The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

@article{Struewing1995TheCF,
  title={The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals},
  author={Jeffery P. Struewing and Dvorah Abeliovich and Tamar Peretz and Naaman Avishai and Michael M. Kaback and Francis S. Collins and Lawrence C. Brody},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={198-200}
}
Since BRCA1, the first major gene responsible for inherited breast cancer, was cloned1, more than 50 unique mutations have been detected in the germline of individuals with breast and ovarian cancer1‐10. In high-risk pedigrees, female carriers of BRCA1 mutations have an 80–90% lifetime risk of breast cancer11, and a 40–50% risk of ovarian cancer12. However, the mutation status of individuals unselected for breast or ovarian cancer has not been determined, and it is not known whether mutations… 
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
TLDR
This expanded population-based study confirms that the BRCA1 185delAG mutation and theBRCA2 6174delT mutation constitute the two most frequent mutation alleles predisposing to hereditary breast cancer among the Ashkenazim, and suggests a relatively lower penetrance for the 6174DelT mutation in BRCa2.
A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals.
TLDR
Evaluated constitutional DNA isolated from 83 individuals diagnosed with breast cancer and 93 diagnosed with ovarian cancer at any age provided evidence for the presence of a specific BRCA2 mutation which has its origins in both Jewish Ashkenazi and non-Jewish populations.
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer
TLDR
The results of this report suggest that a recurrent mutation of BRCA1 and a recurrent mutations ofBRCA2 together may account for over a quarter of all early-onset breast cancer cases and two thirds of early-ONSet breastcancer in the setting of a personal or family history of ovarian cancer in Ashkenazi Jewish women.
An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.
TLDR
Genetic screening of the recurrent mutations in Ashkenazi Jewish families will lead to the availability of predictive testing in a reasonably large proportion, even if the family history of breast/ovarian cancer is not particularly strong.
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%
TLDR
Analysis of 107 Ashkenazi Jewish women with breast cancer and a family history of breast or ovarian cancer confirmed a four-fold greater prevalence for the BRCA1 185delAG mutation compared to theBRCA2 6174delT mutation, suggesting a difference in cumulative lifetime penetrance for the two mutations.
Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families
TLDR
A series ofAshkenazi Jewish kindreds at hereditary risk for breast and ovarian cancer who do not segregate one of the three Ashkenazi founder mutations and who have undergone full sequencing of the coding regions and flanking intronic regions of BRCA1 and BRCa2 are presented.
Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients.
TLDR
Presymptomatic screening and counseling for these common mutations in Ashkenazi Jewish women not selected for family history of breast cancer should be reconsidered until the risk associated with these mutations is firmly established, since early diagnostic and preventive-treatment modalities are limited.
High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history.
TLDR
The data suggest that genetic testing is merited in all Ashkenazi women with ovarian cancer, regardless of family history, and that BRCA1 and 6174delT mutations are common in this ethnic group.
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer.
TLDR
Only one nonfounder mutation was identified (in this instance, in a woman of mixed ancestry), and the three founding mutations accounted for most of the observed excess risk of ovarian and breast cancer in relatives.
Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer
TLDR
The observations do not support an important role for AJ founder BRCA1/2 mutations in prostate cancer risk, and the contribution of rare mutations with such low odds ratios to the population prostate cancer burden is unlikely to be large enough to be clinically useful.
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References

SHOWING 1-10 OF 29 REFERENCES
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.
TLDR
The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations.
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families
Women who carry mutations in the BRCA1 gene on chromosome 17q have an 85% lifetime risk of breast cancer, and a 60% risk of ovarian cancer. We have identified BRCA1 mutations in 12 of 30 (40%)
Mutation analysis of the BRCA1 gene in ovarian cancers.
TLDR
The hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s), is supported.
Germline mutation of BRCA1 in Japanese breast cancer families.
TLDR
The proportion of families who inherit the mutated BRCA1 allele seems to be small among Japanese breast cancer families and Japanese breast-ovarian cancer families.
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer.
TLDR
This work has identified several families that show linkage between breast and/or ovarian cancer and genetic markers that flank BRCA1 and developed a protocol to address the many issues that arise in the delivery of these services.
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
TLDR
The heterogeneity of mutations, coupled with the large size of the gene, indicates that clinical application of BRCA1 mutation testing will be technically challenging.
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in
BRCA1 mutations in primary breast and ovarian carcinomas.
TLDR
Results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.
...
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2
3
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