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Expert Review of Molecular Diagnostics Volume 16, 2016 - Issue 7
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Letter to the Editor

Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype

Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101–5

Angelo MinucciLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
,
Maria De BonisLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
,
Alessandra CostellaLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy
,
Giovanni ScambiaDepartment of Obstetrics and Gynecology, Catholic University, Rome, Italy;Foundation Giovanni Paolo II and Molipharma s.r.l., Campobasso, Italy
,
Giuseppa ScandurraDivision of Gynecological and Medical Oncology, Department of Maternal and Child, Cannizzaro Hospital, Catania, Italy
&
Ettore CapoluongoLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy;Foundation Giovanni Paolo II and Molipharma s.r.l., Campobasso, ItalyCorrespondence[email protected]
Pages 715-717 | Published online: 17 May 2016

References

  • Cipollini G, Tommasi S, Paradiso A, et al. Genetic alterations in hereditary breast cancer. Ann Oncol. 2004;15(Suppl 1):I7–13.
  • Concolino P, Mello E, Minucci A, et al. Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection. Clin Chem Lab Med. 2014;52:1119–1127.
  • Eccles BK, Copson E, Maishman T, et al. Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer. 2015 25;15:936.
  • Vail PJ, Morris B, Van Kan A, et al. Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. J Community Genet. 2015;6:351–359.
  • Nagy P, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn. 2015;15:1101–1105.
  • Cini G, Mezzavilla M, Della Puppa L, et al. Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. BMC Med Genet. 2016;17:11.
  • Pensabene M, Spagnoletti I, Capuano I, et al. Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling. Ann Oncol. 2009;20:874–878.
  • Díez O, Gutiérrez-Enríquez S. BRCA2 splice site mutations in an Italian breast/ovarian cancer family. Ann Oncol. 2009;20:1285.
  • Colombo M, Ripamonti CB, Pensotti V, et al. An unusual BRCA2 allele carrying two splice site mutations. Ann Oncol. 2009;20:1143–1144.
  • Minucci A, Scambia G, Santonocito C, et al. Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review. Expert Rev Mol Diagn. 2015;15:1383–03.
  • Giacomo D, Gaildrat P, Abuli A, et al. Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements. Hum Mutat. 2013;34:1547–1557.

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