Definition

In addition to BRCA1, this panel also screens the ATM, BAP1, BRIP1, CDH1 and ABRAXAS1 (formerly named FAM175A) gene regions. ABRAXAS1 encodes a component of the BRCA1-A repair complex, which directs BRCA1 to sites of DNA damage. However, a well-established/confirmed disease-gene relationship for breast cancer susceptibility 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 as 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

Solid Tumor, FFPE

Description

A total of 27 gene regions are analyzed within the panel.

Inheritance

The other components of the panel (such as BRCA1 and CDH1) are inherited in an autosomal dominant manner; a distinct disease-inheritance relationship has not been established for ABRAXAS1.

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