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Article

BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.

European journal of human genetics : EJHG - 1 Feb 2006

Vahteristo Pia, Syrjäkoski Kirsi, Heikkinen Tuomas, Eerola Hannaleena, Aittomäki Kristiina, von Smitten Karl, Holli Kaija, Blomqvist Carl, Kallioniemi Olli-Pekka, Nevanlinna Heli

Abstract excerpt

BARD1 (BRCA1-associated RING-domain 1) is a tumor suppressor whose protein product interacts with BRCA1, and in which rare somatic and germline mutations have been reported in breast, uterine, and endometrial cancers. We aimed to evaluate whether there are BARD1 genetic variants that contribute to breast cancer risk by screening the gene for germline alterations in 45 Finnish familial breast cancer patients and...

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Breast Neoplasms
DNA Mutational Analysis
Finland
Gene Frequency
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Tumor Suppressor Proteins

Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 16333312
DOI: 10.1038/sj.ejhg.5201542

Genes

BARD1
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Click a neighbor to travelStep 1 · 12 closest

BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.PMID 16333312Read ↗

Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,870 cases and 7,687 controls.Semantic proximity Read ↗

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.Semantic proximity Read ↗

The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population.Semantic proximity Read ↗

Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.Semantic proximity Read ↗

Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.Semantic proximity Read ↗

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.Semantic proximity Read ↗

Cancer predisposing BARD1 mutations in breast-ovarian cancer families.Semantic proximity Read ↗

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.Semantic proximity Read ↗

Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.Semantic proximity Read ↗

BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.Semantic proximity Read ↗

BARD1 and breast cancer in Poland.Semantic proximity Read ↗

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.Semantic proximity Read ↗

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