OncoGenetics Extended Breast-Ovarian Cancer Panel
Definition
In this panel, besides BRCA1, the ATM, BAP1, BRIP1, CDH1 and ABRAXAS1 (formerly named FAM175A) gene regions are also screened. ABRAXAS1 encodes a component of the BRCA1-A repair complex that directs BRCA1 to sites of DNA damage. However, a well-established, confirmed disease-gene relationship with breast cancer predisposition has not yet been established for ABRAXAS1; a case-control study found no statistically significant association between its variants and breast cancer risk. For this reason, the gene should currently be regarded as a "candidate gene under investigation," not a proven breast cancer gene.
Gene/region examined
ABRAXAS1(FAM175A), ATM, BAP1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, ERBB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, PALB2, PIK3CA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51, SMARCA4, TP53, XRCC2
Method
Next Generation Sequencing
Accepted sample types
Blood (EDTA)
Description
A total of 27 gene regions are analyzed within the panel.
Inheritance
The panel's other components (such as BRCA1, CDH1) are inherited in an autosomal dominant manner; a specific disease-inheritance relationship has not been established for ABRAXAS1.