ArticleJournal of human genetics2004
Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.
Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.Cancers · 2021Review
- BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.Colombia medica (Cali, Colombia) · 2019Article
- Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.Molecular biology reports · 2019Article
- BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.Molecular genetics & genomic medicine · 2019Article
- Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.Cancer science · 2018Article
- Advances in ligase chain reaction and ligation-based amplifications for genotyping assays: Detection and applications.Mutation research. Reviews in mutation research · 2017Review
- Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer.Journal of breast cancer · 2013Review
- Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.Cancer science · 2008Article
- Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.Journal of medical genetics · 2006Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We sequenced approximately 23 kb genomic regions containing all the coding exons and their franking introns of two breast cancer susceptibility genes, BRCA1 and BRCA2, of 55 individuals from 50 unrelated Japanese breast cancer families. We identified 55 single-nucleotide polymorphisms (SNPs) (21 in BRCA1 and 34 in BRCA2) containing nine pathogenic protein-truncating mutations (four in BRCA1 and five in BRCA2 from ten patients). Among the remaining 46 SNPs, allele frequencies of 40 were examined in both the breast cancer patients and 28 healthy volunteers with no breast cancer family history by PCR-RFLP or by direct DNA sequencing. Twenty-eight SNPs were common and were also found in the healthy volunteers and/or a SNP database. The remaining 18 were rare (allele frequency <0.05) and were not found in the healthy volunteers and/or the database. The pathogenic significance of these coding SNPs (cSNPs) remains to be clarified. The SNP information from this study will be useful in the future genetic testing of both BRCA1 and BRCA2 genes in the Japanese population.
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