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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
Author(s) -
Gad Sophie,
Bièche Ivan,
Barrois Michel,
Casilli Federica,
PagesBerhouet Sabine,
Dehainault Catherine,
GauthierVillars Marion,
Bensimon Aaron,
Aurias Alain,
Lidereau Rosette,
Paillerets Brigitte Bressacde,
Tosi Mario,
Mazoyer Sylvie,
StoppaLyonnet Dominique
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9148
Subject(s) - biology , gene , genetics , intron , exon , alu element , microbiology and biotechnology , ovarian cancer , cancer , genome , human genome
Abstract 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. © 2003 Wiley‐Liss, Inc.