Читать книгу Constitutional Oncogenetics - Noureddine Boukhatem - Страница 35

Inheriting BRCA2 or PALB2 mutations from both parents causes specific types of Fanconi anemia. This rare condition is characterized by progressive bone marrow dysfunction, growth delay, variable congenital malformations, a high risk of leukemia and early solid tumors.

A woman and man with a confirmed BRCA2 or PALB2 mutation may therefore consider preconception genetic counseling to clarify the risks their partner has of also carrying a mutation in the same gene.

Current guidelines emphasize the importance of recognizing pancreatic cancer and the risk of prostate cancer associated with BRCA1/2 mutations. The risk of developing pancreatic cancer has been shown to be two to three times higher in patients with BRCA1 mutations and two to seven times higher in patients with BRCA2 mutations, respectively.