2 non | yes | None | Maternal lineage: breast ca (x1); Paternal lineage: breast ca (x1), liver ca (x2); Father negative for PALB2 mutation |
| 5 | M | 2 | Medulloblastoma | SUFU fs | yes | None | Maternal lineage: glioblastoma (x1) |
| 7 | M | 9 | Medulloblastoma | TP53 sub | yes | None | None |
| 9 | M | 3 | Choroid plexus carcinoma | TP53 sub, MSH6 fs | TP53 yes MSH6 no | None | None; Parents and sibling negative for TP53 mutation; Father positive for MSH6 mutation |
| 13 | M | 4 | Glioblastoma | MUTYH non | no | None | None |
| 18 | M | 10 | Glioblastoma | PMS2 non + del (biallelic) | N/A | Café-au-lait macules | Paternal lineage: café-au-lait macules (x2) |
| 19 | F | 7 | High-grade astrocytoma | TP53 sub | yes | None | Maternal lineage: early-onset breast ca (x2) |
| 20 | M | 15 | High-grade astrocytoma | MUTYH splice | yes | Medulloblastoma at age 5 | None |
| 23 | M | 12 | Diffuse astrocytoma | ERCC2 splice | no | None | None |
| 30 | F | 5 | Uveal ganglioneuroma | PTEN non | yes | Autism, macrocephaly, vascular malformations (brain, arm, foot) | Maternal lineage: early-onset uterine cancer (x4) |
Abbreviations: hx, history; sub, missense mutation; non, nonsense mutation; fs, frameshift mutation; splice, splice site mutation; LOH, loss of heterozygosity; del, deletion; ca, cancer
Relevant patient and family history in children with pathogenic germline mutations
| Patient . | Sex . | Age . | Pathologic Diagnosis . | Germline . | LOH in Tumor . | Other Patient Hx . | Significant Family Hx (# of affected members) . |
|---|---|---|---|---|---|---|---|
| 3 | F | 2 | Medulloblastoma | BRCA2 fs + fs (biallelic) | N/A | Fanconi anemia | Siblings: neuroblastoma (x1), medulloblastoma + Wilm’s tumor (x1) |
| 4 | M | 5 | Medulloblastoma | PALB2 non | yes | None | Maternal lineage: breast ca (x1); Paternal lineage: breast ca (x1), liver ca (x2); Father negative for PALB2 mutation |
| 5 | M | 2 | Medulloblastoma | SUFU fs | yes | None | Maternal lineage: glioblastoma (x1) |
| 7 | M | 9 | Medulloblastoma | TP53 sub | yes | None | None |
| 9 | M | 3 | Choroid plexus carcinoma | TP53 sub, MSH6 fs | TP53 yes MSH6 no | None | None; Parents and sibling negative for TP53 mutation; Father positive for MSH6 mutation |
| 13 | M | 4 | Glioblastoma | MUTYH non | no | None | None |
| 18 | M | 10 | Glioblastoma | PMS2 non + del (biallelic) | N/A | Café-au-lait macules | Paternal lineage: café-au-lait macules (x2) |
| 19 | F | 7 | High-grade astrocytoma | TP53 sub | yes | None | Maternal lineage: early-onset breast ca (x2) |
| 20 | M | 15 | High-grade astrocytoma | MUTYH splice | yes | Medulloblastoma at age 5 | None |
| 23 | M | 12 | Diffuse astrocytoma | ERCC2 splice | no | None | None |
| 30 | F | 5 | Uveal ganglioneuroma | PTEN non | yes | Autism, macrocephaly, vascular malformations (brain, arm, foot) | Maternal lineage: early-onset uterine cancer (x4) |
| Patient . | Sex . | Age . | Pathologic Diagnosis . | Germline . | LOH in Tumor . | Other Patient Hx . | Significant Family Hx (# of affected members) . |
|---|---|---|---|---|---|---|---|
| 3 | F | 2 | Medulloblastoma | BRCA2 fs + fs (biallelic) | N/A | Fanconi anemia | Siblings: neuroblastoma (x1), medulloblastoma + Wilm’s tumor (x1) |
| 4 | M | 5 | Medulloblastoma | PALB2 non | yes | None | Maternal lineage: breast ca (x1); Paternal lineage: breast ca (x1), liver ca (x2); Father negative for PALB2 mutation |
| 5 | M | 2 | Medulloblastoma | SUFU fs | yes | None | Maternal lineage: glioblastoma (x1) |
| 7 | M | 9 | Medulloblastoma | TP53 sub | yes | None | None |
| 9 | M | 3 | Choroid plexus carcinoma | TP53 sub, MSH6 fs | TP53 yes MSH6 no | None | None; Parents and sibling negative for TP53 mutation; Father positive for MSH6 mutation |
| 13 | M | 4 | Glioblastoma | MUTYH non | no | None | None |
| 18 | M | 10 | Glioblastoma | PMS2 non + del (biallelic) | N/A | Café-au-lait macules | Paternal lineage: café-au-lait macules (x2) |
| 19 | F | 7 | High-grade astrocytoma | TP53 sub | yes | None | Maternal lineage: early-onset breast ca (x2) |
| 20 | M | 15 | High-grade astrocytoma | MUTYH splice | yes | Medulloblastoma at age 5 | None |
| 23 | M | 12 | Diffuse astrocytoma | ERCC2 splice | no | None | None |
| 30 | F | 5 | Uveal ganglioneuroma | PTEN non | yes | Autism, macrocephaly, vascular malformations (brain, arm, foot) | Maternal lineage: early-onset uterine cancer (x4) |
Abbreviations: hx, history; sub, missense mutation; non, nonsense mutation; fs, frameshift mutation; splice, splice site mutation; LOH, loss of heterozygosity; del, deletion; ca, cancer
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