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BreastNext is a 17 gene panel, offering more precision to identify and manage hereditary breast cancer. All genes are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for PTEN (c.-1300 to c.-745). The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) is detected by NGS and confirmed by PCR and agarose gel electrophoresis. Testing to be considered in Early-onset breast cancer patients who are <45 years of age, Triple negative (ER-/PR-/HER2/neu-) breast cancer patients who are <60 years of age, Ashkenazi Jewish descent with breast cancer at any age, Patients having Ovarian, Fallopian tube, or primary peritoneal cancer at any age or presence of BRCA1 or BRCA2 mutation in the family.
Cancer:
Breast Cancer, Ovarian Cancer
Gene:
ATM (ATM serine/threonine kinase), BARD1 (BRCA1 Associated RING Domain 1), BRCA1 (Breast cancer 1, early onset), BRCA2 (Breast cancer 2, early onset), BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1), CDH1 (Cadherin 1)
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Method:
Next-Generation Sequencing (NGS)