BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect

@article{Muller2004BRCA1TI,
  title={BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect},
  author={Dani{\`e}le Muller and Catherine Bonaiti-Peli{\'e} and Joseph Abecassis and Dominique Stoppa-Lyonnet and J P Fricker},
  journal={Familial Cancer},
  year={2004},
  volume={3},
  pages={15-20}
}
Objective: The purpose of this study was to determine whether two mutations detected frequently in a population of breast and/or ovarian cancer families originating from the northeastern part of France could be due to a founder effect. Methods: 83 index cases of families ascertained to have a familial breast and/or ovarian cancer history, were screened for mutations in all coding exons of the BRCA1 gene, using combined DGGE and direct sequencing. For haplotype analysis, six polymorphic markers… 
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References

SHOWING 1-10 OF 42 REFERENCES
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.
Germline BRCA1 mutations in patients from 84 families with breast and/or ovarian cancers in northern France
TLDR
Using systematic sequencing, BRCA1 germline mutations in 84 patients treated at the Centre Oscar Lambret for breast and/or ovarian cancer who belonged to high-risk families were looked at, finding 39 mutations that were not always related to parameters thought to indicate a bad prognosis.
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3′ third of the gene
TLDR
The genotype of the two families with the 5382insC mutation is compatible with the rare haplotype segregating with the 3′ third of the gene (end of exon 11–24) and ovarian cancers were found in eight of these families.
Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia
TLDR
Interestingly, these three recurrent mutations accounted for all mutations in the authors' sample set and no unique mutation was found, which is intriguing for the supposed Baltic origin of this mutation.
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
TLDR
A haplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast/ovarian cancer families selected for having one of six recurrent BRCa1 mutations observed a high degree of haplotype conservation across the region.
BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.
TLDR
An account of familial aggregation in breast/ovarian cancer has become possible with the identification of BRCA1 germ-line mutations and indirect evidence suggests that seven of these mutations are deleterious.
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.
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.
TLDR
The present study confirms the involvement of BRCA1 in disease predisposition for a subset of hereditary breast cancer families often characterized by ovarian cancers.
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
TLDR
BRCA1 large rearrangements accounted for 3.3% (4/120) of breast-ovarian cancer cases and 9.5% of the BRCA 1 gene mutation spectrum, suggesting that their screening is an important step that should be now systematically included in genetic testing surveys.
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
TLDR
The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in bRCA2 carriers <50 years of age.
...
1
2
3
4
5
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