Cancer Presentations

Presentations where the chief concern is a cancer diagnosis that raises suspicion of a hereditary cancer syndrome: young age at presentation, multiple primary tumors in the same patient, sentinel tumors that are nearly always heritable (adrenocortical carcinoma in a child, bilateral retinoblastoma, paraganglioma), and family clustering across generations. Reasoning is consistently risk-locus first (which gene panel is indicated by the pattern), then tumor pattern (which combinations of cancers fit which syndrome), then phenotype outside the tumor (skin, dysmorphology, endocrine). The discipline that matters most is the three-generation pedigree taken before the panel is sent; the panel is only as useful as the question it answers.