The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews
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Summary
The Tyr978X BRCA1 mutation, which is a founder mutation in Jews, may be a hot spot in non-Jewish high risk women, and probably does not represent a rare sequence variant in Iranian non-Jews.
- Type
- article
- Published
- 2004-01-01
- Cited by
- 9
- References
- 22
- OpenAlex
- https://openalex.org/W15951957
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:24416194
Keywords
Geography
References
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- Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds.
- The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.
- Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
- Haplotype Analysis of BRCA2 8765delAG Mutation Carriers in French Canadian and Yemenite Jewish Hereditary Breast Cancer Families
- The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
- Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
- Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation.
- The Tyr978X BRCA1 Mutation in Non-Ashkenazi Jews: Occurrence in High-Risk Families, General Population and Unselected Ovarian Cancer Patients
- An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer.
- The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
- The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.
- Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
- Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families
- The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.
- Y-chromosome lineages trace diffusion of people and languages in southwestern Asia.
- Germline BRCA1 mutations in Iranian women with breast cancer.
- Could the 185 deIAG BRCA1 Mutation Be an Ancient Jewish Mutation?
- Population genetics of BRCA1 and BRCA2.
Cited by
- BRCA1 and BRCA2 common mutations in iranian breast cancer patients: a meta analysis.
- BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review
- Ethnic ancestry and increased paternal age are risk factors for breast cancer before the age of 40 years
- Founder mutations in BRCA1 and BRCA2 genes.
- A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer
- Genetic testing in Israel: an overview.
- Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms
- The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families
- BRCA 1 and BRCA 2 Common Mutations in Iranian Breast Cancer Patients : a Meta Analysis
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