ArticleAmerican journal of human genetics1997
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
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 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 170 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- The TESTBREAST journey: Revisiting the importance of early detection by frequent screening of women at high risk of breast cancer.International journal of cancer · 2025Article
- Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.Oncotarget · 2019Article
- Non-Journal of global oncology · 2019Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- Establishing a program for individuals at high risk for breast cancer.Journal of Cancer · 2013Article
- Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.Cancer genetics · 2012Article
- Pathology of hereditary breast cancer.Cellular oncology (Dordrecht, Netherlands) · 2011Review
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
- Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection.Journal of experimental & clinical cancer research : CR · 2010Article
- Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.The Journal of molecular diagnostics : JMD · 2008Review
- BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.Breast cancer research and treatment · 2007Article
- Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.BMC medical genetics · 2007Article
- Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.American journal of public health · 2006Article
- The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations.BMC medical genetics · 2006Article
- BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.Familial cancer · 2006Article
- Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.Human genetics · 2005Article
- 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
- Highly penetrant hereditary cancer syndromes.Oncogene · 2004Review
- BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.British journal of cancer · 2004Article
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Authors and funding
25 authors at 1 institution in 1 country.
Funding
Abstract
We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of them not previously reported and 12 of them occurring more than once. Most conspicuously, a 2804delAA mutation has been found 19 times and has never been reported outside the Netherlands. A common haplotype spanning > or = 375 kb could be identified for each of the nine examined recurrent mutations, indicating the presence of multiple BRCA1 founder mutations in the Dutch population. The 2804delAA mutation has been estimated to have originated approximately 32 generations ago. No specific breast or ovarian cancer phenotype could be assigned to any of the common mutations, and the ovarian cancer incidence among 18 families with the 2804delAA mutation was heterogeneous.
Indexed as
Identifiers
9150151PMC1712432W1815160145What 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.