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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Spectrum of genetic predisposition to medulloblastoma across molecular subgroups

Spectrum of genetic predisposition to medulloblastoma across molecular subgroups
Molecular subgroup Prevalence of a germline predisposition mutation (%) Genes Associated syndrome Recommendations for genetic testing and counseling
SHH 14 to 20 PTCH1 Nevoid basal cell carcinoma (Gorlin) All patients with SHH subgroup tumors*
SUFU Nevoid basal cell carcinoma (Gorlin)
TP53 Li-Fraumeni
BRCA2 Hereditary breast and ovarian cancer
PALB2 Hereditary breast and ovarian cancer
GPR161 Infantile SHH medulloblastoma
Wnt 6 to 8 APC Familial adenomatous polyposis All Wnt pathway tumors that are not known to have a CTNNB1 somatic mutation
Group 3 1 to 2 BRCA2 Hereditary breast and ovarian cancer Tumors with a molecular HRD signature and patients with a family history of BRCA-associated tumors
PALB2 Hereditary breast and ovarian cancer
Group 4 0 to 2 BRCA2 Hereditary breast and ovarian cancer Tumors with a molecular HRD signature and patients with a family history of BRCA-associated tumors
PALB2 Hereditary breast and ovarian cancer
SHH: sonic hedgehog; PTCH1: patched-1; SUFU: suppressor of fused; TP53: tumor protein p53; BRCA2: breast cancer type 2 susceptibility; PALB2: partner and localizer of BRCA2; GPR161: G protein-coupled receptor 161; Wnt: Wingless-related integration site; APC: adenomatous polyposis coli; CTNNB1: catenin beta 1; HRD: homologous recombination repair deficiency.
* Prioritize PTCH1 and SUFU testing in patients <3 years of age; TP53 testing in patients >3 years of age; BRCA2 and PALB2 testing for those who test negative for PTCH1/SUFU/TP53.
¶ Biallelic (homozygous or compound heterozygous) BRCA2 mutations are also associated with Fanconi anemia.
Adapted from: Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol 2018; 19:785.
Graphic 118357 Version 2.0

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