ArticleBritish journal of cancer2000
Evidence of a founder BRCA1 mutation in Scotland.
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 10 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed.
- Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.European journal of human genetics : EJHG · 2024Article
- Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.European journal of human genetics : EJHG · 2023Article
- Cross-sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment.Journal of genetic counseling · 2022Article
- Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer.Obstetrics & gynecology science · 2020Article
- Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.Cancer discovery · 2013Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
- Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.Human genetics · 2005Article
- Highly penetrant hereditary cancer syndromes.Oncogene · 2004Review
- BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.British journal of cancer · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
BRCA1 mutations have been identified in breast and ovarian cancer families from diverse ethnic backgrounds. We studied 17 different families with the BRCA1 2800delAA mutation; seven were ascertained in Scotland (Dundee, Edinburgh, Glasgow, St Andrews), five in Canada (Toronto, Victoria) and five in the United States (Chicago, Philadelphia, Seattle). Overall there was a clear preponderance of Scottish ancestry. Genotype analysis performed on key members from 17 families was consistent with a common haplotype, strongly suggesting a single ancestral origin. A possible link was established between two families by tracing their genealogies through the records of the Registrar General for Scotland. This is the first example of a BRCA1 mutation likely to be derived from a common founder in Scotland. Further studies will be necessary to estimate more accurately the population frequency of the BRCA1 2800delAA mutation among unselected cases of breast and ovarian cancer in Scotland and the UK.
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What OpenQuestion holds
Registered trials
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.