Table 1.
Family history | Heritability | First mutation | Second mutation | Phenotype* | Distribution | |
---|---|---|---|---|---|---|
Familial | present | heritable | inherited germline | somatic | bilateral or unilateral | 10% |
Nonfamilial | absent | heritable | new-onset germline | somatic | bilateral or unilateral | 25% |
Sporadic | absent | nonheritable | somatic | somatic | unilateral | 65% |
Germline mutation can manifest as no tumor (carrier status), unilateral, or bilateral tumors. While the majority of unilateral cases (85%) are sporadic in origin, 15% of unilateral tumors can be due to underlying germline mutation.