Deletion of Exons 1a-2 of BRCA1: A Rather Frequent Pathogenic Abnormality

Ans van den Ouweland, Winand Dinjens, Lambert Dorssers, Monique Plandsoen, Hennie Brüggenwirth, Caroline Hermans, Margriet Collee, SA Joosse, JNR Terlouw-Kromosoeto, PM Nederlof

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Women carrying a pathogenic mutation in either BRCA1 or BRCA2 have a major risk of developing breast and/or ovarian cancer. The majority of mutations in these genes are small point mutations. Since the development of multiplex ligation-dependent probe amplification, an increasing number of large genomic rearrangements have been detected. Here, we describe the characterization of pathogenic deletions of exons 1a-2 of BRCA1 in six families using loss of heterozygosity, array comparative genomic hybridization, and sequence analyses. Two families harbor a 37 kb deletion starting in intron 2 of psi BRCA1, encompassing NBR2, and exons 1a-2 of BRCA1, while the other four families have an 8 kb deletion with breakpoints in intron 2 of NBR2 and intron 2 of BRCA1. This observation, together with the previously described families with exon 1a-2 deletions of BRCA1, demonstrates that this type of deletions is relatively frequent in breast/ovarian cancer families.
Original languageUndefined/Unknown
Pages (from-to)399-406
Number of pages8
JournalGenetic Testing and Molecular Biomarkers
Issue number3
Publication statusPublished - 2009

Research programs

  • EMC MGC-02-82-01
  • EMC MGC-02-96-01
  • EMC MM-03-24-01

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