Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations

Chiara Ghimenti, Elisa Sensi, Silvano Presciuttini, Isa Maura Brunetti, Pierfranco Conte, Generoso Bevilacqua, Maria A. Caligo

Research output: Contribution to journalArticle

79 Citations (Scopus)

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 languageEnglish
Pages (from-to)235-242
Number of pages8
JournalGenes Chromosomes and Cancer
Volume33
Issue number3
DOIs
Publication statusPublished - 2002

Fingerprint

Germ-Line Mutation
Breast
Ovarian Neoplasms
Breast Neoplasms
Genes
Single-Stranded Conformational Polymorphism
Mutation
Loss of Heterozygosity
Endometrial Neoplasms
Introns
Exons
Yeasts
Polymerase Chain Reaction
Proteins

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

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 journalArticle

Ghimenti, Chiara ; Sensi, Elisa ; Presciuttini, Silvano ; Brunetti, Isa Maura ; Conte, Pierfranco ; Bevilacqua, Generoso ; Caligo, Maria A. / Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations. In: Genes Chromosomes and Cancer. 2002 ; Vol. 33, No. 3. pp. 235-242.
@article{6a2167c84f824680a6316b9b1b80a9d4,
title = "Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations",
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.",
author = "Chiara Ghimenti and Elisa Sensi and Silvano Presciuttini and Brunetti, {Isa Maura} and Pierfranco Conte and Generoso Bevilacqua and Caligo, {Maria A.}",
year = "2002",
doi = "10.1002/gcc.1223",
language = "English",
volume = "33",
pages = "235--242",
journal = "Genes Chromosomes and Cancer",
issn = "1045-2257",
publisher = "Wiley-Liss Inc.",
number = "3",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=0036165866&partnerID=8YFLogxK

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 -