BRCA1 and BRCA2 mutation analysis in breast‐ovarian cancer families from northeastern Poland

@article{Perkowska2003BRCA1AB,
  title={BRCA1 and BRCA2 mutation analysis in breast‐ovarian cancer families from northeastern Poland},
  author={Magdalena Perkowska and Izabela Brożek and Barbara Wysocka and Karin Haraldsson and Therese Sandberg and Ulla Johansson and Gunilla Sellberg and {\AA}ke Borg and Janusz Limon},
  journal={Human Mutation},
  year={2003},
  volume={21}
}
Sixty high‐risk breast and/or ovarian cancer families from North‐Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high‐performance liquid chromatography and direct sequencing. Sixteen (27%) of the families were found to carry nine different BRCA mutations, including 14 families with BRCA1 mutation and two families with BRCA2 mutation. The results suggest the presence of two strong BRCA1… 
BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.
TLDR
The Polish population has a diverse mutation spectrum influenced by strong founder effects, however, families with strong breast/ovarian cancer history who are negative for these common mutations should be offered a complete BRCA gene screening, including MLPA analysis.
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TLDR
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TLDR
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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.
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
  • 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
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TLDR
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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.
BRCA1 gene mutations in Chinese families with breast cancer
TLDR
These mutation sites may be related to breast cancer, but more investigation is needed to determine whether the mutation sites are hot spots of mutations in Chinese familial breast cancer patients.
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TLDR
It is observed that the best clinical criterion for the initiation of BRCA1 analysis is the presence of breast cancer at 40 years of age in the association with the presenceof ovarian cancer diagnosed around the age of 50, and the bestclinical criterion for starting with BRCa2 analysis isthe presence of Breast cancer diagnosed in older age (above 50), or the presence in conjunction with carcinomas at different sites e.g., prostate, colorectum, ovary and uterus.
BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study
TLDR
In Poland, testing for constitutional mutations in BRCA1/2 should be carried out in two stages, where NGS is performed in qualifying subjects if founder mutations are not identified.
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References

SHOWING 1-10 OF 14 REFERENCES
Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North‐Eastern Poland
TLDR
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‐related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics
TLDR
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.
High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer
TLDR
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.
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.
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
TLDR
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.
BRCA2 germline mutations in male breast cancer patients in the Polish population
TLDR
The results of this study suggest that germ‐line BRCA2 mutations account for rather small proportion of male breast cancer in Poland.
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.
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.
Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland
TLDR
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.
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
TLDR
The results suggest that one in a hundred women of Ashkenazi descent may be at especially high risk of developing breast and/or ovarian cancer.
...
1
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