ArticleBritish journal of cancer2000
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.
Article in British journal of cancer, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 46 citations in OpenAlex.
- The germline mutational landscape of BRCA1 and BRCA2 in Brazil.Scientific reports · 2018Trial
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.Breast cancer research : BCR · 2020Article
- Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.Molecular biology reports · 2013Article
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- Genomic rearrangements in BRCA1 and BRCA2: A literature review.Genetics and molecular biology · 2009Article
- Uptake of clinical genetic testing for ovarian cancer in Ontario: a population-based study.Gynecologic oncology · 2009Article
- Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast-ovarian cancer families from Kerala, South India.Journal of cancer research and clinical oncology · 2007Article
- Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.Human genetics · 2003Article
- Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.American journal of human genetics · 2000Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques. The protein truncation test (PTT) for exons 10 and 11 detected four different frame-shifting mutations in six of these families. Four of the remaining 75 families had given positive linkage evidence for being due to BRCA2. In these families the entire coding region was analysed by single-strand conformational polymorphism, leading to the detection of a non-sense and a splice-site mutation in two of them. While these studies were in progress, Southern analysis of BRCA1 revealed that in our study-population of 81 families, 15 families were segregating either the exon 13 or exon 22 deletion in BRCA1 (Petrij-Bosch et al (1997) Nat Genet 17: 341-345). This prompted us to examine BRCA2 in the remaining 58 families by Southern analysis, using two different restriction enzymes. No aberrations were found in the restriction patterns. Thus, contrary to BRCA1, large genomic rearrangements within the BRCA2 gene do not represent a major mutation mechanism among Dutch breast cancer families.
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