Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families

@article{Peelen2000ScreeningFB,
  title={Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families},
  author={Tamara Peelen and Margreethe van Vliet and Anna Bosch and Graham Bignell and H. F. A. Vasen and Jan G. M. Klijn and Hanne E J Meijers-Heijboer and Michael R. Stratton and G. J. B. Ommen and C. J. Cornelisse and Peter Devilee},
  journal={British Journal of Cancer},
  year={2000},
  volume={82},
  pages={151 - 156}
}
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… 

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  • Biology
    International journal of cancer
  • 2002
TLDR
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References

SHOWING 1-10 OF 35 REFERENCES
A low proportion of BRCA2 mutations in Finnish breast cancer families.
TLDR
A common haplotype covering a minimal region intragenic to the BRCA2 gene was shared between the Icelandic and the Finnish mutation carriers, and suggested a common founder for each recurrent mutation.
Mutation analysis of the BRCA2 gene in 49 site–specific breast cancer families
TLDR
The results suggest the possibilty that the proportion of site-specific breast cancer families attributable to BRCA2 may be overestimated.
Mutation analysis in the BRCA2 gene in primary breast cancers
TLDR
The results indicate that somatic BRCA2 mutations, like somatic mutations in the BRC a1 gene, are very rare in primary breast cancers.
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
TLDR
It is reported that the currently available mutation spectrum of BRCA1 has been biased by PCR-based mutation-screening methods, such as SSCP, the protein truncation test (PTT) and direct sequencing, using genomic DMA as template.
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions.
TLDR
A series of 27 American and 51 French breast cancer families in which no BRCA1 mutation was identified by classical techniques was analyzed, and four families were found to carry distinct deletions, suggesting the search for rearrangements appears mandatory in BRCa1 mutation screening studies.
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.
TLDR
A haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus is constructed, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCa2 mutations.
Rapid detection of BRCA1 mutations by the protein truncation test
TLDR
The protein truncation test (PIT) is used to screen for mutations in exon 11, which encodes 61 % of BRCA1, and detects aberrantly spliced products affecting exons 5 and 6 in one of two BRCa1–linked families examined.
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.
TLDR
Carriers of the same mutation, from different families, shared similar haplotypes, indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population, which will facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families.
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
TLDR
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.
The Majority of 22 Dutch High-Risk Breast Cancer Families Are due to Either BRCA1 or BRCA2
TLDR
It is suggested that BRCA2 will explain a significant proportion of hereditary breast cancer in the Netherlands, and, together with BRC a1, account for the majority of all high-risk families.
...
1
2
3
4
...