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1.3. Indications for genetic testing

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The 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.

Constitutional Oncogenetics

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