TEST:

Invitae Common Hereditary Cancers Panel

It is decided to initiate neoadjuvant Docetaxel + Carboplatin + Trastuzumab + Pertuzumab treatment followed by re-evaluation for surgical intervention. Patients with neurofibromatosis type NF1 present an increased risk of developing breast neoplasm with unfavorable evolution, therefore studies are needed in order to identify some predictive factors of treatment response.

"Today, the U.S. Food and Drug Administration granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test that can help detect hundreds of genetic variants associated with an elevated risk of developing certain cancers....The test, which is the first of its kind to be granted FDA marketing authorization, evaluates DNA extracted from a blood sample to identify variants in 47 genes known to be associated with an elevated risk of developing certain types of cancer....Some of the most clinically significant genes that the test identifies are: BRCA1 and BRCA2, which are genes with known associations to hereditary breast and ovarian cancer syndrome, Lynch syndrome associated genes (MLH1, MSH2, MSH6, PMS2 and EPCAM), CDH1 (mainly associated with hereditary diffuse gastric cancer, and lobular breast cancer) and STK11 (associated with Peutz-Jeghers Syndrome)."