Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

@article{Campos2003HaplotypeAO,
  title={Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain},
  author={Berta Campos and Orland D{\'i}ez and Fabrice Odefrey and Montserrat Dom{\'e}nech and Virginie Moncoutier and Jos{\'e} Ignacio Mart{\'i}nez-Ferrandis and Ana Osorio and Judith Balma{\~n}a and Alicia Barroso and Mar{\'i}a Eugenia Armengod and Javier Ben{\'i}tez and Carmen Alonso and Dominique Stoppa-Lyonnet and David E. Goldgar and Montserrat Baiget},
  journal={Human Mutation},
  year={2003},
  volume={21}
}
A frame‐shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2… 
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)
TLDR
The findings may help design a first step recurrent mutation panel for screening high-risk breast and/or ovarian cancer families from this specific area, which largely differ from other areas of Spain.
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
TLDR
Screening of this rearrangement in other populations will allow evaluation of whether or not it is a population-specific founder mutation and a more accurate estimation of its distribution and age.
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
TLDR
A higher frequency of ovarian cancer associated with mutations localized in the 5′ end of the BRCA1 gene is found, but there was no association between the prevalence of this type of cancer and mutations situated in the ovarian cancer cluster region (OCCR).
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early‐onset breast cancer: Identification of three novel pathogenic mutations
TLDR
It is indicated that among Spanish women with early‐onset breast cancer, an even moderate family history is a good predictor of being a BRCA mutation carrier.
Mutaciones de BRCA1 y BRCA2 en familias estudiadas en el Programa de Consejo Genético en el Cáncer de la Comunidad Valenciana
TLDR
The study reports 5 new pathogenic mutations to the world spectrum of B RCA1 and BRCA2 mutations and other 5 mutations toThe Spanish spectrum.
Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families
TLDR
This is the largest study to date of high-risk Hispanic families in the United States of predominantly Mexican descent and suggests founder effects, with four of six mutations seen almost exclusively in families with Latin American/Caribbean or Spanish ancestry.
BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina
In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in
Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
TLDR
It is observed that prevalence of recurrent mutations vary according to the geographical origin of the studied families, and accounted for a variable number of positive families depending on the series.
Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling
TLDR
It is demonstrated that each population can have different mutations and due to this, Genetic Counselling and selection criteria must be different for each population.
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
TLDR
The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations and suggest a more efficient approach for the individualization of genetic testing.
...
1
2
...

References

SHOWING 1-10 OF 16 REFERENCES
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland
TLDR
Analysis of the cancer phenotypes showed differential ovarian cancer expression in families carrying mutations in the 5′ and 3′ ends of the BRCA1 gene, and earlier age of ovarian cancer onset in families with BRCa1 mutations compared with families withBRCA2 mutations.
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.
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript
TLDR
The results are consistent with the possibility that these families shared a common ancestry with BRCA1 R71G being a founder mutation of Spanish origin.
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation
TLDR
The aim was to analyse in detail the haplotype and founder effects of the BRCA1 mutation 3171ins5 and furthermore attempt to estimate the time of origin of the mutation.
Evidence of a founder BRCA1 mutation in Scotland
TLDR
Genotype analysis performed on key members from 17 families was consistent with a common haplotype, strongly suggesting a single ancestral origin, the first example of a BRCA1 mutation likely to be derived from a common founder in Scotland.
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G
TLDR
Mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease revealed a common haplotype immediately flanking the mutation in all families suggesting that disease alleles are identical by descent.
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
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene
TLDR
Analysis of the mutation distribution along the length of the gene indicates a significant genotype-phenotype correlation and truncating mutations in families with the highest risk of ovarian cancer relative to breast cancer are clustered in a region of approximately 3.3 kb in exon 11.
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.
Identification of the breast cancer susceptibility gene BRCA2
TLDR
The identification of a gene in which six different germline mutations in breast cancer families that are likely to be due to BRCA2 are detected, and results indicate that this is the BRC a2 gene.
...
1
2
...