Читать книгу Constitutional Oncogenetics - Noureddine Boukhatem - Страница 20
1.3. Indications for genetic testing
ОглавлениеThe NCCN also now recognizes that multigene panel testing for hereditary forms of cancer can be more efficient and cost effective. It has been shown that 7% of patients with a previously uninformative genetic test had a pathogenic mutation with a multigene panel test.
As such, a thorough family history should not be limited to breast cancer and should include the identification of cancers of other organs that may be part of a breast cancer syndrome or other inherited cancer syndromes.
In patients whose personal or family history suggests more than one hereditary cancer syndrome, or in patients with such a history who have tested negative for a single gene, the NCCN suggests that multigene panel tests should be offered.
NOTE.– Inheriting a BRCA2 or PALB2 mutation from both parents causes specific types of Fanconi anemia. This rare condition is characterized by progressive bone marrow dysfunction, growth delay, variable birth defects, and a high risk of leukemia and early onset solid tumors.
A male or female with a confirmed BRCA2 or PALB2 mutation may therefore consider preconception genetic counseling to clarify the risks in case their partner also carries a mutation in the same gene.
Several organizations have recommended that the BRCA1/2 germline mutation test be offered to all women with epithelial ovarian, tubal or peritoneal cancer, regardless of their histotype, age or family history.