Hereditary Cancer and Genetic Testing

Other medical concerns for people with inherited PALB2 mutations

A rare and serious childhood disease called Fanconi Anemia (FA) can occur in children who inherit a PALB2 mutation from both their mother and their father. Children who have FA have blood problems, physical and developmental issues, and an increased risk of cancers such as leukemia and lymphoma. Children with FA may also develop cancers of the head, neck, skin, gastrointestinal tract or genital tract cancers. Both parents must have an PALB2 mutation for a child to have Fanconi anemia. Couples where one partner has a known PALB2 mutation may wish to speak with a genetic counselor about testing the other partner prior to having children.

There are options using assisted reproduction technology and preimplantation genetic diagnosis for parents to select embryos that are free of inherited PALB2 mutations.