2004 ORAL Novel breast cancer susceptibility loci identified in west Swedish families and candidate gene analysis

Bergman, Annika; Mori, Yusaku; Wernersson, Jonny; Berggren, Jonna; Martinsson, T.; Nilsson, Staffan; Wallgren, Arne; Wahlström, Jan; Karlsson, P; Nordling, Margareta

doi:10.1016/s1359-6349(07)70766-8

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, our series was not enriched in hereditary cancers, and even less in BRCAx BCs. Determination of tumor or germ-line genomic profiles of BRCAx BCs has been done to search for new BC susceptibility genes using classical CGH, and more recently aCGH and SNP arrays (Kainu et al, 2000;Hedenfalk et al, 2003;Gronwald et al, 2005;Maguire et al, 2005;Bergman et al, 2007;Gonzalez-Neira et al, 2007;Mangia et al, 2008;Oldenburg et al, 2008;Rosa-Rosa et al, 2009). Using low-resolution CGH, a loss of 2q (and four other regions) in BRCAx tumors has been reported (Mangia et al, 2008).…”

Section: Bard1 Homozygous Deletion In Familial Breast Cancermentioning

confidence: 99%

BARD1 homozygous deletion, a possible alternative to BRCA1 mutation in basal breast cancer

Sabatier

Adélaı̈de

Finetti

et al. 2010

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

Hereditary breast cancers (BCs) are incompletely explained by BRCA genes abnormalities, as ∼70% of them are not associated with known genetic alterations. Array-based comparative genomic hybridization (aCGH) of tumors provides an opportunity for identifying new BC susceptibility genes. By analyzing our database of high-resolution aCGH profiles of 330 BCs, we identified a case with homozygous deletion of the entire BARD1 gene. The BARD1-deleted case displayed a familial history of BC and other clinico-pathological features of BRCAness, and a 17% probability of BRCA1/2 mutation. Analysis of constitutional DNA showed a BARD1 germline heterozygous deletion without BRCA1/2 mutation. Gene expression analysis using DNA microarrays classified the tumor as basal-like, with very low BARD1 and ID4 expression, but high expression of BRCA1, RAD51, PARP1, CHEK1, and FANCA. The tumor displayed a BRCA1-mutated expression profile. This is the first report of a non-BRCA1/2-mutated BC with somatic homozygous and germ-line heterozygous deletion of the entire BARD1 gene. This observation suggests that BARD1 might be a BC susceptibility gene that follows the Knudson rule. Identification of BARD1 deletion could have clinical applications including screening for hereditary forms. © 2010 Wiley-Liss, Inc.

show abstract