ArticleAmerican journal of human genetics1997
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 177 citations in OpenAlex.
- Article
- Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.Scientific reports · 2022Article
- ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.Nucleic acids research · 2018Article
- A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.BMC medical genomics · 2016Article
- Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.BMC medical genetics · 2016Article
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.Nature genetics · 2015Article
- New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.BMC medical genomics · 2015Article
- Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.PloS one · 2015Article
- Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.Familial cancer · 2013Article
- Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).BMC cancer · 2013Article
- Article
- Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.BMC medical genetics · 2011Article
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
- Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.BMC cancer · 2006Article
- High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.Breast cancer research : BCR · 2005Article
- A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.Familial cancer · 2005Article
- Highly penetrant hereditary cancer syndromes.Oncogene · 2004Review
- Brca1 inactivation induces p27(Kip1)-dependent cell cycle arrest and delayed development in the mouse mammary gland.Oncogene · 2004Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previous studies of high-risk breast cancer families have proposed that two major breast cancer-susceptibility genes, BRCA1 and BRCA2, may account for at least two-thirds of all hereditary breast cancer. We have screened index cases from 106 Scandinavian (mainly southern Swedish) breast cancer and breast-ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using the protein-truncation test, SSCP analysis, or direct sequencing. A total of 24 families exhibited 11 different BRCA1 mutations, whereas 11 different BRCA2 mutations were detected in 12 families, of which 3 contained cases of male breast cancer. One BRCA2 mutation, 4486delG, was found in two families of the present study and, in a separate study, also in breast tumors from three unrelated males with unknown family history, suggesting that at least one BRCA2 founder mutation exists in the Scandinavian population. We report 1 novel BRCA1 mutation, eight additional cases of 4 BRCA1 mutations described elsewhere, and 11 novel BRCA2 mutations (9 frameshift deletions and 2 nonsense mutations), of which all are predicted to cause premature truncation of the translated products. The relatively low frequency of BRCA1 and BRCA2 mutations in the present study could be explained by insufficient screening sensitivity to the location of mutations in uncharacterized regulatory regions, the analysis of phenocopies, or, most likely, within predisposed families, additional uncharacterized BRCA genes.
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9150154PMC1712420W1693092338What OpenQuestion holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.