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Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

✍ Scribed by Sophie Gad; Ivan Bièche; Michel Barrois; Federica Casilli; Sabine Pages-Berhouet; Catherine Dehainault; Marion Gauthier-Villars; Aaron Bensimon; Alain Aurias; Rosette Lidereau; Brigitte Bressac-de Paillerets; Mario Tosi; Sylvie Mazoyer; Dominique Stoppa-Lyonnet

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 173 KB
Volume: 21
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9148

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✦ Synopsis

A large germline deletion removing exons 1 to 22 of the BRCA1 gene has been previously detected using quantitative PCR based methods (QMPSF and real time PCR gene dosage assay) in a woman affected with breast and ovarian cancer. Here, we report its characterisation by using colour bar code on combed DNA of the BRCA1 region. The 5' boundary is located in a Alu Y sequence in NBR1 intron 18 whereas the 3' boundary is located in a Alu Sc sequence in BRCA1 intron 22. This 161 kb deletion encompassing the NBR1, ΨBRCA1, NBR2 and BRCA1 genes is the largest BRCA1 deletion reported so far. No specific phenotype was associated with the hemizygosity of these four genes.

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