If you or a family member carry a gene mutation, or cancer runs in your family, find out what it means, who should be tested, and how risk can be managed.
This map is for relatives of someone with an inherited mutation, or a strong family history of cancer.
Tap any topic on the map to read about it. Topics with an arrow open more topics.
When one person has a mutation, relatives can be tested for that same mutation (cascade testing). It is simple and much cheaper than the first test.
Start with first-degree relatives: parents, brothers, sisters and children. Then aunts, uncles and cousins on that side.
Bring a copy of your relative's report; the laboratory needs the exact mutation.
A relative who tests negative has an average risk and can follow normal screening.
Most cancer mutations are dominant: one copy is enough. Each child has a 1 in 2 chance, whether the parent is the mother or the father.
It does not skip generations, although it can seem to, if a carrier never developed cancer.
A few (such as MUTYH) are recessive: both copies must carry the mutation for a high risk. Brothers and sisters then have a 1 in 4 chance.
For mutations that cause cancer in adults (BRCA, Lynch, PALB2), testing is usually done from 18, so the young person can decide for themselves.
For conditions that start in childhood, testing is done early so screening can begin: FAP (around 10), MEN2 (at birth or early childhood), Li-Fraumeni and VHL.
Tap a situation on the map.
Mutation
Main screening
BRCA1, BRCA2, PALB2
Breast MRI from 25 to 30, mammogram from 30; ovaries removed at 35 to 45; PSA for men from 40
Lynch
Colonoscopy every 1 to 2 years from 20 to 35, depending on the gene