Rapid detection of novel BRCA1 rearrangements in high‐risk breast‐ovarian cancer families using multiplex PCR of short fluorescent fragments

@article{Casilli2002RapidDO,
  title={Rapid detection of novel BRCA1 rearrangements in high‐risk breast‐ovarian cancer families using multiplex PCR of short fluorescent fragments},
  author={Federica Casilli and Zorika Christiana di Rocco and Sophie Gad and Isabelle Tournier and Dominique Stoppa-Lyonnet and Thierry Frebourg and Mario Tosi},
  journal={Human Mutation},
  year={2002},
  volume={20}
}
Recent studies have revealed a significant proportion of BRCA1 exon deletions or duplications in breast‐ovarian cancer families with high probability of BRCA1‐ or BRCA2‐linked predisposition, in which mutations of these genes have not been found. The difficulty of detecting such heterozygous rearrangements has stimulated the development of several new screening methods. Quantitative fluorescent multiplex PCR is based on simultaneous amplification of multiple target sequences under conditions… 
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR method
TLDR
The results indicate that the semi‐quantitative multiplex PCR method is useful for the detection of large rearrangements in the BRCA1 gene and therefore represents an additional valuable tool for mutation analysis of BRC a1 and BRCa2.
Real‐time PCR‐based gene dosage assay for detecting BRCA1 rearrangements in breast–ovarian cancer families
TLDR
This simple, rapid, and semiautomated real‐time quantitative polymerase chain reaction (PCR) assay is a promising alternative technique to Southern blot, bar code analysis on combed DNA, quantitative multiplex PCR of short fluorescent fragments, and cDNA length analysis for the detection of large rearrangements.
Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing.
TLDR
The results suggest the usefulness of screening for LGRs in BRCA genes in the Tunisian population and suggest that MLPA should be used in genetic testing programs.
Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.
TLDR
Evidence is provided that gross rearrangements within the BRCA1 gene locus may be as frequent as 3% in primarily mutation-negative tested high-risk familial breast and ovarian cancer of German ancestry, while large alterations involving the B RCA2 locus do not appear to play a significant role in disease etiology.
Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.
  • P. Machado, R. Brandão, +6 authors F. Vaz
  • Biology, Medicine
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2007
PURPOSE BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic
Significant Contribution of Germline BRCA2 Rearrangements in Male Breast Cancer Families
TLDR
The complete BRCA2 deletion is mapped and it is shown that it does not affect APRIN/AS3, previously characterized as a tumor suppressor gene, but it comprises several loci corresponding to proven or putative transcripts of unknown functional significance.
Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation
TLDR
It is revealed that LGRs comprise ~3% of identified BRCA1 mutations, a low rate in comparison to other populations, and some of the previously misunderstood rules of nomenclature are clarified, which will make uniform reporting of BRCa1/2 easier in the future.
Large BRCA1 gene deletions are found in 3% of German high‐risk breast cancer families
TLDR
The data indicate that the exon 17 deletion may be a founder mutation in the German population, and Genomic quantification by MLPA is a useful method for molecular diagnostics in high‐risk breast cancer families.
Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion
TLDR
This work identified a novel BRCA1 genomic rearrangement in a breast/ovarian cancer family negative at the first mutation screening, and detected a deletion encompassing exons 14–19, probably due to replication slippage between Alu sequences.
Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families
TLDR
The results support the idea that search for BRCA1 rearrangements should be included in the genetic screening of even moderate risk breast/ovarian cancer families, and suggest BRCa2 rearrangement might be very rare out of the high risk families including a male breast cancer.
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References

SHOWING 1-10 OF 26 REFERENCES
Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.
TLDR
The prior probability of detecting a BRCA1 mutation may be a useful predictor when considering the use of Southern blot analysis for families with breast/ovarian cancer who do not have detectable coding-region mutations.
Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single‐strand conformation and heteroduplex analysis
  • D. Barker
  • Biology, Medicine
    Human mutation
  • 2000
TLDR
The approach for robust multiplex amplification is generally applicable and allows rapid development of efficient testing for a wide variety of mutations in any gene(s) encompassing a large coding region or numerous exons and including as many as 50 different genomic PCR products.
Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer
TLDR
A Long PCR strategy for screening the entire genomic BRCA1 locus in high‐risk families in which no genomic mutations had been detected using conventional methods revealed a complex mutation, g.12977 ins10 del1039, which was not detected among 11 other breast cancer families, nor among 406 breast cancer patients unselected for family history.
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
TLDR
BRCA1 large rearrangements accounted for 3.3% (4/120) of breast-ovarian cancer cases and 9.5% of the BRCA 1 gene mutation spectrum, suggesting that their screening is an important step that should be now systematically included in genetic testing surveys.
Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families
TLDR
This work studied 60 affected probands belonging to families with a strong history of breast and/or ovarian cancer who scored negative for BRCA1 gene mutations by PTT and SSCP analysis and identified a 3 kb deletion encompassing exon 17 and causing a frameshift mutation.
Color bar coding the BRCA1 gene on combed DNA: A useful strategy for detecting large gene rearrangements
TLDR
This work has developed an alternative strategy allowing a panoramic view of the BRCA1 gene, based on dynamic molecular combing and the design of a full four‐color bar code of the F1 region, which allows the direct observation of complex and likely underreported rearrangements, such as inversions and insertions.
Identification of a large rearrangement of theBRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing
TLDR
The identification, using colour bar coding on combed DNA, of a previously undescribed large rearrangement of the BRCA1 gene in an American breast/ovarian cancer family with ancestors from France and Germany is reported.
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
TLDR
It is reported that the currently available mutation spectrum of BRCA1 has been biased by PCR-based mutation-screening methods, such as SSCP, the protein truncation test (PTT) and direct sequencing, using genomic DMA as template.
Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons.
  • E. Ricevuto, H. Sobol, +6 authors M. Tosi
  • Biology, Medicine
    Clinical cancer research : an official journal of the American Association for Cancer Research
  • 2001
TLDR
Scanning by FAMA appears to be free of biases for particular types of sequence changes-except for exon deletions/duplications, which cannot be detected by conventional PCR-based methods-and allows substantial savings in the number of sequencing reactions and in the time invested in their interpretation.
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family.
TLDR
Evaluation of a polymorphism located within intron 2 of BRCA1 gave results consistent with the presence of a large deletion in K2035 mutation carriers, and Sequencing indicated that unequal crossover between Alu repeats was the likely cause of the deletion.
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