Research & Development

Genetic tests – BRCACombing test

Molecular Combing technology has the ability to detect large DNA rearrangements of the BRCA1 and BRCA2 genes that are linked to elevated risks of breast and ovarian cancer.

Product Status

We are currently developing a BRCACombing predisposition test for large scale genomic rearrangements that will complement the detection of point mutation and small insertions/deletions that also occur in BRCA1 and BRCA2 genes.

Disease Background

Mutations in BRCA1 and BRCA2 genes are linked to increased risks for breast and ovarian cancer and these hereditary forms account for 5 to 10% of all breast cancer cases. Incorporating genetic tests for BRCA1/BRCA2 mutations with routine mammography screening is becoming more common in order to estimate this elevated risk. Large genomic rearrangements, varying in size from 0.5 to 23.8 kb, in the BRCA1 and BRCA2 genes have been identified in a proportion of breast cancer cases. These rearrangements are dispersed across the entire gene sequence and in several countries it is estimated that they account for around 10-15% of total BRCA1/BRCA2-linked breast cancer cases.

Limitations of Current Methods

Current methods focus on the detection of point mutations and small insertions/deletions and cannot accurately detect large scale genomic rearrangements. This gap in testing capabilities can lead to a significant proportion of cases going undetected.