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 |
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