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Lyudmila Georgieva, Stephanie Carpenter, Natalie Milner, Venu Pullabhatla, James Reid, Kay Wiebrands, Aysel Heckel, Graham Speight



Loss-of-function mutations in tumour suppressor genes BRCA1 and BRCA2 have been implicated in an increased risk for breast and ovarian cancer1,2. Screening for germline mutations in these genes allows research into familial risk of developing breast and ovarian cancer. In addition, assessment of somatic mutations in tumour samples can help research into tumour development, drug response and the development of new therapies.

A wide range of genetic variations are associated with breast and ovarian cancer, including single nucleotide variants (SNVs), small insertions/deletions (indels) and copy-number variations (CNVs). For more than a decade, the gold standard for mutational screening has been Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA), imposing significant time and cost burden.

Advances in next-generation sequencing (NGS) now allows for the reliable detection of CNVs in addition to SNVs/indels in a single assay.

In this study, we tested the capability of the SureSeq™ Breast Cancer + CNV Panel to overcome the challenges currently experienced and provide a possible future single assay to be developed for breast and ovarian cancer.

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