Abstract
BARD1 (BRCA1 -associated RING domain) was identified by yeast two-hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of BARD1 have been detected in sporadic breast, ovarian, and endometrial cancers. The present study represents the first description of BARD1 germline mutations in hereditary breast and breast/ovarian cancer patients. We analyzed the BARD1 gene in 40 families with hereditary breast and breast/ovarian cancer, tested negative for BRCA1 and BRCA2 mutations. A mutational analysis by PCR-SSCP on the coding region and the exon-intron splice boundaries of the BARD1 gene yielded four different germline mutations. A group of 20 patients diagnosed with sporadic breast cancer below the age of 40 was also examined and only one germline mutation was found. A study of loss of heterozygosity at the BARD1 locus in neoplastic tissues from patients with BARD1 germline mutations was carried out. In all cases, we were unable to find any evidence for allelic deletions. The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed.
| Original language | English |
|---|---|
| Pages (from-to) | 235-242 |
| Number of pages | 8 |
| Journal | Genes Chromosomes and Cancer |
| Volume | 33 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2002 |
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ASJC Scopus subject areas
- Cancer Research
- Genetics
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Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations. / Ghimenti, Chiara; Sensi, Elisa; Presciuttini, Silvano; Brunetti, Isa Maura; Conte, Pierfranco; Bevilacqua, Generoso; Caligo, Maria A.
In: Genes Chromosomes and Cancer, Vol. 33, No. 3, 2002, p. 235-242.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations
AU - Ghimenti, Chiara
AU - Sensi, Elisa
AU - Presciuttini, Silvano
AU - Brunetti, Isa Maura
AU - Conte, Pierfranco
AU - Bevilacqua, Generoso
AU - Caligo, Maria A.
PY - 2002
Y1 - 2002
N2 - BARD1 (BRCA1 -associated RING domain) was identified by yeast two-hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of BARD1 have been detected in sporadic breast, ovarian, and endometrial cancers. The present study represents the first description of BARD1 germline mutations in hereditary breast and breast/ovarian cancer patients. We analyzed the BARD1 gene in 40 families with hereditary breast and breast/ovarian cancer, tested negative for BRCA1 and BRCA2 mutations. A mutational analysis by PCR-SSCP on the coding region and the exon-intron splice boundaries of the BARD1 gene yielded four different germline mutations. A group of 20 patients diagnosed with sporadic breast cancer below the age of 40 was also examined and only one germline mutation was found. A study of loss of heterozygosity at the BARD1 locus in neoplastic tissues from patients with BARD1 germline mutations was carried out. In all cases, we were unable to find any evidence for allelic deletions. The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed.
AB - BARD1 (BRCA1 -associated RING domain) was identified by yeast two-hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of BARD1 have been detected in sporadic breast, ovarian, and endometrial cancers. The present study represents the first description of BARD1 germline mutations in hereditary breast and breast/ovarian cancer patients. We analyzed the BARD1 gene in 40 families with hereditary breast and breast/ovarian cancer, tested negative for BRCA1 and BRCA2 mutations. A mutational analysis by PCR-SSCP on the coding region and the exon-intron splice boundaries of the BARD1 gene yielded four different germline mutations. A group of 20 patients diagnosed with sporadic breast cancer below the age of 40 was also examined and only one germline mutation was found. A study of loss of heterozygosity at the BARD1 locus in neoplastic tissues from patients with BARD1 germline mutations was carried out. In all cases, we were unable to find any evidence for allelic deletions. The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed.
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UR - http://www.scopus.com/inward/citedby.url?scp=0036165866&partnerID=8YFLogxK
U2 - 10.1002/gcc.1223
DO - 10.1002/gcc.1223
M3 - Article
C2 - 11807980
AN - SCOPUS:0036165866
VL - 33
SP - 235
EP - 242
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
SN - 1045-2257
IS - 3
ER -