Cancer Genetics

hereditary cancer syndrome

A hereditary cancer syndrome is a family pattern in which a strong tendency toward certain cancers is passed down through the generations. Imagine being dealt a hand of cards where one is already turned face-up against you: you have not lost the game, but you start at a disadvantage that the rest of the family shares.

These syndromes arise when a person inherits a germline mutation, a change present in the egg or sperm and therefore in every cell of the body, usually in a tumor-suppressor gene or a DNA-repair gene. Because every cell already carries the first hit, fewer additional events are needed for cancer to develop. Many of these conditions are inherited in an autosomal dominant pattern.

Well-known examples include Lynch syndrome (colorectal and other cancers), Li-Fraumeni syndrome (TP53), and hereditary breast and ovarian cancer linked to BRCA1 and BRCA2. A syndrome raises lifetime risk and often shifts cancers to younger ages or multiple sites, but it is a predisposition, not a certainty; identifying one mainly guides screening and prevention through genetic counseling.

Only a minority of cancers are part of a hereditary syndrome; most are sporadic, from somatic mutations acquired over a lifetime. Family history is a clue, not a verdict.

Also called
inherited cancer predisposition syndrome遗传性肿瘤易感综合征遺傳性腫瘤易感症候群