High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
Author Information
Author(s): Vasickova Petra, Machackova Eva, Lukesova Miroslava, Damborsky Jiri, Horky Ondrej, Pavlu Hana, Kuklova Jitka, Kosinova Veronika, Navratilova Marie, Foretova Lenka
Primary Institution: Masaryk Memorial Cancer Institute, Brno, Czech Republic
Hypothesis
The study aims to determine the type and frequency of large genomic rearrangements in the BRCA1 gene in hereditary breast and ovarian cancer cases in the Czech Republic.
Conclusion
Using MLPA, mutations were detected in 6% of high-risk patients previously designated as BRCA1/2 mutation-negative.
Supporting Evidence
- Six different large deletions in the BRCA1 gene were identified in 10 out of 172 unrelated high-risk patients.
- The breakpoints of five out of six large deletions detected in Czech patients are novel.
- Using MLPA technique, intragenic rearrangements were detected in approximately 6% of the Czech high-risk families previously designated as BRCA1/2 mutation negative.
Takeaway
The study found that some people with a family history of breast and ovarian cancer have large changes in their BRCA1 gene that regular tests might miss.
Methodology
Multiplex ligation-dependent probe amplification (MLPA) was used to examine BRCA1 rearrangements in 172 unrelated patients.
Limitations
The study could not determine whether detected deletions segregate with disease in affected families due to lack of informative data.
Participant Demographics
The test group comprised 172 high-risk Czech families with hereditary breast and/or ovarian cancer syndrome.
Digital Object Identifier (DOI)
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