Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia

  title={Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia},
  author={B{\'e}la Cs{\'o}kay and Laima Tihomirova and Aivars Stengrēvics and Olga Siņicka and Edith Ol{\'a}h},
  journal={Human Mutation},
Germ‐line mutations of the BRCA1 gene account for approximately half of the cases of hereditary breast/ovarian cancers. We have screened index patients from 15 breast cancer families and 8 sporadic breast cancer patients from Latvia for mutations in all coding exons of the BRCA1 gene, using combined Heteroduplex Analysis/SSCP followed by direct sequencing of the variants. BRCA1 germ‐line mutations proved to be frequent in Latvian breast cancer patients, also in moderate‐risk families and… 
Ovarian cancer in Latvia is highly attributable to recurrent mutations in the BRCA1 gene
The high frequency of two founder mutations in Latvian ovarian cancer patients allow us to suggest that testing for these mutations should be offered to all women with ovarian cancer diagnosed before the age of 65 years.
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years.
A high proportion of founder BRCA1 mutations in Polish breast cancer families
The findings suggest that a rapid and inexpensive assay directed at identifying the 3 common founder mutations will have a sensitivity of 86% compared to a much more costly and labor‐intensive full‐sequence analysis of both genes.
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
The very high frequency of common mutations observed in these families can only be compared to that reported for Ashkenazi Jewish, Icelandic, and Russian high‐risk families.
Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North‐Eastern Poland
The BRCA1 mutation spectrum seems to be different within subregions of Poland, and 30% of high‐risk families from North‐Eastern Poland may be due to recurrent BRC a1 and unique BRCa2 mutations.
BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect
These data demonstrate geographical clustering and suggest a founder effect for particular BRCA1 mutations, which identification will facilitate carrier detection in French families with breast cancer and breast and/or ovarian cancer.
High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia
It is concluded that breast cancer diagnosed before the age of 48 years and ovarian cancer before 65 years are criteria for DNA testing to be offered to women in Latvia, regardless of cancer history in the family.
High Incidence of 4153delA BRCA1 Gene Mutations in Lithuanian Breast- and Breast-ovarian Cancer Families
Screening cancer patients from 13 families with at least three breast and/or ovarian cancers from Lithuania for 5382insC, C61G and 4153delA BRCA1 gene mutations shows that testing of 4153DelA, 5382 insC,C61G BRCa1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers.
BRCA1 mutation analysis in breast/ovarian cancer families from Greece
The results show that BRCA1 deleterious mutations are present in a fraction (20%) of Greek breast/ovarian cancer families similar to other European countries.


Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.
The relatively low frequency of BRCA1 andBRCA2 mutations in the present study could be explained by insufficient screening sensitivity to the location of mutations in uncharacterized regulatory regions, the analysis of phenocopies, or, most likely, within predisposed families, additional un characterized BRCa genes.
Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland
It is shown that more population-oriented research is needed, involving women with less profound or even no family history of breast and ovarian cancer, to better understand the role and significance of different BRCA1 variants and mutations.
BRCA1 mutations in a population-based sample of young women with breast cancer.
These results represent a minimal estimate of the frequency of BRCA1 mutations in this population of young women with breast cancer and show the risk of harboring a mutation was not limited to women with family histories of breast or ovarian cancer.
Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test.
The most common mutations in the familial breast and ovarian cancer susceptibility gene BRCA1 are frameshift and nonsense mutations, which lead to the synthesis of truncated proteins. On this ground,
An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.
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.
German family study on hereditary breast and/or ovarian cancer: Germline mutation analysis of the BRCA1 gene
In this first systematic study of familial breast and/or ovarian cancer in Germany, 29 families for germline mutations in the BRCA1 gene were investigated, identifying mutations in three breast cancer families and in four breast‐ovarian cancer families.
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.
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.
BRCA1‐related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics
Twenty‐eight percent of all BRCA1 breast cancer cases had negative axillary lymph nodes and this group showed a significant prevalence of a negative estrogen and progesterone receptor status and stage I tumors compared with an age‐related, node‐negative control group.
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
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
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.