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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.
Minucci A, De Bonis M, Costella A, Scambia G, Scandurra G, Capoluongo E. Minucci A, et al. Among authors: costella a. Expert Rev Mol Diagn. 2016 Jul;16(7):715-7. doi: 10.1080/14737159.2016.1184573. Epub 2016 May 17. Expert Rev Mol Diagn. 2016. PMID: 27125725 No abstract available.
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Minucci A, Scambia G, Santonocito C, Concolino P, Canu G, Mignone F, Saggese I, Guarino D, Costella A, Molinario R, De Bonis M, Ferrandina G, Petrillo M, Scaglione GL, Capoluongo E. Minucci A, et al. Among authors: costella a. Expert Rev Mol Diagn. 2015;15(10):1383-403. doi: 10.1586/14737159.2015.1081059. Epub 2015 Aug 26. Expert Rev Mol Diagn. 2015. PMID: 26306726 Review.
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.
Concolino P, Costella A, Minucci A, Scaglione GL, Santonocito C, Salutari V, Scambia G, Zuppi C, Capoluongo E. Concolino P, et al. Among authors: costella a. Clin Chim Acta. 2014 Nov 1;437:72-7. doi: 10.1016/j.cca.2014.06.026. Epub 2014 Jul 5. Clin Chim Acta. 2014. PMID: 25007954
CYP21A2 genetics: When genotype does not fit phenotype.
Sani I, Rossodivita AN, Mariani M, Costella A, Molinario R, Concolino P, Capoluongo E. Sani I, et al. Among authors: costella a. Clin Biochem. 2016 Apr;49(6):524-525. doi: 10.1016/j.clinbiochem.2015.07.022. Epub 2015 Jul 21. Clin Biochem. 2016. PMID: 26209023 No abstract available.
24 results