Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.

@article{Grski2000FounderMI,
  title={Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.},
  author={Bohdan G{\'o}rski and Tomasz Byrski and Tomasz Huzarski and Anna Jakubowska and Janusz Menkiszak and Jacek Gronwald and Anna Płużańska and Marek Bębenek and L Fischer-Maliszewska and Ewa Grzybowska and S A Narod and Jan Lubiński},
  journal={American journal of human genetics},
  year={2000},
  volume={66 6},
  pages={
          1963-8
        }
}
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. 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 total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only… 
A high proportion of founder BRCA1 mutations in Polish breast cancer families
TLDR
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 proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area
TLDR
Mutational analysis of BRCA1/2 genes in 151 high-risk patients characterized the spectrum of gene alterations and demonstrated the dominant role of the BRCa1 c.5266dupC allele in hereditary breast and ovarian cancer.
Mutations of the BRCA1 Gene in Hereditary Breast and Ovarian Cancer in the Czech Republic
TLDR
The frequency and spectrum of BRCA1 mutations in Czech breast or ovarian cancer families is established and PTT analysis enables examination of long PCR products, useful for rapid detection of mutations in hereditary breast cancer.
Ovarian cancer in Latvia is highly attributable to recurrent mutations in the BRCA1 gene
TLDR
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.
BRCA1 testing
TLDR
The “Polish model” of solving the problem of BRCA1/BRCA2 testing can be valuable for many populations with a relatively high level of genetic homogeneity.
BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia
TLDR
The overall frequency of clinically important BRCA1 mutations in early-onset patients, familial cases, and predictive testing was 7.6% (144 cases, 11 mutation carriers).
BRCA1 and BRCA2 Mutations are they Related to Breast Cancer in a Sample of Tunisian Population
TLDR
This work screened for germline mutations in seventeen Tunisian high-risk breast cancer patients using direct sequencing, and one recurrent mutation in BRCA 1 was identified, which appear to represent founder mutation in this population.
Founder mutations of BRCA1 and BRCA2 in North American families of Polish origin that are affected with breast cancer.
TLDR
The results support the claim that the majority of mutation-carrying families with Polish ancestry carry the BRCA1 5382insC mutation, in Poland and in North America.
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer
TLDR
The results of this study suggest that, in the Polish population, the constellation of ovarian and stomach cancer predicts the presence of a germ-line BRCA2 mutation and confirms that stomach cancer is part of the spectrum of BRC a2 mutations.
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece
TLDR
The G5331A mutation in BRCA1 appears to be a founder mutation in the Greek population, according to a large sample sizes and by the use of cases selected for their family history of cancer.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 35 REFERENCES
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.
TLDR
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.
Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer
TLDR
The results indicate that families with a low number of cancer patients should be referred for BRCA1 genetic testing mainly when ovarian cancer is present, especially when these were characterized by breast cancers only.
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.
BRCA2 germline mutations in male breast cancer cases and breast cancer families
TLDR
Three of eleven individuals carry the same mutation, all are of Ashkenazi Jewish descent, supporting the observation by Neuhausen et al, in this issue4 that there is a common mutation in this population.
Study of a single BRCA2 mutation with high carrier frequency in a small population.
TLDR
Comparison of the age at onset for mother/daughter pairs with the 999del5 mutation and breast cancer indicates thatAge at onset is decreasing in the younger generation, and increase in breast cancer incidence and lower age at inception suggest a possible contributing environmental factor.
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 BRCA1 and BRCA2 in a male breast cancer population.
TLDR
A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRC a2, finding only one of the twomale breast cancer patients carrying a BRCa2 mutation had a family history of cancer, with one case of ovarian cancer in a first-degree relative.
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation
TLDR
Analysis of families with a history of breast and/or ovarian cancer for germline mutations in BRCA1 suggests a transition in risk such that mutations in the 3′ third of the gene are associated with a lower proportion of ovarian cancer.
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.
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.
TLDR
Mutations in the BRCA1 and BRCa2 genes make approximately equal contributions to early-onset breast cancer in Britain and account for a small proportion of the familial risk of breast cancer.
...
1
2
3
4
...