Founder mutations of BRCA1 and BRCA2 in North American families of Polish origin that are affected with breast cancer.

  title={Founder mutations of BRCA1 and BRCA2 in North American families of Polish origin that are affected with breast cancer.},
  author={Patricia de los Rios and Elaine Jack and Graciela Kuperstein and H T Lynch and Jakub Lubiński and Steven A. Narod},
  journal={American journal of human genetics},
  volume={68 2},
To the Editor: We have recently identified five founder mutations in a panel of 66 families with breast/ovarian cancer who were ascertained in western Poland (Gorski et al. 2000). Of the 35 families with mutations, 33 had one of the five recurrent BRCA1 mutations, including 18 families with the 5382 insC mutation. Only one BRCA2 mutation was found in the 66 families. A significant proportion of North American families claim Polish ancestry. We were interested to see whether the same… 
Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population
  • B. Górski
  • Biology, Medicine
    Hereditary cancer in clinical practice
  • 2006
ObjectivesThis study was undertaken to determine: 1) Type and prevalence of founder mutations BRCA1 and BRCA2 genes in Polish families with strong aggregation of breast and/or ovarian cancer. 2) Risk
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.
BRCA1 and BRCA2 mutation analysis in breast‐ovarian cancer families from northeastern Poland
The results suggest the presence of two strong BRCA1 founder mutations in the Polish population – 5382insC (6 families) and 300T>G (Cys61Gly; 3 families) – and conclude that the Polishpopulation has a more dispersed BRCa mutation spectrum than had been earlier thought.
BRCA1 mutations in Brazilian patients
The identification of these mutations which are associated to hereditary breast and ovarian cancers will contribute to the characterization of the mutational spectrum of BRCA1 and to the improvement of genetic counseling for familial breast/ovarian cancer patients in Brazil.
Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg
Ten variants different from the canonical nucleotide sequence has been identified when studying the mutation spectrum in gene BRCA1 and six of them cause premature termination of protein synthesis, thus predisposing to breast cancer.
The D13S171 marker, misannotated to BRCA2, links the AS3 gene to various cancers.
The authors' search for genes involved in the repression of cell proliferation revealed a marker misannotation in the BRCA2 area and identifies a new proliferation-arrest gene, known as “androgen-shutoff gene 3” (AS3), in this region and implicates it in cancer.
Molecular basis of inherited predispositions for tumors.
It is hypothesized that in the near perspective 5-10 years studies using existing registry data/material and the latest novel technology will allow the identification of the molecular background for the majority of hereditary cancers which will have enormous practical consequences especially for the prevention of malignancies.


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.
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?
The results suggest the existence of at least one more major breast cancer-susceptibility gene, and it would expect 8-10 site-specific female breast cancer families of the series to be due to neither BRCA1 nor BRCa2.
Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.
The VL gene was mapped to chromosome 22qtel, within a 3-cM linkage interval between markers D22S1161 and n66c4 by genome scan of 13 Turkish families and linkage analysis under the genetic-heterogeneity hypothesis showed no genetic heterogeneity.