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Background The use of multiplex ligation-dependent probe amplification (MLPA) to detect large scale rearrangements is now a standard component of BRCA1 and BRCA2 gene testing in the clinical setting. With the cost of full Sanger sequencing up to 4 times higher than the cost of MLPA, it is important not only to determine the prevalence of these mutations but to ascertain the probability that a family may harbour a large deletion or rearrangement in the BRCA1 and BRCA2 genes. Here we examine the incidence and clinical associations of genomic rearrangements in the BRCA1 and BRCA2 genes in a cohort of index cases from high risk breast and ovarian cancer families recruited from familial cancer centres (FCC).

The contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort